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<!--
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UID=892809
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ConceptID=C4021761
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal pyramidal tract morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892809</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4021761</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormality of the pyramidal tracts; Morphological abnormality of the pyramidal tract; Pyramidal tract disease</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002062">HP:0002062</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Abnormal pyramidal tract morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="matched_ds">Abnormal pyramidal tract morphology</span><ul><li><span class="TLline"><a href="/medgen/893081" ref="tree=MeSH" title="MedGen record for Abnormal corticospinal tract morphology">Abnormal corticospinal tract morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870252" ref="tree=MeSH" title="MedGen record for Corticospinal tract pallor">Corticospinal tract pallor</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_82852"><div><strong>Infantile neuroaxonal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82852</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0270724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82852">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83353"><div><strong>Dihydropyrimidinase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83353</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342803</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dihydropyrimidinase deficiency (DPYSD) is an autosomal recessive disease characterized by the presence of dihydropyrimidinuria. The clinical phenotype is highly variable, ranging from early infantile onset of severe neurologic involvement, dysmorphic features, and feeding problems to late onset of mild intellectual disability and even asymptomatic individuals. Patients with a complete or partial deficiency have an increased risk of developing severe toxicity after administration of the anticancer drug 5-fluorouracil (5-FU) (summary by Nakajima et al., 2017). See also dihydropyrimidine dehydrogenase deficiency (274270), a similar disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83353">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162912"><div><strong>Aicardi-Goutieres syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162912</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0796126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162912">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371427"><div><strong>Dystonia 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371427</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832855</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glucose transporter type 1 deficiency syndrome (Glut1DS) is a disorder of brain energy metabolism. Glucose, the essential metabolic fuel for the brain, is transported into the brain exclusively by the protein glucose transporter type 1 (Glut1) across the endothelial cells forming the blood-brain barrier (BBB). Glut1DS results from the inability of Glut1 to transfer sufficient glucose across the BBB to meet the glucose demands of the brain. The needs of the brain for glucose increase rapidly after birth, peaking in early childhood, remaining high until about age 10 years, then gradually decreasing throughout adolescence and plateauing in early adulthood. When first diagnosed in infancy to early childhood, the predominant clinical findings of Glut1DS are paroxysmal eye-head movements, pharmacoresistant seizures of varying types, deceleration of head growth, and developmental delay. Subsequently children develop complex movement disorders and intellectual disability ranging from mild to severe. Institution of ketogenic diet therapies (KDTs) helps with early neurologic growth and development and seizure control. Typically, the earlier the treatment the better the long-term clinical outcome. When first diagnosed in later childhood to adulthood (occasionally in a parent following the diagnosis of an affected child), the predominant clinical findings of Glut1DS are usually complex paroxysmal movement disorders, spasticity, ataxia, dystonia, speech difficulty, and intellectual disability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371427">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_332457"><div><strong>Spinocerebellar ataxia type 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332457</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability. Over the disease course other findings can include eye movement abnormalities (nystagmus, abnormal pursuit and abnormal saccades, and, rarely, ophthalmoplegia); upper motor neuron involvement; extrapyramidal signs; brain stem signs (dysphagia and poor cough reflex); sensory neuropathy; and cognitive impairment (e.g., executive dysfunction, psychomotor slowing and other features of cerebellar cognitive-affective disorder in some). Life span is typically not shortened.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332457">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_325237"><div><strong>Amyotrophic lateral sclerosis type 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325237</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837728</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the VAPB gene on chromosome 20q13.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/325237">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_375289"><div><strong>Biotin-responsive basal ganglia disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375289</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in early infancy, childhood, or adulthood. Early-infantile BTBGD presents before age three months with vomiting, feeding difficulties, encephalopathy, hypotonia, seizures, and respiratory failure. Classic BTBGD presents between ages three and ten years with recurrent subacute encephalopathy manifesting as confusion, seizures, ataxia, supranuclear facial palsy, external ophthalmoplegia, and/or dysphagia that, if left untreated, can eventually lead to coma and even death. Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common. Hemiparesis or quadriparesis may be seen. Episodes are often triggered by febrile illness or mild trauma or stress. Simple partial or generalized seizures are easily controlled with anti-seizure medication. Adult Wernicke-like encephalopathy BTBGD, described in three individuals to date, presents after age ten years with acute onset of status epilepticus, ataxia, nystagmus, diplopia, and ophthalmoplegia. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in classic and adult BTBGD; however, most infants with early-infantile BTBGD have a poor outcome.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/375289">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342410"><div><strong>Progressive supranuclear palsy-parkinsonism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342410</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342410">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376775"><div><strong>Giant axonal neuropathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376775</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1850386</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">GAN-related neurodegeneration comprises a phenotypic continuum ranging from severe (sometimes called classic giant axonal neuropathy) to milder pure early-onset peripheral motor and sensory neuropathies. The classic giant axonal neuropathy phenotype typically manifests as an infantile-onset neurodegenerative disorder, starting as a severe peripheral motor and sensory neuropathy and evolving into central nervous system impairment (intellectual disability, seizures, cerebellar signs, and pyramidal tract signs). Most affected individuals become wheelchair dependent in the second decade of life and eventually bedridden with severe polyneuropathy, ataxia, and dementia. Death usually occurs in the third decade. At the milder end of the spectrum are predominantly motor and sensory neuropathies (with little to no CNS involvement) that overlap with the axonal form of Charcot-Marie-Tooth neuropathies.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376775">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_344297"><div><strong>Spinocerebellar ataxia type 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344297</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spinocerebellar ataxia type 13 (SCA13) is a phenotypic spectrum that includes both non-progressive infantile-onset ataxia and progressive childhood-onset and adult-onset cerebellar ataxia. Three phenotypes are seen: Cerebellar hypoplasia with non-progressive infantile-onset limb, truncal, and gait ataxia with mild-to-moderate intellectual disability and occasionally seizures and/or psychiatric manifestations. Cognition and motor skills improve over time. Childhood-onset slowly progressive cerebellar atrophy with slowly progressive cerebellar ataxia and dysarthria, delayed motor milestones, and mild-to-moderate intellectual disability. Adult-onset progressive cerebellar atrophy with progressive ataxia and spasticity.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/344297">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_341029"><div><strong>L-2-hydroxyglutaric aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341029</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855995</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).\n\nThe main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I.\n\nL-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood.\n\nCombined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/341029">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_347622"><div><strong>Huntington disease-like 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347622</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1858114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare Huntington disease-like syndrome with characteristics of childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/347622">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_356134"><div><strong>Friedreich ataxia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356134</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Typical Friedreich ataxia (FRDA) is characterized by progressive ataxia with onset from early childhood to early adulthood with mean age at onset from 10 to 15 years (range: age two years to the eighth decade). Ataxia, manifesting initially as poor balance when walking, is typically followed by upper-limb ataxia, dysarthria, dysphagia, peripheral motor and sensory neuropathy, spasticity, autonomic disturbance, and often abnormal eye movements and optic atrophy. Hypertrophic cardiomyopathy is present in about two thirds of individuals; occasionally it is diagnosed prior to the onset of ataxia. Diabetes mellitus and impaired glucose tolerance can also occur. Among individuals with FRDA, about 75% have "typical Friedreich ataxia" and about 25% of individuals with biallelic FXN full-penetrance GAA repeat expansions have "atypical Friedreich ataxia" that includes late-onset FRDA (LOFA) (i.e., onset after age 25 years), very late-onset FRDA (VLOFA) (i.e., onset after age 40 years), and FRDA with retained reflexes (FARR).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/356134">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_369786"><div><strong>Spinocerebellar ataxia type 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369786</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1963674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spinocerebellar ataxia type 10 (SCA10) is characterized by slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait, followed by upper-limb ataxia, scanning dysarthria, and dysphagia. Abnormal tracking eye movements are common. Recurrent seizures after the onset of gait ataxia have been reported with variable frequencies among different families. Some individuals have cognitive dysfunction, behavioral disturbances, mood disorders, mild pyramidal signs, and peripheral neuropathy. Age of onset ranges from 12 to 48 years.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/369786">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_436979"><div><strong>Dystonia 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436979</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2677567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.\n\nThe signs and symptoms of dystonia 16 vary among people with the condition. In many affected individuals, the disorder first affects muscles in one or both arms or legs. Tensing (contraction) of the muscles often sets the affected limb in an abnormal position, which may be painful and can lead to difficulty performing tasks, such as walking. In others, muscles in the neck are affected first, causing the head to be pulled backward and positioned with the chin in the air (retrocollis).\n\nIn dystonia 16, muscles of the jaw, lips, and tongue are also commonly affected (oromandibular dystonia), causing difficulty opening and closing the mouth and problems with swallowing and speech. Speech can also be affected by involuntary tensing of the muscles that control the vocal cords (laryngeal dystonia), resulting in a quiet, breathy voice or an inability to speak clearly. Dystonia 16 gradually gets worse, eventually involving muscles in most parts of the body.\n\nSome people with dystonia 16 develop a pattern of movement abnormalities known as parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). In dystonia 16, parkinsonism is relatively mild if it develops at all.\n\nThe signs and symptoms of dystonia 16 usually do not get better when treated with drugs that are typically used for movement disorders.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/436979">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1636142"><div><strong>Cerebroretinal microangiopathy with calcifications and cysts 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1636142</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4552029</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1636142">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1814585"><div><strong>Classic dopamine transporter deficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814585</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5700336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">SLC6A3-related dopamine transporter deficiency syndrome (DTDS) is a complex movement disorder with a continuum that ranges from classic early-onset DTDS (by age 6 months) to atypical later-onset DTDS (in childhood, adolescence, or adulthood). Classic early-onset DTDS: Infants typically manifest nonspecific findings (irritability, feeding difficulties, axial hypotonia, and/or delayed motor development) followed by a hyperkinetic movement disorder (with features of chorea, dystonia, ballismus, orolingual dyskinesia). Over time, affected individuals develop parkinsonism-dystonia characterized by bradykinesia (progressing to akinesia), dystonic posturing, distal tremor, rigidity, and reduced facial expression. Limitation of voluntary movements leads to severe motor delay. Episodic status dystonicus, exacerbations of dystonia, and secondary orthopedic, gastrointestinal, and respiratory complications are common. Many affected individuals appear to show relative preservation of intellect with good cognitive development. Atypical later-onset DTDS: Normal psychomotor development in infancy and early childhood. Attention-deficit/hyperactivity disorder (ADHD) is reported in childhood followed by later-onset manifestations of parkinsonism-dystonia with tremor, progressive bradykinesia, variable tone, and dystonic posturing. The long-term prognosis of this form of DTDS is currently unknown.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1814585">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis type 8</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biotin-responsive basal ganglia disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1636142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebroretinal microangiopathy with calcifications and cysts 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1814585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Classic dopamine transporter deficiency syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83353" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dihydropyrimidinase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 16</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371427" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 9</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356134" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Friedreich ataxia 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Giant axonal neuropathy 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347622" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Huntington disease-like 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82852" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile neuroaxonal dystrophy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">L-2-hydroxyglutaric aciduria</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342410" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive supranuclear palsy-parkinsonism syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_369786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 10</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 13</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332457" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 8</a></div></span></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28641772">Susac Syndrome: A differential diagnosis of white matter lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marrodan M,
|
||
Correale J,
|
||
Alessandro L,
|
||
Amaya M,
|
||
Fracaro ME,
|
||
Köhler AA,
|
||
Fiol M</span><br />
|
||
<span class="medgenPMjournal">Mult Scler Relat Disord</span>
|
||
2017 Jul;15:42-46.
|
||
Epub 2017 May 3
|
||
doi: 10.1016/j.msard.2017.04.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28641772" target="_blank">28641772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26000805">Difference of injury of the corticospinal tract according to surgical or conservative treatment in patients with putaminal hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee AY,
|
||
Choi BY,
|
||
Kim SH,
|
||
Chang CH,
|
||
Jung YJ,
|
||
Jang SH</span><br />
|
||
<span class="medgenPMjournal">Int J Neurosci</span>
|
||
2016;126(5):429-35.
|
||
Epub 2015 Jul 28
|
||
doi: 10.3109/00207454.2015.1026966.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26000805" target="_blank">26000805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23820807">Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adle-Biassette H,
|
||
Saugier-Veber P,
|
||
Fallet-Bianco C,
|
||
Delezoide AL,
|
||
Razavi F,
|
||
Drouot N,
|
||
Bazin A,
|
||
Beaufrère AM,
|
||
Bessières B,
|
||
Blesson S,
|
||
Bucourt M,
|
||
Carles D,
|
||
Devisme L,
|
||
Dijoud F,
|
||
Fabre B,
|
||
Fernandez C,
|
||
Gaillard D,
|
||
Gonzales M,
|
||
Jossic F,
|
||
Joubert M,
|
||
Laurent N,
|
||
Leroy B,
|
||
Loeuillet L,
|
||
Loget P,
|
||
Marcorelles P,
|
||
Martinovic J,
|
||
Perez MJ,
|
||
Satge D,
|
||
Sinico M,
|
||
Tosi M,
|
||
Benichou J,
|
||
Gressens P,
|
||
Frebourg T,
|
||
Laquerrière A</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2013 Sep;126(3):427-42.
|
||
Epub 2013 Jul 3
|
||
doi: 10.1007/s00401-013-1146-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23820807" target="_blank">23820807</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20pyramidal%20tract%20morphology)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (8)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38139357">Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chojdak-Łukasiewicz J,
|
||
Sulima K,
|
||
Zimny A,
|
||
Waliszewska-Prosół M,
|
||
Budrewicz S</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Dec 15;24(24)
|
||
doi: 10.3390/ijms242417530.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38139357" target="_blank">38139357</a><a href="/pmc/articles/PMC10743703" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37788157">Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinello C,
|
||
Panza E,
|
||
Orlacchio A</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Proteomics</span>
|
||
2023 Jul-Dec;20(7-9):171-188.
|
||
Epub 2023 Oct 16
|
||
doi: 10.1080/14789450.2023.2260952.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37788157" target="_blank">37788157</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37578488">White matter abnormalities in 15 subjects with SPG76.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alkhalifa A,
|
||
Chen S,
|
||
Hasiloglu ZI,
|
||
Filosto M,
|
||
Cali E,
|
||
Houlden H,
|
||
Sgobbi de Souza P,
|
||
Alavi A,
|
||
Goizet C,
|
||
Stevanin G,
|
||
Taithe F,
|
||
Nicita F,
|
||
Vasco G,
|
||
Tozza S,
|
||
Cocozza S,
|
||
Carboni N,
|
||
Figus A,
|
||
Wu J,
|
||
Basak AN,
|
||
Brais B,
|
||
Rouleau G,
|
||
La Piana R</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Dec;270(12):5784-5792.
|
||
Epub 2023 Aug 14
|
||
doi: 10.1007/s00415-023-11918-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37578488" target="_blank">37578488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26553276">A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang Y,
|
||
Liu W,
|
||
Fang Z,
|
||
Shi J,
|
||
Che F,
|
||
He C,
|
||
Yao L,
|
||
Wang E,
|
||
Wu Y</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2016 Feb;37(2):165-9.
|
||
Epub 2015 Dec 10
|
||
doi: 10.1002/humu.22930.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26553276" target="_blank">26553276</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21827908">Spinocerebellar ataxia type 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin JJ</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2012;103:475-91.
|
||
doi: 10.1016/B978-0-444-51892-7.00030-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21827908" target="_blank">21827908</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20pyramidal%20tract%20morphology%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (191)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38139357">Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chojdak-Łukasiewicz J,
|
||
Sulima K,
|
||
Zimny A,
|
||
Waliszewska-Prosół M,
|
||
Budrewicz S</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Dec 15;24(24)
|
||
doi: 10.3390/ijms242417530.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38139357" target="_blank">38139357</a><a href="/pmc/articles/PMC10743703" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37578488">White matter abnormalities in 15 subjects with SPG76.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alkhalifa A,
|
||
Chen S,
|
||
Hasiloglu ZI,
|
||
Filosto M,
|
||
Cali E,
|
||
Houlden H,
|
||
Sgobbi de Souza P,
|
||
Alavi A,
|
||
Goizet C,
|
||
Stevanin G,
|
||
Taithe F,
|
||
Nicita F,
|
||
Vasco G,
|
||
Tozza S,
|
||
Cocozza S,
|
||
Carboni N,
|
||
Figus A,
|
||
Wu J,
|
||
Basak AN,
|
||
Brais B,
|
||
Rouleau G,
|
||
La Piana R</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Dec;270(12):5784-5792.
|
||
Epub 2023 Aug 14
|
||
doi: 10.1007/s00415-023-11918-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37578488" target="_blank">37578488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27593715">Acquired Spinal Arteriovenous Fistula Presenting as Brown-Séquard Syndrome and Endovascular Treatment Outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Humaira R,
|
||
To CY,
|
||
Moudgil S,
|
||
Fessler R</span><br />
|
||
<span class="medgenPMjournal">World Neurosurg</span>
|
||
2016 Dec;96:613.e1-613.e4.
|
||
Epub 2016 Sep 2
|
||
doi: 10.1016/j.wneu.2016.08.107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27593715" target="_blank">27593715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17636349">Surgical treatment of ventral mesencephalic cavernoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhong J,
|
||
Li ST,
|
||
Xu SQ,
|
||
Wan L</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
2007 Oct;149(10):1057-61.
|
||
Epub 2007 Jul 18
|
||
doi: 10.1007/s00701-007-1245-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17636349" target="_blank">17636349</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8006649">Sensory neuropathy in hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schady W,
|
||
Smith CM</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1994 Jun;57(6):693-8.
|
||
doi: 10.1136/jnnp.57.6.693.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8006649" target="_blank">8006649</a><a href="/pmc/articles/PMC1072972" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20pyramidal%20tract%20morphology%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (248)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24411408">Hypoglycemia-induced spontaneous unilateral jerking movement in bilateral internal capsule posterior limb abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakajima N,
|
||
Ueda M,
|
||
Nagayama H,
|
||
Katayama Y</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2014 Mar 15;338(1-2):220-2.
|
||
Epub 2014 Jan 2
|
||
doi: 10.1016/j.jns.2013.12.041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24411408" target="_blank">24411408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17389310">Repetitive transcranial magnetic stimulation of the motor cortex ameliorates spasticity in multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Centonze D,
|
||
Koch G,
|
||
Versace V,
|
||
Mori F,
|
||
Rossi S,
|
||
Brusa L,
|
||
Grossi K,
|
||
Torelli F,
|
||
Prosperetti C,
|
||
Cervellino A,
|
||
Marfia GA,
|
||
Stanzione P,
|
||
Marciani MG,
|
||
Boffa L,
|
||
Bernardi G</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2007 Mar 27;68(13):1045-50.
|
||
doi: 10.1212/01.wnl.0000257818.16952.62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17389310" target="_blank">17389310</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16478626">Transcranial magnetic stimulation screening for cord compression in cervical spondylosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lo YL,
|
||
Chan LL,
|
||
Lim W,
|
||
Tan SB,
|
||
Tan CT,
|
||
Chen JL,
|
||
Fook-Chong S,
|
||
Ratnagopal P</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2006 May 15;244(1-2):17-21.
|
||
Epub 2006 Feb 14
|
||
doi: 10.1016/j.jns.2005.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16478626" target="_blank">16478626</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15908270">Brain dysfunction in uremia: a question of cortical hyperexcitability?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Battaglia F,
|
||
Quartarone A,
|
||
Bagnato S,
|
||
Rizzo V,
|
||
Morgante F,
|
||
Floccari F,
|
||
Romeo A,
|
||
Sant'Angelo A,
|
||
Grasso G,
|
||
Girlanda P,
|
||
Buemi M</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2005 Jul;116(7):1507-14.
|
||
doi: 10.1016/j.clinph.2005.02.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15908270" target="_blank">15908270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11440743">Reduced pre-movement facilitation of motor evoked potentials in spinocerebellar degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nomura T,
|
||
Takeshima T,
|
||
Nakashima K</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2001 Jun 15;187(1-2):41-7.
|
||
doi: 10.1016/s0022-510x(01)00522-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11440743" target="_blank">11440743</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20pyramidal%20tract%20morphology%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (39)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37788157">Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinello C,
|
||
Panza E,
|
||
Orlacchio A</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Proteomics</span>
|
||
2023 Jul-Dec;20(7-9):171-188.
|
||
Epub 2023 Oct 16
|
||
doi: 10.1080/14789450.2023.2260952.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37788157" target="_blank">37788157</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36308733">Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rezende TJR,
|
||
Adanyeguh IM,
|
||
Arrigoni F,
|
||
Bender B,
|
||
Cendes F,
|
||
Corben LA,
|
||
Deistung A,
|
||
Delatycki M,
|
||
Dogan I,
|
||
Egan GF,
|
||
Göricke SL,
|
||
Georgiou-Karistianis N,
|
||
Henry PG,
|
||
Hutter D,
|
||
Jahanshad N,
|
||
Joers JM,
|
||
Lenglet C,
|
||
Lindig T,
|
||
Martinez ARM,
|
||
Martinuzzi A,
|
||
Paparella G,
|
||
Peruzzo D,
|
||
Reetz K,
|
||
Romanzetti S,
|
||
Schöls L,
|
||
Schulz JB,
|
||
Synofzik M,
|
||
Thomopoulos SI,
|
||
Thompson PM,
|
||
Timmann D,
|
||
Harding IH,
|
||
França MC Jr</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2023 Jan;38(1):45-56.
|
||
Epub 2022 Oct 29
|
||
doi: 10.1002/mds.29261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36308733" target="_blank">36308733</a><a href="/pmc/articles/PMC9852007" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12177365">Normalization of T2 signal abnormalities in hemispheric white matter with liver transplant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rovira A,
|
||
Córdoba J,
|
||
Sanpedro F,
|
||
Grivé E,
|
||
Rovira-Gols A,
|
||
Alonso J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2002 Aug 13;59(3):335-41.
|
||
doi: 10.1212/wnl.59.3.335.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12177365" target="_blank">12177365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8060430">MRI abnormalities in Behr syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marzan KA,
|
||
Barron TF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
1994 May;10(3):247-8.
|
||
doi: 10.1016/0887-8994(94)90033-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8060430" target="_blank">8060430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8006649">Sensory neuropathy in hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schady W,
|
||
Smith CM</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1994 Jun;57(6):693-8.
|
||
doi: 10.1136/jnnp.57.6.693.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8006649" target="_blank">8006649</a><a href="/pmc/articles/PMC1072972" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20pyramidal%20tract%20morphology%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (115)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37788157">Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinello C,
|
||
Panza E,
|
||
Orlacchio A</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Proteomics</span>
|
||
2023 Jul-Dec;20(7-9):171-188.
|
||
Epub 2023 Oct 16
|
||
doi: 10.1080/14789450.2023.2260952.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37788157" target="_blank">37788157</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37578488">White matter abnormalities in 15 subjects with SPG76.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alkhalifa A,
|
||
Chen S,
|
||
Hasiloglu ZI,
|
||
Filosto M,
|
||
Cali E,
|
||
Houlden H,
|
||
Sgobbi de Souza P,
|
||
Alavi A,
|
||
Goizet C,
|
||
Stevanin G,
|
||
Taithe F,
|
||
Nicita F,
|
||
Vasco G,
|
||
Tozza S,
|
||
Cocozza S,
|
||
Carboni N,
|
||
Figus A,
|
||
Wu J,
|
||
Basak AN,
|
||
Brais B,
|
||
Rouleau G,
|
||
La Piana R</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Dec;270(12):5784-5792.
|
||
Epub 2023 Aug 14
|
||
doi: 10.1007/s00415-023-11918-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37578488" target="_blank">37578488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25562885">Normalisation of brain connectivity through compensatory behaviour, despite congenital hand absence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahamy A,
|
||
Sotiropoulos SN,
|
||
Henderson Slater D,
|
||
Malach R,
|
||
Johansen-Berg H,
|
||
Makin TR</span><br />
|
||
<span class="medgenPMjournal">Elife</span>
|
||
2015 Jan 6;4
|
||
doi: 10.7554/eLife.04605.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25562885" target="_blank">25562885</a><a href="/pmc/articles/PMC4281879" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14608654">Costello syndrome and neurological abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delrue MA,
|
||
Chateil JF,
|
||
Arveiler B,
|
||
Lacombe D</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2003 Dec 15;123A(3):301-5.
|
||
doi: 10.1002/ajmg.a.20330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14608654" target="_blank">14608654</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11117494">Immunohistochemical localization of the P2Y1 purinergic receptor in Alzheimer's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moore D,
|
||
Iritani S,
|
||
Chambers J,
|
||
Emson P</span><br />
|
||
<span class="medgenPMjournal">Neuroreport</span>
|
||
2000 Nov 27;11(17):3799-803.
|
||
doi: 10.1097/00001756-200011270-00041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11117494" target="_blank">11117494</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20pyramidal%20tract%20morphology%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (197)</a></div></div>
|
||
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormal%20pyramidal%20tract%20morphology" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d40a7dcde49f3df7f0cac3">Abnormal pyramidal tract morphology</a>
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<div class="ralinkpop offscreen_noflow">Abnormal pyramidal tract morphology<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<div class="tertiary">MedGen</div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d40a742f30673f7b1666e4">Sensory axonal neuropathy</a>
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