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<!--
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UID=155945
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ConceptID=C0751870
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Heredodegenerative Disorders, Nervous System</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155945</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.">C0751870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Degenerative Disease, Nervous System, Hereditary; Degenerative Hereditary Diseases, Nervous System; Degenerative Hereditary Disorders, Nervous System; Disease, Hereditary Neurodegenerative; Disease, Neurodegenerative Hereditary; Diseases, Hereditary Neurodegenerative; Diseases, Neurodegenerative Hereditary; Hereditary Degenerative Disorders, Nervous System; Hereditary Disease, Neurodegenerative; Hereditary Diseases, Neurodegenerative; Hereditary Neurodegenerative Disease; Hereditary Neurodegenerative Diseases; Hereditary-Degenerative Disorders, Nervous System; Nervous System Degenerative Hereditary Diseases; Nervous System Diseases, Degenerative, Hereditary; Nervous System Hereditary Degenerative Diseases; Neurodegenerative Disease, Hereditary; Neurodegenerative Diseases, Hereditary; Neurodegenerative Hereditary Disease; Neurodegenerative Hereditary Diseases</td></tr>
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<div class="portlet_content ln">Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from <a title="Medical Subject Headings" href="http://www.nlm.nih.gov/pubs/factsheets/mesh.html" class="defSource" target="_blank">MeSH</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">Heredodegenerative Disorders, Nervous System</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/101195" ref="tree=MeSH" title="MedGen record for Degenerative Disease of Nervous System, Unspecified">Degenerative Disease of Nervous System, Unspecified</a></span><ul><li><span class="matched_ds">Heredodegenerative Disorders, Nervous System</span><ul><li><span class="TLline"><a href="/medgen/78724" ref="tree=MeSH" title="MedGen record for Alexander disease">Alexander disease</a></span><ul><li><span class="TLline"><a href="/medgen/1820954" ref="tree=MeSH" title="MedGen record for Alexander disease type I">Alexander disease type I</a></span></li><li><span class="TLline"><a href="/medgen/1842714" ref="tree=MeSH" title="MedGen record for Alexander disease type II">Alexander disease type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10158" ref="tree=MeSH" title="MedGen record for Batten-Turner congenital myopathy">Batten-Turner 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type">Metachromatic leukodystrophy, adult type</a></span></li><li><span class="TLline"><a href="/medgen/155528" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, juvenile type">Metachromatic leukodystrophy, juvenile type</a></span></li><li><span class="TLline"><a href="/medgen/155529" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, late infantile form">Metachromatic leukodystrophy, late infantile form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61440" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease">Pelizaeus-Merzbacher disease</a></span><ul><li><span class="TLline"><a href="/medgen/1740046" ref="tree=MeSH" title="MedGen record for Null syndrome">Null syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1753109" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease in female carriers">Pelizaeus-Merzbacher disease in female carriers</a></span></li><li><span class="TLline"><a href="/medgen/155959" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, classic form">Pelizaeus-Merzbacher disease, classic form</a></span></li><li><span class="TLline"><a href="/medgen/1842817" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, connatal form">Pelizaeus-Merzbacher disease, connatal form</a></span></li><li><span class="TLline"><a href="/medgen/199764" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, transitional form">Pelizaeus-Merzbacher disease, transitional form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61565" ref="tree=MeSH" title="MedGen record for Spongy degeneration of central nervous system">Spongy degeneration of central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/865564" ref="tree=MeSH" title="MedGen record for Mild Canavan disease">Mild Canavan disease</a></span></li><li><span class="TLline"><a href="/medgen/1826002" ref="tree=MeSH" title="MedGen record for Severe Canavan disease">Severe Canavan disease</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/45066" ref="tree=MeSH" title="MedGen record for Hereditary motor and sensory neuropathy">Hereditary motor and sensory neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/78675" ref="tree=MeSH" title="MedGen record for Alstrom syndrome">Alstrom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2980" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease">Charcot-Marie-Tooth disease</a></span><ul><li><span class="TLline"><a href="/medgen/375064" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2K">Charcot-Marie-Tooth disease axonal type 2K</a></span></li><li><span class="TLline"><a href="/medgen/334023" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease dominant intermediate C">Charcot-Marie-Tooth disease dominant intermediate C</a></span></li><li><span class="TLline"><a href="/medgen/928336" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease dominant intermediate E">Charcot-Marie-Tooth disease dominant intermediate E</a></span></li><li><span class="TLline"><a href="/medgen/1666273" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease dominant intermediate F">Charcot-Marie-Tooth disease dominant intermediate F</a></span></li><li><span class="TLline"><a href="/medgen/124378" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2">Charcot-Marie-Tooth disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/905419" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4">Charcot-Marie-Tooth disease type 4</a></span></li><li><span class="TLline"><a href="/medgen/124377" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 1B">Charcot-Marie-Tooth disease type 1B</a></span></li><li><span class="TLline"><a href="/medgen/350076" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2A1">Charcot-Marie-Tooth disease type 2A1</a></span></li><li><span class="TLline"><a href="/medgen/316946" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2D">Charcot-Marie-Tooth disease type 2D</a></span></li><li><span class="TLline"><a href="/medgen/375127" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2E">Charcot-Marie-Tooth disease type 2E</a></span></li><li><span class="TLline"><a href="/medgen/356581" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4C">Charcot-Marie-Tooth disease type 4C</a></span></li><li><span class="TLline"><a href="/medgen/370808" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4J">Charcot-Marie-Tooth disease type 4J</a></span></li><li><span class="TLline"><a href="/medgen/98290" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease X-linked dominant 1">Charcot-Marie-Tooth disease X-linked dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/389169" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease, type 2A">Charcot-Marie-Tooth disease, type 2A</a></span></li><li><span class="TLline"><a href="/medgen/155486" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease, type I">Charcot-Marie-Tooth disease, type I</a></span></li><li><span class="TLline"><a href="/medgen/75727" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease, type IA">Charcot-Marie-Tooth disease, type IA</a></span></li><li><span class="TLline"><a href="/medgen/468447" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth Neuropathy X">Charcot-Marie-Tooth Neuropathy X</a></span></li><li><span class="TLline"><a href="/medgen/3710" ref="tree=MeSH" title="MedGen record for Dejerine-Sottas disease">Dejerine-Sottas disease</a></span></li><li><span class="TLline"><a href="/medgen/356618" ref="tree=MeSH" title="MedGen record for Neuronopathy, distal hereditary motor, autosomal dominant 1">Neuronopathy, distal hereditary motor, autosomal dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/349240" ref="tree=MeSH" title="MedGen record for Polyneuropathy-hand defect syndrome">Polyneuropathy-hand defect syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1684765" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy">Giant axonal neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/376775" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy 1">Giant axonal neuropathy 1</a></span></li><li><span class="TLline"><a href="/medgen/400593" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy 2">Giant axonal neuropathy 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20844" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia">Hereditary spastic paraplegia</a></span><ul><li><span class="TLline"><a href="/medgen/934734" ref="tree=MeSH" title="MedGen record for Cerebral palsy, spastic quadriplegic, 3">Cerebral palsy, spastic quadriplegic, 3</a></span></li><li><span class="TLline"><a href="/medgen/339552" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 7">Hereditary spastic paraplegia 7</a></span></li><li><span class="TLline"><a href="/medgen/388073" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 11">Hereditary spastic paraplegia 11</a></span></li><li><span class="TLline"><a href="/medgen/419393" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 3A">Hereditary spastic paraplegia 3A</a></span></li><li><span class="TLline"><a href="/medgen/481368" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 47">Hereditary spastic paraplegia 47</a></span></li><li><span class="TLline"><a href="/medgen/376521" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 5A">Hereditary spastic paraplegia 5A</a></span></li><li><span class="TLline"><a href="/medgen/777979" ref="tree=MeSH" title="MedGen record for Spastic Paraplegia 4">Spastic Paraplegia 4</a></span></li><li><span class="TLline"><a href="/medgen/1678550" ref="tree=MeSH" title="MedGen record for Spastic Paraplegia 76">Spastic Paraplegia 76</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11161" ref="tree=MeSH" title="MedGen record for Phytanic acid storage disease">Phytanic acid storage disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45207" ref="tree=MeSH" title="MedGen record for Hereditary optic atrophy">Hereditary optic atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/137902" ref="tree=MeSH" title="MedGen record for Autosomal dominant optic atrophy classic form">Autosomal dominant optic atrophy classic form</a></span></li><li><span class="TLline"><a href="/medgen/1647918" ref="tree=MeSH" title="MedGen record for Dominant hereditary optic atrophy">Dominant hereditary optic atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/895207" ref="tree=MeSH" title="MedGen record for Autosomal dominant optic atrophy and peripheral neuropathy">Autosomal dominant optic atrophy and peripheral neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/976364" ref="tree=MeSH" title="MedGen record for Autosomal dominant optic atrophy plus syndrome">Autosomal dominant optic atrophy plus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/371657" ref="tree=MeSH" title="MedGen record for Optic atrophy 3">Optic atrophy 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/182973" ref="tree=MeSH" title="MedGen record for Leber optic atrophy">Leber optic atrophy</a></span></li><li><span class="TLline"><a href="/medgen/21923" ref="tree=MeSH" title="MedGen record for Wolfram syndrome">Wolfram syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1641635" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 1">Wolfram syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/347604" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 2">Wolfram syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/325511" ref="tree=MeSH" title="MedGen record for Wolfram syndrome, mitochondrial form">Wolfram syndrome, mitochondrial form</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/14355" ref="tree=MeSH" title="MedGen record for Hereditary sensory and autonomic neuropathy">Hereditary sensory and autonomic neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/1830087" ref="tree=MeSH" title="MedGen record for Congenital insensitivity to pain with hyperhidrosis">Congenital insensitivity to pain with hyperhidrosis</a></span></li><li><span class="TLline"><a href="/medgen/41678" ref="tree=MeSH" title="MedGen record for Familial dysautonomia">Familial dysautonomia</a></span></li><li><span class="TLline"><a href="/medgen/930069" ref="tree=MeSH" title="MedGen record for X-linked hereditary sensory and autonomic neuropathy with hearing loss">X-linked hereditary sensory and autonomic neuropathy with hearing loss</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5654" ref="tree=MeSH" title="MedGen record for Huntington disease">Huntington disease</a></span><ul><li><span class="TLline"><a href="/medgen/155518" ref="tree=MeSH" title="MedGen record for Juvenile Huntington disease">Juvenile Huntington disease</a></span></li><li><span class="TLline"><a href="/medgen/224821" ref="tree=MeSH" title="MedGen record for Westphal disease">Westphal disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/333282" ref="tree=MeSH" title="MedGen record for Kennedy disease">Kennedy disease</a></span></li><li><span class="TLline"><a href="/medgen/155631" ref="tree=MeSH" title="MedGen record for Lafora disease">Lafora disease</a></span><ul><li><span class="TLline"><a href="/medgen/1844054" ref="tree=MeSH" title="MedGen record for Myoclonic epilepsy of Lafora 1">Myoclonic epilepsy of Lafora 1</a></span></li><li><span class="TLline"><a href="/medgen/340621" ref="tree=MeSH" title="MedGen record for Myoclonic epilepsy of Lafora 2">Myoclonic epilepsy of Lafora 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10239" ref="tree=MeSH" title="MedGen record for Myotonic dystrophy">Myotonic dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/98051" ref="tree=MeSH" title="MedGen record for Congenital myotonic dystrophy">Congenital myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/44565" ref="tree=MeSH" title="MedGen record for Myotonic cataract">Myotonic cataract</a></span></li><li><span class="TLline"><a href="/medgen/419137" ref="tree=MeSH" title="MedGen record for Myotonic dystrophy type 2">Myotonic dystrophy type 2</a></span></li><li><span class="TLline"><a href="/medgen/886881" ref="tree=MeSH" title="MedGen record for Steinert myotonic dystrophy syndrome">Steinert myotonic dystrophy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1843180" ref="tree=MeSH" title="MedGen record for Adult-onset Steinert myotonic dystrophy">Adult-onset Steinert myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1842487" ref="tree=MeSH" title="MedGen record for Childhood-onset Steinert myotonic dystrophy">Childhood-onset Steinert myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1842512" ref="tree=MeSH" title="MedGen record for Congenital-onset Steinert myotonic dystrophy">Congenital-onset Steinert myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1843227" ref="tree=MeSH" title="MedGen record for Juvenile-onset Steinert myotonic dystrophy">Juvenile-onset Steinert myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1842603" ref="tree=MeSH" title="MedGen record for Late-onset Steinert myotonic dystrophy">Late-onset Steinert myotonic dystrophy</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/58149" ref="tree=MeSH" title="MedGen record for Neurofibromatosis">Neurofibromatosis</a></span><ul><li><span class="TLline"><a href="/medgen/68621" ref="tree=MeSH" title="MedGen record for Aggravated Neurofibromatosis">Aggravated Neurofibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/18013" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type 1">Neurofibromatosis, type 1</a></span><ul><li><span class="TLline"><a href="/medgen/1726802" ref="tree=MeSH" title="MedGen record for Chromosome 17q11.2 deletion syndrome, 1.4Mb">Chromosome 17q11.2 deletion syndrome, 1.4Mb</a></span></li><li><span class="TLline"><a href="/medgen/1842855" ref="tree=MeSH" title="MedGen record for Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion">Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion</a></span></li><li><span class="TLline"><a href="/medgen/1643872" ref="tree=MeSH" title="MedGen record for Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas">Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas</a></span></li><li><span class="TLline"><a href="/medgen/1668269" ref="tree=MeSH" title="MedGen record for Recurrent Neurofibromatosis Type 1">Recurrent Neurofibromatosis Type 1</a></span></li><li><span class="TLline"><a href="/medgen/1656136" ref="tree=MeSH" title="MedGen record for Refractory Neurofibromatosis Type 1">Refractory Neurofibromatosis Type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18014" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type 2">Neurofibromatosis, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10326" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis">Neuronal ceroid lipofuscinosis</a></span><ul><li><span class="TLline"><a href="/medgen/7230" ref="tree=MeSH" title="MedGen record for Adult neuronal ceroid lipofuscinosis">Adult neuronal ceroid lipofuscinosis</a></span><ul><li><span class="TLline"><a href="/medgen/320287" ref="tree=MeSH" title="MedGen record for Ceroid lipofuscinosis, neuronal, 4 (Kufs type)">Ceroid lipofuscinosis, neuronal, 4 (Kufs type)</a></span></li><li><span class="TLline"><a href="/medgen/1790423" ref="tree=MeSH" title="MedGen record for Ceroid lipofuscinosis, neuronal, 6A">Ceroid lipofuscinosis, neuronal, 6A</a></span></li><li><span class="TLline"><a href="/medgen/1794137" ref="tree=MeSH" title="MedGen record for Ceroid lipofuscinosis, neuronal, 6B (Kufs type)">Ceroid lipofuscinosis, neuronal, 6B (Kufs type)</a></span></li><li><span class="TLline"><a href="/medgen/340540" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 1">Neuronal ceroid lipofuscinosis 1</a></span></li><li><span class="TLline"><a href="/medgen/350481" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 10">Neuronal ceroid lipofuscinosis 10</a></span></li><li><span class="TLline"><a href="/medgen/761331" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 11">Neuronal ceroid lipofuscinosis 11</a></span></li><li><span class="TLline"><a href="/medgen/811566" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 13">Neuronal ceroid lipofuscinosis 13</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/351189" ref="tree=MeSH" title="MedGen record for Congenital neuronal ceroid lipofuscinosis">Congenital neuronal ceroid lipofuscinosis</a></span></li><li><span class="TLline"><a href="/medgen/75666" ref="tree=MeSH" title="MedGen record for Infantile neuronal ceroid lipofuscinosis">Infantile neuronal ceroid lipofuscinosis</a></span><ul><li><span class="TLline"><a href="/medgen/388595" ref="tree=MeSH" title="MedGen record for Progressive myoclonic epilepsy type 3">Progressive myoclonic epilepsy type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/978346" ref="tree=MeSH" title="MedGen record for Juvenile neuronal ceroid lipofuscinosis">Juvenile neuronal ceroid lipofuscinosis</a></span><ul><li><span class="TLline"><a href="/medgen/406281" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 2">Neuronal ceroid lipofuscinosis 2</a></span></li><li><span class="TLline"><a href="/medgen/155549" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 3">Neuronal ceroid lipofuscinosis 3</a></span></li><li><span class="TLline"><a href="/medgen/374004" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 8">Neuronal ceroid lipofuscinosis 8</a></span></li><li><span class="TLline"><a href="/medgen/332304" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 9">Neuronal ceroid lipofuscinosis 9</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9589" ref="tree=MeSH" title="MedGen record for Late-infantile neuronal ceroid lipofuscinosis">Late-infantile neuronal ceroid lipofuscinosis</a></span><ul><li><span class="TLline"><a href="/medgen/376792" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 5">Neuronal ceroid lipofuscinosis 5</a></span></li><li><span class="TLline"><a href="/medgen/325457" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 7">Neuronal ceroid lipofuscinosis 7</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/355328" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 8 northern epilepsy variant">Neuronal ceroid lipofuscinosis 8 northern epilepsy variant</a></span></li><li><span class="TLline"><a href="/medgen/924712" ref="tree=MeSH" title="MedGen record for Neuronal Ceroid Lipofuscinosis Type 4B">Neuronal Ceroid Lipofuscinosis Type 4B</a></span></li><li><span class="TLline"><a href="/medgen/830971" ref="tree=MeSH" title="MedGen record for Parkinsonism due to ATP13A2 deficiency">Parkinsonism due to ATP13A2 deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6708" ref="tree=MeSH" title="MedGen record for Pigmentary pallidal degeneration">Pigmentary pallidal degeneration</a></span><ul><li><span class="TLline"><a href="/medgen/1800044" ref="tree=MeSH" title="MedGen record for Atypical pantothenate kinase-associated neurodegeneration">Atypical pantothenate kinase-associated neurodegeneration</a></span></li><li><span class="TLline"><a href="/medgen/1826057" ref="tree=MeSH" title="MedGen record for Classic pantothenate kinase-associated neurodegeneration">Classic pantothenate kinase-associated neurodegeneration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/148615" ref="tree=MeSH" title="MedGen record for Spinal Muscular Atrophy of Childhood">Spinal Muscular Atrophy of Childhood</a></span></li><li><span class="TLline"><a href="/medgen/11554" ref="tree=MeSH" title="MedGen record for spinocerebellar disease">spinocerebellar disease</a></span><ul><li><span class="TLline"><a href="/medgen/2956" ref="tree=MeSH" title="MedGen record for Early onset cerebellar ataxia with myoclonus">Early onset cerebellar ataxia with myoclonus</a></span></li><li><span class="TLline"><a href="/medgen/5276" ref="tree=MeSH" title="MedGen record for Friedreich ataxia">Friedreich ataxia</a></span><ul><li><span class="TLline"><a href="/medgen/383962" ref="tree=MeSH" title="MedGen record for Friedreich ataxia 1">Friedreich ataxia 1</a></span></li><li><span class="TLline"><a href="/medgen/356134" ref="tree=MeSH" title="MedGen record for Friedreich ataxia 2">Friedreich ataxia 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10435" ref="tree=MeSH" title="MedGen record for Olivopontocerebellar atrophy">Olivopontocerebellar atrophy</a></span></li><li><span class="TLline"><a href="/medgen/39733" ref="tree=MeSH" title="MedGen record for Spinocerebellar atrophy">Spinocerebellar atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/767604" ref="tree=MeSH" title="MedGen record for Ataxia with oculomotor apraxia type 3">Ataxia with oculomotor apraxia type 3</a></span></li><li><span class="TLline"><a href="/medgen/395301" ref="tree=MeSH" title="MedGen record for Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia">Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia</a></span></li><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1684639" ref="tree=MeSH" title="MedGen record for Autosomal dominant cerebellar ataxia">Autosomal dominant cerebellar ataxia</a></span></li><li><span class="TLline"><a href="/medgen/1843058" ref="tree=MeSH" title="MedGen record for Autosomal recessive cerebellar ataxia">Autosomal recessive cerebellar ataxia</a></span></li><li><span class="TLline"><a href="/medgen/9841" ref="tree=MeSH" title="MedGen record for Azorean disease">Azorean disease</a></span></li><li><span class="TLline"><a href="/medgen/341248" ref="tree=MeSH" title="MedGen record for Familial isolated deficiency of vitamin E">Familial isolated deficiency of vitamin E</a></span></li><li><span class="TLline"><a href="/medgen/156006" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia 7">Spinocerebellar ataxia 7</a></span></li><li><span class="TLline"><a href="/medgen/155703" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 1">Spinocerebellar ataxia type 1</a></span></li><li><span class="TLline"><a href="/medgen/155704" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 2">Spinocerebellar ataxia type 2</a></span></li><li><span class="TLline"><a href="/medgen/148458" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 6">Spinocerebellar ataxia type 6</a></span></li><li><span class="TLline"><a href="/medgen/347653" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 12">Spinocerebellar ataxia type 12</a></span></li><li><span class="TLline"><a href="/medgen/337637" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 17">Spinocerebellar ataxia type 17</a></span></li><li><span class="TLline"><a href="/medgen/1711119" ref="tree=MeSH" title="MedGen record for Spinocerebellar Ataxia Type 19/22">Spinocerebellar Ataxia Type 19/22</a></span></li><li><span class="TLline"><a href="/medgen/348439" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 31">Spinocerebellar ataxia type 31</a></span></li><li><span class="TLline"><a href="/medgen/483339" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 36">Spinocerebellar ataxia type 36</a></span></li><li><span class="TLline"><a href="/medgen/902592" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia type 42">Spinocerebellar ataxia type 42</a></span></li><li><span class="TLline"><a href="/medgen/340052" ref="tree=MeSH" title="MedGen record for Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2">Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/3941" ref="tree=MeSH" title="MedGen record for Torsion dystonia">Torsion dystonia</a></span><ul><li><span class="TLline"><a href="/medgen/98279" ref="tree=MeSH" title="MedGen record for Acquired idiopathic torsion dystonia">Acquired idiopathic torsion dystonia</a></span></li><li><span class="TLline"><a href="/medgen/95980" ref="tree=MeSH" title="MedGen record for Familial idiopathic torsion dystonia">Familial idiopathic torsion dystonia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21219" ref="tree=MeSH" title="MedGen record for Tourette syndrome">Tourette syndrome</a></span></li><li><span class="TLline"><a href="/medgen/22518" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis syndrome">Tuberous sclerosis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/325000" ref="tree=MeSH" title="MedGen record for Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis">Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/344288" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 1">Tuberous sclerosis 1</a></span></li><li><span class="TLline"><a href="/medgen/348170" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 2">Tuberous sclerosis 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/155923" ref="tree=MeSH" title="MedGen record for Unverricht-Lundborg syndrome">Unverricht-Lundborg syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42426" ref="tree=MeSH" title="MedGen record for Wilson disease">Wilson disease</a></span></li><li><span class="TLline"><a href="/medgen/211749" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability">X-linked intellectual disability</a></span><ul><li><span class="TLline"><a href="/medgen/408200" ref="tree=MeSH" title="MedGen record for Classical Lissencephalies and Subcortical Band Heterotopias">Classical Lissencephalies and Subcortical Band Heterotopias</a></span></li><li><span class="TLline"><a href="/medgen/75556" ref="tree=MeSH" title="MedGen record for Coffin-Lowry syndrome">Coffin-Lowry syndrome</a></span></li><li><span class="TLline"><a href="/medgen/209235" ref="tree=MeSH" title="MedGen record for Danon disease">Danon disease</a></span></li><li><span class="TLline"><a href="/medgen/8912" ref="tree=MeSH" title="MedGen record for Fragile X syndrome">Fragile X syndrome</a></span></li><li><span class="TLline"><a href="/medgen/9721" ref="tree=MeSH" title="MedGen record for Lesch-Nyhan syndrome">Lesch-Nyhan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44030" ref="tree=MeSH" title="MedGen record for Menkes kinky-hair syndrome">Menkes kinky-hair syndrome</a></span></li><li><span class="TLline"><a href="/medgen/7734" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-II">Mucopolysaccharidosis, MPS-II</a></span><ul><li><span class="TLline"><a href="/medgen/1826165" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 2, attenuated form">Mucopolysaccharidosis type 2, attenuated form</a></span></li><li><span class="TLline"><a href="/medgen/575246" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 2, severe form">Mucopolysaccharidosis type 2, severe form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19610" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase complex deficiency">Pyruvate dehydrogenase complex deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/326486" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E1-alpha deficiency">Pyruvate dehydrogenase E1-alpha deficiency</a></span></li><li><span class="TLline"><a href="/medgen/481471" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E1-beta deficiency">Pyruvate dehydrogenase E1-beta deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343386" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E2 deficiency">Pyruvate dehydrogenase E2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1805500" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E3 deficiency">Pyruvate dehydrogenase E3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343383" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E3-binding protein deficiency">Pyruvate dehydrogenase E3-binding protein deficiency</a></span></li><li><span class="TLline"><a href="/medgen/332448" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase phosphatase deficiency">Pyruvate dehydrogenase phosphatase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48441" ref="tree=MeSH" title="MedGen record for Rett syndrome">Rett syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/462055" ref="tree=MeSH" title="MedGen record for Rett syndrome, congenital variant">Rett syndrome, congenital variant</a></span></li><li><span class="TLline"><a href="/medgen/409616" ref="tree=MeSH" title="MedGen record for Severe neonatal-onset encephalopathy with microcephaly">Severe neonatal-onset encephalopathy with microcephaly</a></span></li></ul></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_105">
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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>
|
||
<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>
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<div class="nl"><a target="_blank" href="/pubmed/35140138">Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yiu EM,
|
||
Bray P,
|
||
Baets J,
|
||
Baker SK,
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||
Barisic N,
|
||
de Valle K,
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||
Estilow T,
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||
Farrar MA,
|
||
Finkel RS,
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||
Haberlová J,
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||
Kennedy RA,
|
||
Moroni I,
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||
Nicholson GA,
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Ramchandren S,
|
||
Reilly MM,
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||
Rose K,
|
||
Shy ME,
|
||
Siskind CE,
|
||
Yum SW,
|
||
Menezes MP,
|
||
Ryan MM,
|
||
Burns J</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2022 May;93(5):530-538.
|
||
Epub 2022 Feb 9
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||
doi: 10.1136/jnnp-2021-328483.
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||
<span class="bold">PMID: </span><a href="/pubmed/35140138" target="_blank">35140138</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34399110">Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Northrup H,
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Aronow ME,
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||
Bebin EM,
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||
Bissler J,
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||
Darling TN,
|
||
de Vries PJ,
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||
Frost MD,
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Fuchs Z,
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||
Gosnell ES,
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||
Gupta N,
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Jansen AC,
|
||
Jóźwiak S,
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||
Kingswood JC,
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||
Knilans TK,
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||
McCormack FX,
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||
Pounders A,
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||
Roberds SL,
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||
Rodriguez-Buritica DF,
|
||
Roth J,
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||
Sampson JR,
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||
Sparagana S,
|
||
Thiele EA,
|
||
Weiner HL,
|
||
Wheless JW,
|
||
Towbin AJ,
|
||
Krueger DA;
|
||
International Tuberous Sclerosis Complex Consensus Group</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2021 Oct;123:50-66.
|
||
Epub 2021 Jul 24
|
||
doi: 10.1016/j.pediatrneurol.2021.07.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34399110" target="_blank">34399110</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29053830">Friedreich's ataxia: clinical features, pathogenesis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cook A,
|
||
Giunti P</span><br />
|
||
<span class="medgenPMjournal">Br Med Bull</span>
|
||
2017 Dec 1;124(1):19-30.
|
||
doi: 10.1093/bmb/ldx034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29053830" target="_blank">29053830</a><a href="/pmc/articles/PMC5862303" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(heredodegenerative%20disorders%2C%20nervous%20system)%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 (3486)</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/33545028">The diagnostic odyssey: our family's story.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller D</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2021 Feb 4;108(2):217-218.
|
||
doi: 10.1016/j.ajhg.2021.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33545028" target="_blank">33545028</a><a href="/pmc/articles/PMC8175868" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29891078">Recessive ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Synofzik M,
|
||
Németh AH</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;155:73-89.
|
||
doi: 10.1016/B978-0-444-64189-2.00005-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29891078" target="_blank">29891078</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23026741">Antisense oligonucleotide therapeutics for inherited neurodegenerative diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Southwell AL,
|
||
Skotte NH,
|
||
Bennett CF,
|
||
Hayden MR</span><br />
|
||
<span class="medgenPMjournal">Trends Mol Med</span>
|
||
2012 Nov;18(11):634-43.
|
||
Epub 2012 Sep 28
|
||
doi: 10.1016/j.molmed.2012.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23026741" target="_blank">23026741</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16987883">Untangling the tau gene association with neurodegenerative disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pittman AM,
|
||
Fung HC,
|
||
de Silva R</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2006 Oct 15;15 Spec No 2:R188-95.
|
||
doi: 10.1093/hmg/ddl190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16987883" target="_blank">16987883</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11589913">Genetic risk factors in familial Alzheimer's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sorbi S,
|
||
Forleo P,
|
||
Tedde A,
|
||
Cellini E,
|
||
Ciantelli M,
|
||
Bagnoli S,
|
||
Nacmias B</span><br />
|
||
<span class="medgenPMjournal">Mech Ageing Dev</span>
|
||
2001 Nov;122(16):1951-60.
|
||
doi: 10.1016/s0047-6374(01)00308-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11589913" target="_blank">11589913</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heredodegenerative%20Disorders%2C%20Nervous%20System%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 (93)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33545028">The diagnostic odyssey: our family's story.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller D</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2021 Feb 4;108(2):217-218.
|
||
doi: 10.1016/j.ajhg.2021.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33545028" target="_blank">33545028</a><a href="/pmc/articles/PMC8175868" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33003000">Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein CJ</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2020 Oct;26(5):1224-1256.
|
||
doi: 10.1212/CON.0000000000000927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33003000" target="_blank">33003000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29891078">Recessive ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Synofzik M,
|
||
Németh AH</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;155:73-89.
|
||
doi: 10.1016/B978-0-444-64189-2.00005-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29891078" target="_blank">29891078</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27487380">A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salomão RP,
|
||
Pedroso JL,
|
||
Gama MT,
|
||
Dutra LA,
|
||
Maciel RH,
|
||
Godeiro-Junior C,
|
||
Chien HF,
|
||
Teive HA,
|
||
Cardoso F,
|
||
Barsottini OG</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2016 Jul;74(7):587-96.
|
||
doi: 10.1590/0004-282X20160080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27487380" target="_blank">27487380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11391753">Neurodegenerative Huntington-like disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bohlega S,
|
||
Al-Tahan A,
|
||
Kambouris M,
|
||
Divakaran M</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2001 May;16(3):533-4.
|
||
doi: 10.1002/mds.1079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11391753" target="_blank">11391753</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heredodegenerative%20Disorders%2C%20Nervous%20System%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 (132)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37651973">Deep Brain Stimulation for Dystonia: Experience of a Moroccan University Hospital.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">El Otmani H,
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El Moutawakil B,
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Daghi M,
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Fadili O,
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Slassi I,
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El Azhari A,
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Essodegui F,
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Barrou L,
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Rafai MA,
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Lakhdar A</span><br />
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|
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<span class="bold">PMID: </span><a href="/pubmed/37651973" target="_blank">37651973</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36411289">Micro lesion effect of pallidal deep‑brain stimulation for meige syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
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Ding H,
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Skotte NH,
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<span class="bold">PMID: </span><a href="/pubmed/21906541" target="_blank">21906541</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Benarroch EE</span><br />
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2007 Aug 21;69(8):799-802.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heredodegenerative%20Disorders%2C%20Nervous%20System%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 (23)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36411289">Micro lesion effect of pallidal deep‑brain stimulation for meige syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
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Ding H,
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Xu K,
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Wang D,
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Ouyang J,
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Liu Z,
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Liu R</span><br />
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2022 Nov 21;12(1):19980.
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||
<div class="nl"><a target="_blank" href="/pubmed/33003000">Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Klein CJ</span><br />
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<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
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2020 Oct;26(5):1224-1256.
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doi: 10.1212/CON.0000000000000927.
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<span class="bold">PMID: </span><a href="/pubmed/33003000" target="_blank">33003000</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20231860">Polyglutamine toxicity in non-neuronal cells.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bradford JW,
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2010 Apr;20(4):400-7.
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Epub 2010 Mar 16
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|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/15358730">Polyalanine expansions in human.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Amiel J,
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Trochet D,
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Clément-Ziza M,
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Munnich A,
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Lyonnet S</span><br />
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<span class="medgenPMjournal">Hum Mol Genet</span>
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2004 Oct 1;13 Spec No 2:R235-43.
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doi: 10.1093/hmg/ddh251.
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<span class="bold">PMID: </span><a href="/pubmed/15358730" target="_blank">15358730</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12785744">Hereditary causes of chorea in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathews KD</span><br />
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<span class="medgenPMjournal">Semin Pediatr Neurol</span>
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2003 Mar;10(1):20-5.
|
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doi: 10.1016/s1071-9091(02)00005-0.
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<span class="bold">PMID: </span><a href="/pubmed/12785744" target="_blank">12785744</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heredodegenerative%20Disorders%2C%20Nervous%20System%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 (58)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37651973">Deep Brain Stimulation for Dystonia: Experience of a Moroccan University Hospital.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Otmani H,
|
||
El Moutawakil B,
|
||
Daghi M,
|
||
Fadili O,
|
||
Slassi I,
|
||
El Azhari A,
|
||
Essodegui F,
|
||
Barrou L,
|
||
Rafai MA,
|
||
Lakhdar A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2023 Nov;148:23-27.
|
||
Epub 2023 Aug 9
|
||
doi: 10.1016/j.pediatrneurol.2023.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37651973" target="_blank">37651973</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33003000">Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein CJ</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2020 Oct;26(5):1224-1256.
|
||
doi: 10.1212/CON.0000000000000927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33003000" target="_blank">33003000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28687782">Human Cochlear Histopathology Reflects Clinical Signatures of Primary Neural Degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sagers JE,
|
||
Landegger LD,
|
||
Worthington S,
|
||
Nadol JB,
|
||
Stankovic KM</span><br />
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<span class="medgenPMjournal">Sci Rep</span>
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||
2017 Jul 7;7(1):4884.
|
||
doi: 10.1038/s41598-017-04899-9.
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||
<span class="bold">PMID: </span><a href="/pubmed/28687782" target="_blank">28687782</a><a href="/pmc/articles/PMC5501826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15642849">Polyglutamine diseases and transport problems: deadly traffic jams on neuronal highways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gunawardena S,
|
||
Goldstein LS</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
2005 Jan;62(1):46-51.
|
||
doi: 10.1001/archneur.62.1.46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15642849" target="_blank">15642849</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15358730">Polyalanine expansions in human.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amiel J,
|
||
Trochet D,
|
||
Clément-Ziza M,
|
||
Munnich A,
|
||
Lyonnet S</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2004 Oct 1;13 Spec No 2:R235-43.
|
||
doi: 10.1093/hmg/ddh251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15358730" target="_blank">15358730</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heredodegenerative%20Disorders%2C%20Nervous%20System%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 (72)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37999699">Deep Brain Stimulation for GNAO1-Associated Dystonia: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Decraene B,
|
||
Smeets S,
|
||
Remans D,
|
||
Ortibus E,
|
||
Vandenberghe W,
|
||
Nuttin B,
|
||
Theys T,
|
||
De Vloo P</span><br />
|
||
<span class="medgenPMjournal">Neuromodulation</span>
|
||
2024 Apr;27(3):440-446.
|
||
Epub 2023 Nov 24
|
||
doi: 10.1016/j.neurom.2023.10.187.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37999699" target="_blank">37999699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28595509">Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Milne SC,
|
||
Corben LA,
|
||
Georgiou-Karistianis N,
|
||
Delatycki MB,
|
||
Yiu EM</span><br />
|
||
<span class="medgenPMjournal">Neurorehabil Neural Repair</span>
|
||
2017 Jul;31(7):609-622.
|
||
Epub 2017 Jun 9
|
||
doi: 10.1177/1545968317712469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28595509" target="_blank">28595509</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28339400">A Systematic Review of the Huntington Disease-Like 2 Phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson DG,
|
||
Walker RH,
|
||
Connor M,
|
||
Carr J,
|
||
Margolis RL,
|
||
Krause A</span><br />
|
||
<span class="medgenPMjournal">J Huntingtons Dis</span>
|
||
2017;6(1):37-46.
|
||
doi: 10.3233/JHD-160232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28339400" target="_blank">28339400</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heredodegenerative%20Disorders%2C%20Nervous%20System%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(heredodegenerative%20disorders%2C%20nervous%20system)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Heredodegenerative%20Disorders%2C%20Nervous%20System%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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