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</div><div><span>Neuronal ceroid lipofuscinoses (NCL)</span></div></div>
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</a><h1 class="with-also" itemprop="name">Neuronal ceroid lipofuscinoses (NCL)</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down through families (inherited).</p><p>These are the three main types of NCL:</p><ul><li>Adult (Kufs or Parry disease)</li><li>Juvenile (Batten disease)</li><li>Late infantile (Jansky-Bielschowsky disease)</li></ul></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>NCL involves the buildup of an abnormal material called lipofuscin in the brain. NCL is thought to be caused by problems with the brain's ability to remove and recycle proteins.</p><p>Lipofuscinoses are inherited as <a test="test" href="./002052.htm">autosomal recessive</a> traits. This means each parent passes on a nonworking copy of the gene for the child to develop the condition.</p><p>Only one adult subtype of NCL is inherited as an autosomal dominant trait.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>Symptoms of NCL include:</p><ul><li>Abnormally increased muscle tone or spasm</li><li>Blindness or vision problems</li><li>Dementia</li><li>Lack of muscle coordination</li><li>Intellectual disability</li><li>Movement disorder</li><li>Loss of speech<br/></li><li>Seizures</li><li>Unsteady walk</li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>The disorder may be seen at birth, but it is usually diagnosed much later in childhood.</p><p>Tests include:</p><ul><li>Autofluorescence testing of a tissue biopsy (a light technique)</li><li>EEG (measures electrical activity in the brain)</li><li>Electron microscopy of a skin biopsy</li><li>Electroretinogram (an eye test)</li><li>Genetic testing</li><li>MRI or CT scans of the brain</li><li>Tissue biopsy
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</li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>There is no cure for NCL disorders. Treatment depends on the type of NCL and extent of symptoms. Your health care provider may prescribe muscle relaxants to control irritability and sleep disturbances. Medicines may also be prescribed to control seizures and anxiety. A person with NCL may need lifelong assistance and care.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Support Groups</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-5"><p>More information and support for people with NCL condition and their families can be found at:</p><ul><li>Genetic and Rare Diseases Information Center -- <a class="extln" target="_blank" href="https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis">rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis</a></li><li>Batten Disease Support and Research Association -- <a class="extln" target="_blank" href="https://bdsrafoundation.org">bdsrafoundation.org</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-6"><p>The younger the person is when the disease appears, the greater the risk for disability and early death. Those who develop the disease early can have vision problems that progress to blindness and problems with mental function that get worse. If the disease starts in the first year of life, death by age 10 is likely.</p><p>If the disease occurs in adulthood, symptoms will be milder, with no vision loss and a normal life expectancy.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-7"><p>These complications can occur:</p><ul><li>Vision impairment or blindness (with the early-onset forms of the disease)</li><li>Mental impairment, ranging from severe developmental delays at birth to <a test="test" href="./000739.htm">dementia</a> later in life</li><li>Rigid muscles (due to severe problems with the nerves that control muscle tone) </li></ul><p>The person may become totally dependent on others for help with daily activities.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-8" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-8"><p>Contact your provider if your child shows symptoms of blindness or intellectual disability.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Prevention</h2></div><div class="section-button"><button type="submit" aria-controls="section-9" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-9"><p>Genetic counseling is recommended if your family has a known history of NCL. Prenatal tests, or a test called preimplantation genetic diagnosis (PGD), may be available, depending on the specific type of disease. In PGD, an embryo is tested for abnormalities before it is implanted in the woman's womb.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Alt"><p>Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs disease; Spielmeyer-Vogt; Haltia-Santavuori disease; Hagberg-Santavuori disease</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>Elitt CM, Volpe JJ. Degenerative disorders of the newborn. In: Volpe JJ, ed. <em>Volpe's Neurology of the Newborn</em>. 7th ed. Philadelphia, PA: Elsevier; 2025:chap 33.</p><p>Pearl PL, DiBacco ML, Gibson KM. Inborn errors of metabolism and the nervous system. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. <em>Bradley and Daroff's Neurology in Clinical Practice</em>. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 91.</p><p>Seaborg KA, Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. <em>Nelson Textbook of Pediatrics</em>. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 639.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 12/31/2023</h2></div><div class="section-button"><button type="submit" aria-controls="section-version" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<div id="section-version" class="section-body"><p>Updated by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. </p>
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