CLN4 disease: MedlinePlus Genetics

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the sharing features on this page, please enable JavaScript.</span></noscript> </div> <div class="main"> <div class="mp-exp exp-full" data-bookmark="description"> <h2>Description</h2> <section><div class="mp-content"><p>CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.</p><p>People with CLN4 disease often develop seizures and uncontrollable muscle jerks (myoclonic epilepsy), a decline in intellectual function (dementia), problems with coordination and balance (ataxia), tremors or other involuntary movements (motor tics), and speech difficulties (dysarthria). The signs and symptoms of CLN4 disease worsen over time, and affected individuals usually survive about 15 years after the disorder begins.</p><p>CLN4 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. (The adult forms of NCLs, which includes CLN4 disease, are sometimes known as Kufs disease.) All the NCLs affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.</p></div> </section> </div> <div class="mp-exp exp-full" data-bookmark="frequency"> <h2>Frequency</h2> <section><div class="mp-content"><p>CLN4 disease is a rare disorder, but its prevalence is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide.</p></div> </section> </div> <div class="mp-exp exp-full" data-bookmark="causes"> <h2>Causes</h2> <section><div class="mp-content"><p>Mutations in the <i><a data-pid="19175" href="https://medlineplus.gov/genetics/gene/dnajc5/">DNAJC5</a></i> gene cause CLN4 disease. The <i>DNAJC5</i> gene provides instructions for making a protein called cysteine string protein alpha (CSP伪). This protein is found in the brain, where it plays a role in the <a class="image-modal" data-alt="Diagram showing parts of a neuron and structure of a typical chemical synapse. Neurotransmitters are shown packaged into synaptic vesicles and transmitting signals from a neuron to a target cell across the synapse." data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX00011G_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00011G" data-sourceurl="" data-title="Release and uptake of neurotransmitters at a nerve cell synapse" href="https://medlineplus.gov/images/PX00011G_PRESENTATION.jpeg" id="PX00011G_2" title="Show image">transmission of nerve impulses<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, helping nerve cells communicate with each other. Specifically, CSP伪 is involved in recycling certain proteins that are involved in nerve impulse transmission by refolding misshapen proteins so that they can be used in additional transmissions.</p><p><i>DNAJC5</i> gene mutations lead to the production of an altered CSP伪 protein. The altered protein cannot perform its function, which reduces protein recycling, causing a shortage (deficiency) of functional proteins needed for impulse transmission. Without normal communication between nerve cells, neurological functions are impaired, contributing to the features of CLN4 disease.</p><p>CLN4 disease, like other NCLs, is characterized by the accumulation of proteins and other substances in lysosomes, which are compartments in the cell that digest and recycle materials. These accumulations occur in cells throughout the body; however, nerve cells seem to be particularly vulnerable to their effects. The accumulations can cause cell damage leading to cell death. The progressive death of nerve cells in the brain and other tissues contributes to the decline of neurological function in CLN4 disease. However, it is unclear how mutations in the <i>DNAJC5</i> gene are involved in the buildup of substances in lysosomes.</p></div> </section> <section> <div class="related-genes mp-exp exp-full"> <h3>Learn more about the gene associated with CLN4 disease</h3> <ul class="relatedmp"> <li><a href="https://medlineplus.gov/genetics/gene/dnajc5/">DNAJC5</a></li> </ul> </div> </section> </div> <div class="mp-exp exp-full" data-bookmark="inheritance"> <h2>Inheritance</h2> <section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Neither parent has the mutated gene. A spontaneous mutation occurs during the formation of an egg or sperm cell during embryonic development, leading to an affected child." data-caption=" " data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A8" data-sourceurl="" data-title="Autosomal dominant inheritance with a new (de novo) mutation" href="https://medlineplus.gov/images/PX0000A8_PRESENTATION.jpeg" id="PX0000A8_1" title="Show image">autosomal dominant pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means one copy of the altered gene in each cell is sufficient to cause the disorder.</p><p>Some cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual鈥檚 parent or in early embryonic development. These cases occur in people with no history of the disorder in their family.</p></div> </section> </div> <div class="mp-exp exp-full" data-bookmark="synonyms"> <h2>Other Names for This Condition</h2> <section> <ul class="bulletlist"> <li>Adult neuronal ceroid lipofuscinosis</li> <li>Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant</li> <li>CLN4B</li> <li>Parry disease</li> </ul> </section> </div> <div class="mp-exp exp-full" data-bookmark="resources"> <h2>Additional Information & Resources</h2> <section> <div class="mp-content"> <h2>Genetic Testing Information</h2> <ul> <li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C1834207/" target="TheNewWin">Genetic Testing Registry: Ceroid lipofuscinosis, neuronal, 4 (Kufs type)</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li> </ul> </div> </section> <section> <div class="mp-content"> <h2>Genetic and Rare Diseases Information Center</h2> <ul> <li><a href="https://rarediseases.info.nih.gov/diseases/10973/index" target="TheNewWin">Adult neuronal ceroid lipofuscinosis</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li> </ul> </div> </section> <section> <div class="mp-content"> <h2>Patient Support and Advocacy Resources</h2> <ul> <li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li> </ul> </div> </section> <section> <div class="mp-content"> <h2>Clinical Trials</h2> <ul> <li><a href="https://clinicaltrials.gov/search?cond=%22CLN4 disease%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li> </ul> </div> </section> <section> <div class="mp-content"> <h2>Catalog of Genes and Diseases from OMIM</h2> <ul> <li><a href="https://omim.org/entry/162350" target="TheNewWin">CEROID LIPOFUSCINOSIS, NEURONAL, 4 (KUFS TYPE); CLN4</a></li> </ul> </div> </section> <section> <div class="mp-content"> <h2>Scientific Articles on PubMed</h2> <ul> <li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28kufs+disease%5BTIAB%5D%29+OR+%28adult+neuronal+ceroid+lipofuscinosis%5BTIAB%5D%29+OR+%28CLN4+disease%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li> </ul> </div> </section> </div> <div class="mp-exp exp-full" data-bookmark="references"> <h2>References</h2> <section> <div class="mp-content"> <ul> <li>Cadieux-Dion M, Andermann E, Lachance-Touchette P, Ansorge O, Meloche C, Barnabe A, Kuzniecky RI, Andermann F, Faught E, Leonberg S, Damiano JA, Berkovic SF, Rouleau GA, Cossette P. Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. Clin Genet. 2013 Jun;83(6):571-5. doi: 10.1111/cge.12020. Epub 2012 Nov 7. <a href="https://pubmed.ncbi.nlm.nih.gov/22978711" target="TheNewWin">Citation on PubMed</a></li> <li>Henderson MX, Wirak GS, Zhang YQ, Dai F, Ginsberg SD, Dolzhanskaya N, Staropoli JF, Nijssen PC, Lam TT, Roth AF, Davis NG, Dawson G, Velinov M, Chandra SS. Neuronal ceroid lipofuscinosis with DNAJC5/CSPalpha mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. Acta Neuropathol. 2016 Apr;131(4):621-37. doi: 10.1007/s00401-015-1512-2. Epub 2015 Dec 10. <a href="https://pubmed.ncbi.nlm.nih.gov/26659577" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4791186/" target="TheNewWin">Free article on PubMed Central</a></li> <li>Kollmann K, Uusi-Rauva K, Scifo E, Tyynela J, Jalanko A, Braulke T. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta. 2013 Nov;1832(11):1866-81. doi: 10.1016/j.bbadis.2013.01.019. Epub 2013 Feb 9. <a href="https://pubmed.ncbi.nlm.nih.gov/23402926" target="TheNewWin">Citation on PubMed</a></li> <li>Schulz A, Kohlschutter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17. <a href="https://pubmed.ncbi.nlm.nih.gov/23602993" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4631127/" target="TheNewWin">Free article on PubMed Central</a></li> <li>Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grotzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7. <a href="https://pubmed.ncbi.nlm.nih.gov/23297359" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3596852/" target="TheNewWin">Free article on PubMed Central</a></li> <li>Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Zuchner S. Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. PLoS One. 2012;7(1):e29729. doi: 10.1371/journal.pone.0029729. Epub 2012 Jan 3. Erratum In: PLoS One. 2012;7(9). doi:10.1371/annotation/26d7eb64-ccd2-41db-b1aa-7cdc8c1eff95. <a href="https://pubmed.ncbi.nlm.nih.gov/22235333" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3250487/" target="TheNewWin">Free article on PubMed Central</a></li> <li>Williams RE, Mole SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. doi: 10.1212/WNL.0b013e31825f0547. <a href="https://pubmed.ncbi.nlm.nih.gov/22778232" target="TheNewWin">Citation on PubMed</a></li> </ul> </div> </section> </div> </div> <div class="side"> <aside> <section><div class="side-section"> <div class="mp-img"> <a class="image-modal" id="14255_featured" href="https://medlineplus.gov/images/PX0001ZR_PRESENTATION.jpeg" data-filepath="images/PX0001ZR_PRESENTATION.jpeg" data-title="Parts of the brain, internal" data-caption="Anatomy of the inside of the brain, showing the pineal and pituitary glands, optic nerve, ventricles (with cerebrospinal fluid shown in blue), and other parts of the brain." data-credit="漏 2010 Terese Winslow LLC for the National Cancer Institute" data-alt="Anatomy of the inside of the brain, showing the pineal and pituitary glands, optic nerve, ventricles (with cerebrospinal fluid shown in blue), and other parts of the brain." data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9118"> <img class="scale-with-grid" src="https://medlineplus.gov/images/PX0001ZR_PRESENTATION.jpeg" alt="" title="Parts of the brain, internal"> <span class="view-img-full-size" title="Show image">Enlarge image</span> </a> </div> </div></section> <section><div class="side-section"> </div></section> <section><div class="side-section"> <div class="section-header"> <h2>Related Health Topics</h2> </div> <div class="section-body"> <ul class="relatedmp"> <li><a href="https://medlineplus.gov/degenerativenervediseases.html">Degenerative Nerve Diseases</a></li> <li><a href="https://medlineplus.gov/dementia.html">Dementia</a></li> <li><a href="https://medlineplus.gov/epilepsy.html">Epilepsy</a></li> <li><a href="https://medlineplus.gov/geneticdisorders.html">Genetic Disorders</a></li> </ul> </div> </div></section> <section><div class="side-section"> <div class="section-header red"> <h2>MEDICAL ENCYCLOPEDIA</h2> </div> <div class="section-body" id="more_encyclopedia"> <ul class="relatedmp" style="list-style: none; padding: 0;"> <li><a href="https://medlineplus.gov/ency/article/002048.htm">Genetics</a></li> <li><a href="https://medlineplus.gov/ency/article/003198.htm">Movement - uncoordinated</a></li> <li><a href="https://medlineplus.gov/ency/article/001613.htm">Neuronal ceroid lipofuscinoses (NCL)</a></li> </ul> </div> </div></section> <section><div class="side-section"> <div class="section-header"> <h2>Understanding Genetics</h2> </div> <div class="section-body"> <ul class="relatedmp"> <li><a href="https://medlineplus.gov/genetics/understanding/consult/prognosis/">What is the prognosis of a genetic condition?</a></li> <li><a href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/mutationscausedisease/">How can gene variants affect health and development?</a></li> <li><a href="https://medlineplus.gov/genetics/understanding/inheritance/runsinfamily/">What does it mean if a disorder seems to run in my family?</a></li> <li><a href="https://medlineplus.gov/genetics/understanding/inheritance/inheritancepatterns/">What are the different ways a genetic condition can be inherited?</a></li> <li><a href="https://medlineplus.gov/genetics/understanding/consult/treatment/">How are genetic conditions treated or managed?</a></li> </ul> </div> </div></section> <section><div class="side-section"> <div class="section-header hide-offscreen"> <h2>Disclaimers</h2> </div> <div class="section-body no-header"> MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. 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