{"id":38,"date":"2026-05-07T10:45:32","date_gmt":"2026-05-07T10:45:32","guid":{"rendered":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/?page_id=38"},"modified":"2026-09-15T13:48:32","modified_gmt":"2026-09-15T13:48:32","slug":"ncl-disorders","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/overview\/ncl-disorders\/","title":{"rendered":"NCL Disorders"},"content":{"rendered":"
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\n\t\t\t\t\t\t\t\t Overview<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t

NCL Disorders\n<\/h1>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n
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CLN2 disease is one of the most common forms of NCL, also known as Batten disease1,2<\/sup><\/h2>\n

There are 14 known types of neuronal ceroid lipofuscinosis (NCL)3<\/sup><\/h4>\n

NCLs are a group of disorders that are the leading cause of dementia in children and adolescents.3<\/sup><\/span><\/strong><\/p>\n\n\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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Classification and characteristics of NCLs4-6<\/sup><\/h4>\n\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n
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*Known NCL diseases. Additional NCL genes remain to be identified.
\n\u2020SCAR7 is caused by TPP1 deficiency and may be a milder form of CLN2.<\/p>\n<\/figcaption>\n <\/figure>\n <\/div>\n <\/div>\n<\/div>\n\n

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CLN2 and CLN3 are the most common forms of NCL worldwide.1<\/sup><\/p>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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NCLs share a host of etiological and clinical characteristics3<\/sup><\/h4>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n
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  • Severe and progressive neurodegeneration1<\/sup><\/li>\n
  • Debilitating triad of symptoms\u2014seizures, dementia, and vision loss3<\/sup><\/li>\n
  • Neuronal and retinal accumulation of ceroid lipofuscin7<\/sup>\n
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    • NCLs feature distinct inclusion bodies, including granular, curvilinear, and fingerprint profiles<\/li>\n
    • In CLN2, the distinct curvilinear structure of ceroid lipofuscin is evident under microscopy<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n <\/div>\n \n
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      References:\n<\/h4>\n\t\t\t\t\t\t
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      1. Malik K, Santucci K, Sremba L, et al. Neuronal Ceroid Lipofuscinoses Overview. 2001 Oct 10 [Updated 2025 May 29]. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026.\n<\/span><\/li>\n
      2. Haltia M. The neuronal ceroid-lipofuscinoses: from past to present. Biochimica et Biophysica Acta<\/em>. 2006;1762:850-856.\n<\/span><\/li>\n
      3. Schulz A, Kohlsch\u00fctter A, Mink J, Simonati A, Williams R. NCL diseases \u2013 clinical perspectives. Biochimica et Biophysica Acta<\/em>. 2013;1832:1801-1806.\n<\/span><\/li>\n
      4. Williams RE, Mole SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology<\/em>. 2012;79:183-191.\n<\/span><\/li>\n
      5. Kousi M, Lehesjoki A-\u00adE, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat<\/em>. 2012;33:42-\u00ad63.\n<\/span><\/li>\n
      6. Fietz M, AlSayed M, Burke D, et al. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Mol Genet Metab.<\/em> 2016 Sep;119(1-2):160-7. doi: 10.1016\/j.ymgme.2016.07.011.\n<\/span><\/li>\n
      7. Mole SE, Williams RE, and Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics<\/em>. 2005;6:107-126.\n<\/span><\/li>\n <\/ol>\n\t\t\t\t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":2,"featured_media":0,"parent":36,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-38","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nCLN2 Connections | NCL Disorders | HCP BioMarin<\/title>\n<meta name=\"description\" content=\"Learn about neuronal ceroid lipofuscinoses (NCLs), including CLN2 disease, their classification, characteristics, and shared clinical features.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/overview\/ncl-disorders\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" 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