{"id":26,"date":"2026-05-07T10:42:32","date_gmt":"2026-05-07T10:42:32","guid":{"rendered":"https:\/\/cln2dsepatient-dev-001-g8fveycna6djd4g5.westus2-01.azurewebsites.net\/en-us\/?page_id=26"},"modified":"2026-09-02T13:17:36","modified_gmt":"2026-09-02T13:17:36","slug":"education","status":"publish","type":"page","link":"https:\/\/cln2.biomarin.com\/en-us\/education\/","title":{"rendered":"Education"},"content":{"rendered":"<div id=\"acf-block-6a3000b6c3c02\" class=\"hero hero-no-overlay\">\n            <div class=\"hero-background-image hero-background-image-desktop\" style=\"background-image: url(https:\/\/cln2.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/hero.jpg?v=0.4);\"><\/div>\n\t    <div class=\"hero-background-image hero-background-image-mobile\" style=\"background-image: url(https:\/\/cln2.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/hero_mobile_2.jpg?v=0.4);\"><\/div>\n    \t<div class=\"overlay\"><\/div>\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"hero-content\">\n\t\t\t    \t\t\t\t\t\t\t\t\t\t\t\t    <h1>What is CLN2 disease?\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t\n                <p class=\"inline-buttons\">\n                                                        <\/p>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n<div id=\"acf-block-6a300a44e66a9\" class=\"block boxed-content block-tight-top block-zero-bottom boxed-content-white\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t\t\t\t\t\n<div id=\"acf-block-6a300a44e6ae8\" class=\"image-text-block content-align-center content-reverse\">\n            <div class=\"image-block large\">\n            <figure>\n                <div class=\"image image-rounded\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/cln2.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/edu-one.png?v=0.4\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>CLN2 is a genetic disease\n<\/h3>\n                            <p class=\"list_before\">CLN2 disease is a rare genetic disorder that affects children.<sup>1,2<\/sup> CLN2 disease is:<\/p>\n<ul class=\"no-left\">\n<li>Named after the <em>CLN2\/TPP1<\/em> gene, which is mutated (abnormal) in CLN2 disease<sup>2<\/sup><\/li>\n<li>One of the most common forms of neuronal ceroid lipofuscinosis (NCL)<sup>3<\/sup>\n<ul class=\"child_list\">\n<li>NCLs are a group of inherited disorders, which are collectively known as Batten disease<sup>4<\/sup><\/li>\n<\/ul>\n<\/li>\n<li>Previously known as late-infantile NCL, meaning that for most children, symptoms begin between the ages of 2 and 4<sup>1<\/sup><\/li>\n<\/ul>\n                    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a300a44e6d34\" class=\"block-wysiwyg\">\n            <h3>CLN2 disease is an inherited disease that is passed down through families<\/h3>\n<p>Children with CLN2 disease are born with this condition, even though it may take months or years before they start showing signs.<sup>2<\/sup><\/p>\n<p>&nbsp;<\/p>\n<h3>CLN2 disease is referred to as an autosomal recessive disorder<sup>2<\/sup>:<\/h3>\n<ul class=\"no-left\">\n<li>Everyone has two copies of the <em>CLN2<\/em> gene. In people with CLN2 disease, both inherited genes (one from each parent) have disease-causing variants<sup>2<\/sup><\/li>\n<li>Parents of a child with CLN2 disease have a disease-causing variant in one of their <em>CLN2<\/em> genes<sup>2<\/sup><\/li>\n<li>Parents are <em>carriers<\/em> of the genetic disease-causing variant, which means they are healthy but can pass on the mutation to their children<sup>2<\/sup><\/li>\n<li>If both parents carry the disease-causing variant and have a child, there is a<sup>2<\/sup>\n<ul class=\"child_list\">\n<li>25% chance that the child will inherit both disease-causing variants and be affected by CLN2 disease and experience symptoms<\/li>\n<li>50% chance that the child will be healthy, but they will also carry the one disease-causing variant for CLN2 disease<\/li>\n<li>25% chance that the child will not carry any disease-causing variants for CLN2 disease and will not have CLN2 disease<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p class=\"after_list\">Diagnosis can be confirmed through genetic testing, which looks for a disease-causing variant in a DNA sample collected from the child. CLN2 diagnosis can also be confirmed through enzyme testing, which looks for low levels of the TPP1 enzyme.<sup>3<\/sup><\/p>\n    <\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<figure id=\"acf-block-6a300a44e700e\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/cln2.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/divide-2.png?v=0.4\" alt=\"\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-6a300a44e7053\" class=\"block boxed-content block-zero-top block-zero-bottom boxed-content-white\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t\t\t\t\t\n<div id=\"acf-block-6a300a44e707b\" class=\"block-wysiwyg\">\n            <h3>CLN2 disease is a type of lysosomal storage disorder that affects cells in the brain<sup>5<\/sup><\/h3>\n<p class=\"spl_margin\">There are lysosomes inside every cell. Lysosomes contain enzymes that break down and recycle material in the cell. One of these enzymes is called TPP1.<sup>5<\/sup><\/p>\n<p class=\"spl_margin\">The TPP1 enzyme is missing or does not work properly in children with CLN2 disease. When this enzyme isn&#8217;t working correctly, certain materials build up in the lysosomes of cells, particularly cells in the brain and the eyes.<sup>4,6<\/sup><\/p>\n<p>&nbsp;<\/p>\n<h3>CLN2 disease is associated with a buildup of materials inside brain cells<sup>4,6<\/sup><\/h3>\n    <\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6a300a44e7337\" class=\"block wrapped-content block-zero-top block-zero-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<figure id=\"acf-block-6a300a44e7383\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/cln2.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/education-two-img-2.jpg?v=0.4\" alt=\"\" \/>            <\/div>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a300a44e73c3\" class=\"block boxed-content block-zero-top block-zero-bottom boxed-content-white\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t\t\t\t\t\n<div id=\"acf-block-6a300a44e73e5\" class=\"block-wysiwyg\">\n            <p class=\"spl_margin\">Over time, this buildup is associated with damaging the cells in the brain and the eyes, and they stop functioning normally. As this happens, the symptoms of CLN2 disease (for example, language development delay, seizures, visual impairment, and movement disorders or ataxia) appear.<sup>4,6<\/sup><\/p>\n    <\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<figure id=\"acf-block-6a300a44e742c\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/cln2.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/divide-2.png?v=0.4\" alt=\"\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-6a300a44e746a\" class=\"block boxed-content block-zero-top block-zero-bottom boxed-content-white\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t\t\t\t\t\n<div id=\"acf-block-6a300a44e7502\" class=\"image-text-block block-zero-top block-zero-bottom\">\n            <div class=\"image-block medium\">\n            <figure>\n                <div class=\"image image-rounded\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/cln2.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/batten-logo.png?v=0.4\" alt=\"\" \/>                <\/div>\n            <\/figure>\n        <\/div>\n        <div class=\"content-block\">\n                    <h3>The BDSRA is dedicated to funding research for treatments and cures, and providing family support services.\n<\/h3>\n                                                    <p><a class=\"button button-text button-arrow\" href=\"https:\/\/bdsrafoundation.org\/\" target=\"_blank\">Visit the Batten Disease Support and Research Association (BDSRA) to learn more about CLN2 disease<\/a><\/p>\n                        <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<figure id=\"acf-block-6a300a44e754c\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/cln2.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2026\/06\/divide-2.png?v=0.4\" alt=\"\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-6a300a44e7a75\" class=\"block references\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t    \t\t\t    <h4>Key sources:\n<\/h4>\n\t\t\t\t\t\t                <ol>\n                                                                                                                        <li><span>Kohlsch\u00fctter A, Schulz A. CLN2 disease (classic late infantile neuronal ceroid lipofuscinosis). <em>Pediatr Endocrinol Rev.<\/em> 2016;13(Suppl 1):682-688.\n<\/span><\/li>\n                                                                                                                                                <li><span>Malik K, Santucci K, Sremba L, et al. Neuronal Ceroid Lipofuscinoses Overview. Oct. 10, 2001 [Updated May 29, 2025]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132025.\n<\/span><\/li>\n                                                                                                                                                <li><span>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. <em>Mol Genet Metab.<\/em> 2016;119:160-167.\n<\/span><\/li>\n                                                                                                                                                <li><span>Haltia M. The neuronal ceroid-lipofuscinoses: from past to present. <em>Biochim Biophys Acta.<\/em> 2006;1762:850-856.\n<\/span><\/li>\n                                                                                                                                                <li><span>Mole SE, Williams RE, Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. <em>Neurogenetics.<\/em> 2005;6:107-126.\n<\/span><\/li>\n                                                                                                                                                <li><span>Schulz A, Kohlsch\u00fctter A, Mink J, Simonati A, Williams R. NCL diseases\u2013clinical perspectives. <em>Biochim Biophys Acta.<\/em> 2013;1832:1801-1806.\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":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-26","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>BioMarin | CLN2 Family | Education<\/title>\n<meta name=\"description\" content=\"Find out more about CLN2 disease, a rare genetic disorder that affects children.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link 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