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7","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"OMIM:610951","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f59022cd11059fb4a5b8cf7ce61d02aa3ad47cb92c57c7c0971995029e30e434","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610003","disease_name":"Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000737","is_excluded":false,"label":"Irritability","onset_id":null,"reference":"OMIM:610003","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f5aab3a10f86a1ca51b2a0d8a76493cc92c6f0466feeb1a64d6f19d107179598","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:601780","disease_name":"Ceroid lipofuscinosis, neuronal, 6","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001311","is_excluded":false,"label":"Abnormal nervous system 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1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"OMIM:256730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f83eeecc56c13e6551e9885976350f9c30e59147ac8a0f8be9cab62e9eb0b1fb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610951","disease_name":"Ceroid lipofuscinosis, neuronal, 7","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002059","is_excluded":false,"label":"Cerebral atrophy","onset_id":null,"reference":"OMIM:610951","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fa60c37b0edd3871ed6e678da4b8befc2330c1581b71054670474c8a0d81153d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:256730","disease_name":"Ceroid lipofuscinosis, neuronal, 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accumulation of autofluorescent lipopigment storage material","onset_id":null,"reference":"OMIM:162350","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fc64b50a71640194e8c7d46c1aa1688a36437d06c737f04385080e9ea79bf9a5","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:204200","disease_name":"Ceroid lipofuscinosis, neuronal, 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000618","is_excluded":false,"label":"Blindness","onset_id":null,"reference":"OMIM:204200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"fc8c443040a36cde34a17a0ee281c400e036ede1ca6367ad96ff2b9632dc2d19","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614706","disease_name":"Ceroid lipofuscinosis, neuronal, 11","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"PMID:22608501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fd339260da91cd1e25b2a9e8b144a008361fae3e612ea3bfa69adb1e1578d354","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610127","disease_name":"Ceroid lipofuscinosis, neuronal, 10","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0000510","is_excluded":false,"label":"Rod-cone dystrophy","onset_id":null,"reference":"PMID:25298308","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fdf4ef5a15b517687a733e6009f47a93e5d6823ffb14e432a28315fc8d8c0c92","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:611726","disease_name":"Epilepsy, progressive myoclonic 3, with or without intracellular inclusions","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:22748208","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"ff1582b598cae93a3576f3723d37372b67b7238d4c38c6ba90cdec0b05212893","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:256730","disease_name":"Ceroid lipofuscinosis, neuronal, 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000716","is_excluded":false,"label":"Depression","onset_id":null,"reference":"OMIM:256730","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ff2bea6f3b1b36f7b7f480043157a0d3507648e80cdac252872442e3def757d7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610127","disease_name":"Ceroid lipofuscinosis, neuronal, 10","evidence":"PCS","frequency_raw":"6/6","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"PMID:25298308;PMID:16685649","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{"PMID:7637805":"Vesa 1995","PMID:9535296":"Wisniewski 1998"},"references":{"causeHtml":"<ol class=\"sources-list\"><li><a href=\"https://medlineplus.gov/genetics/condition/cln1-disease/\" rel=\"noreferrer\">MedlinePlus Genetics: CLN1 disease</a>.</li><li><a href=\"https://medlineplus.gov/genetics/condition/cln2-disease/\" rel=\"noreferrer\">MedlinePlus Genetics: CLN2 disease</a>.</li><li><a href=\"https://medlineplus.gov/genetics/condition/cln3-disease/\" rel=\"noreferrer\">MedlinePlus Genetics: CLN3 disease</a>.</li><li><a href=\"https://medlineplus.gov/genetics/condition/cln4-disease/\" rel=\"noreferrer\">MedlinePlus Genetics: CLN4 disease</a>.</li><li><a href=\"https://medlineplus.gov/genetics/condition/cln5-disease/\" rel=\"noreferrer\">MedlinePlus Genetics: CLN5 disease</a>.</li><li><a href=\"https://medlineplus.gov/genetics/condition/cln6-disease/\" rel=\"noreferrer\">MedlinePlus Genetics: CLN6 disease</a>.</li><li><a href=\"https://medlineplus.gov/genetics/condition/cln7-disease/\" rel=\"noreferrer\">MedlinePlus Genetics: CLN7 disease</a>.</li><li><a href=\"https://medlineplus.gov/genetics/condition/cln8-disease/\" rel=\"noreferrer\">MedlinePlus Genetics: CLN8 disease</a>.</li><li><a href=\"https://medlineplus.gov/genetics/condition/cln10-disease/\" rel=\"noreferrer\">MedlinePlus Genetics: CLN10 disease</a>.</li><li><a href=\"https://medlineplus.gov/genetics/condition/cln11-disease/\" rel=\"noreferrer\">MedlinePlus Genetics: CLN11 disease</a>.</li><li><a href=\"https://medlineplus.gov/genetics/gene/cln3/\" rel=\"noreferrer\">MedlinePlus Genetics: CLN3 gene</a>.</li></ol>","identityNote":"CLN6 and CLN8 retain their separate mapped entries. KCTD7 evidence uses the broader progressive myoclonic epilepsy concept and is not presented as CLN14-only frequency data.","importantHtml":"<ol class=\"sources-list\"><li><a href=\"https://www.ncbi.nlm.nih.gov/books/NBK1428/\" rel=\"noreferrer\">GeneReviews: NCL overview, May 29, 2025</a>.</li><li><a href=\"https://www.ncbi.nlm.nih.gov/books/NBK624593/\" rel=\"noreferrer\">GeneReviews: CLN3-related disorder, September 3, 2026</a>.</li></ol>"},"sections":[{"bodyHtml":"<p class=\"answer\">Different genes can disrupt how cells handle and recycle materials. The forms below have separate MedlinePlus Genetics explanations.</p><div class=\"table-scroll\"><table class=\"cln-classification\"><thead><tr><th scope=\"col\">Form</th><th scope=\"col\">Gene</th><th scope=\"col\">Typical pattern described</th></tr></thead><tbody><tr><th scope=\"row\"><a href=\"https://medlineplus.gov/genetics/condition/cln1-disease/\" rel=\"noreferrer\">CLN1</a></th><td><i>PPT1</i></td><td>Usually infancy; later presentations also occur.</td></tr><tr><th scope=\"row\"><a href=\"https://medlineplus.gov/genetics/condition/cln2-disease/\" rel=\"noreferrer\">CLN2</a></th><td><i>TPP1</i></td><td>Usually early childhood; later and milder presentations occur.</td></tr><tr><th scope=\"row\"><a href=\"https://medlineplus.gov/genetics/condition/cln3-disease/\" rel=\"noreferrer\">CLN3</a></th><td><i>CLN3</i></td><td>Vision problems often begin in childhood.</td></tr><tr><th scope=\"row\"><a href=\"https://medlineplus.gov/genetics/condition/cln4-disease/\" rel=\"noreferrer\">CLN4</a></th><td><i>DNAJC5</i></td><td>Usually adulthood; dominant inheritance.</td></tr><tr><th scope=\"row\"><a href=\"https://medlineplus.gov/genetics/condition/cln5-disease/\" rel=\"noreferrer\">CLN5</a></th><td><i>CLN5</i></td><td>Often around age 5; childhood to early-adult onset reported.</td></tr><tr><th scope=\"row\"><a href=\"https://medlineplus.gov/genetics/condition/cln6-disease/\" rel=\"noreferrer\">CLN6</a></th><td><i>CLN6</i></td><td>Childhood or adulthood; adult forms often lack vision loss.</td></tr><tr><th scope=\"row\"><a href=\"https://medlineplus.gov/genetics/condition/cln7-disease/\" rel=\"noreferrer\">CLN7</a></th><td><i>MFSD8</i></td><td>Usually early childhood.</td></tr><tr><th scope=\"row\"><a href=\"https://medlineplus.gov/genetics/condition/cln8-disease/\" rel=\"noreferrer\">CLN8</a></th><td><i>CLN8</i></td><td>Childhood; Northern epilepsy and more severe presentations.</td></tr><tr><th scope=\"row\"><a href=\"https://medlineplus.gov/genetics/condition/cln10-disease/\" rel=\"noreferrer\">CLN10</a></th><td><i>CTSD</i></td><td>Often around birth; later-onset presentations also occur.</td></tr><tr><th scope=\"row\"><a href=\"https://medlineplus.gov/genetics/condition/cln11-disease/\" rel=\"noreferrer\">CLN11</a></th><td><i>GRN</i></td><td>Usually adolescence or early adulthood.</td></tr></tbody></table></div><p>Most of these forms involve both copies of one gene. CLN4 is a dominant exception. A gene can also be associated with different presentations: the CLN3 gene page describes retinal degeneration without the usual broader neurologic picture.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/cln2-disease/\" rel=\"noreferrer\">MedlinePlus Genetics, form-specific pages</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/gene/cln3/\" rel=\"noreferrer\">MedlinePlus: CLN3 gene and isolated retinal degeneration</a></p>","key":"forms","title":"What do the CLN number and gene tell us?"},{"bodyHtml":"<p class=\"answer\">The broad description and feature table do not capture every genetic or age-related difference.</p><ul class=\"bullet-list\"><li><strong>Vision loss is not universal.</strong> CLN4 typically spares the retina. MedlinePlus also describes adult CLN6 presentations without vision loss.</li><li><strong>CLN3 can have a slower neurologic course.</strong> In protracted CLN3, vision loss may still start early. The newer CLN3 chapter notes a rare neurologic finding in a reported retinal-predominant case, so “isolated” is not an absolute guarantee.</li><li><strong>Some rarer forms need other sources.</strong> The family overview also describes CTSF-related CLN13 and KCTD7-linked CLN14. The boundary between CLN14 and other KCTD7-related disease remains uncertain.</li></ul><p class=\"section-source\"><a href=\"https://www.ncbi.nlm.nih.gov/books/NBK1428/\" rel=\"noreferrer\">GeneReviews, NCL overview</a> · <a href=\"https://www.ncbi.nlm.nih.gov/books/NBK624593/\" rel=\"noreferrer\">GeneReviews, CLN3-related disorder</a></p>","key":"important","title":"Important differences"}],"sharedSources":[],"slug":"cln","sourceDocuments":[{"name":"CLN1 disease","reviewed":"2016-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:19.969369+00:00","label":"Causes","pageSha256":"d21024fbe37d32f6c13aaff003c5f019443fd8f4841a46a43158515c4ea11dd4","sourceUrl":"https://medlineplus.gov/genetics/condition/cln1-disease/#causes","status":"available","text":"Mutations in the PPT1 gene cause CLN1 disease. The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is active in cell compartments called lysosomes, which digest and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes fats called long-chain fatty acids from certain proteins, which helps to break down the proteins. Palmitoyl-protein thioesterase 1 is also thought to be involved in a variety of other cell functions.\n\nPPT1 gene mutations that cause CLN1 disease decrease or eliminate the production or function of palmitoyl-protein thioesterase 1. A reduction of functional enzyme impairs the removal of fatty acids from certain proteins. These partially broken down fats and proteins accumulate in lysosomes. While accumulation of these substances occurs in cells throughout the body, nerve cells appear to be particularly vulnerable to damage caused by the abnormal cell materials. Early and widespread loss of nerve cells in CLN1 disease leads to severe signs and symptoms and death in childhood.\n\nIn the later-onset cases of CLN1 disease, PPT1 gene mutations result in the production of a palmitoyl-protein thioesterase 1 enzyme that has a reduced level of normal function; however, protein function in these individuals is higher than in those who have the condition beginning in early childhood. As a result, long-chain fatty acids are removed from some proteins, allowing for a small amount of proteins to be broken down. Since it takes longer for these substances to accumulate in lysosomes and cause nerve cell death, the signs and symptoms of CLN1 disease in these individuals occur later in life."}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cln1-disease"},{"name":"CLN10 disease","reviewed":"2016-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:20.479860+00:00","label":"Causes","pageSha256":"c5ae483c82d46fd3b8b244f3eb2072e0ea5118c574dff556933bd0b95da155f3","sourceUrl":"https://medlineplus.gov/genetics/condition/cln10-disease/#causes","status":"available","text":"Mutations in the CTSD gene cause CLN10 disease. The CTSD gene provides instructions for making an enzyme called cathepsin D. Cathepsin D is one of a family of cathepsin proteins that act as protease enzymes, which modify proteins by cutting them apart. Cathepsin D is found in many types of cells and is active in lysosomes, which are compartments within cells that digest and recycle different types of molecules. By cutting proteins apart, cathepsin D can break down certain proteins, turn on (activate) other proteins, and regulate self-destruction of the cell (apoptosis).\n\nCTSD gene mutations found to cause CLN10 disease that is present at birth lead to a complete lack of cathepsin D enzyme activity. As a result, proteins and fats are not broken down properly and abnormally accumulate within lysosomes. While accumulations of these substances occurs in cells throughout the body, nerve cells appear to be particularly vulnerable to damage caused by the abnormal cell materials. Early and widespread loss of nerve cells in CLN10 disease leads to severe signs and symptoms and death in infancy.\n\nIn the later-onset cases of CLN10 disease, CTSD gene mutations likely result in the production of a cathepsin D enzyme whose function is greatly reduced but not eliminated. As a result, some proteins and fats are broken down by the enzyme, so it takes longer for these substances to accumulate in lysosomes and cause nerve cell death."}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cln10-disease"},{"name":"CLN11 disease","reviewed":"2020-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:20.604962+00:00","label":"Causes","pageSha256":"cbcfe084828baf947e672a9ab263a2fa4acede1a53c7569be9c3608f74b69a47","sourceUrl":"https://medlineplus.gov/genetics/condition/cln11-disease/#causes","status":"available","text":"CLN11 disease results from mutations in the GRN gene. This gene provides instructions for making a protein called progranulin. Progranulin is active in many different tissues in the body, where it helps control the growth, division, and survival of cells. Progranulin's function in the brain is not well understood, although it appears to play an important role in the survival of nerve cells (neurons).\n\nGRN gene mutations that cause CLN11 disease result in a complete loss of functional progranulin protein. This lack of progranulin causes the death of nerve cells in the brain, although the exact mechanism is unknown. Widespread loss of neurons in CLN11 disease leads to the development of signs and symptoms in adolescence or early adulthood."}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cln11-disease"},{"name":"CLN2 disease","reviewed":"2016-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:21.004462+00:00","label":"Causes","pageSha256":"af146b00c7d032e456438d2c4f0299224d0fdbc465f6567798cc3ae2f69ebcf1","sourceUrl":"https://medlineplus.gov/genetics/condition/cln2-disease/#causes","status":"available","text":"Mutations in the TPP1 gene cause CLN2 disease. The TPP1 gene provides instructions for producing an enzyme called tripeptidyl peptidase 1. This enzyme is found in cell structures called lysosomes, which digest and recycle different types of molecules. Tripeptidyl peptidase 1 breaks down protein fragments, known as peptides, into their individual building blocks (amino acids).\n\nMutations in the TPP1 gene greatly reduce or eliminate the production or activity of the tripeptidyl peptidase 1 enzyme. A reduction in functional enzyme results in the incomplete breakdown of certain peptides. CLN2 disease, like other NCLs, is characterized by the accumulation of proteins or peptides and other substances in lysosomes. 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 leads to the signs and symptoms of CLN2 disease.\n\nIndividuals who are diagnosed with CLN2 disease later in childhood likely have TPP1 gene mutations that result in the production of an enzyme with a small amount of normal function. Protein function in these individuals is higher than in those who have the condition beginning earlier in childhood. As a result, it takes longer for peptides and other substances to accumulate in the lysosomes and damage nerve cells."}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cln2-disease"},{"name":"CLN3 disease","reviewed":"2020-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:21.302471+00:00","label":"Causes","pageSha256":"3c809cebf40049c30ea4ee177a788b1f70b0102a053fdac027e0b40056f31d1f","sourceUrl":"https://medlineplus.gov/genetics/condition/cln3-disease/#causes","status":"available","text":"CLN3 disease is caused by mutations in the CLN3 gene, which provides instructions for making a protein that is found in tissues throughout the body. The CLN3 protein is part of many compartments within cells, including lysosomes, which are cellular compartments that digest and recycle different types of molecules. However, the exact function of the CLN3 protein is unclear. Research has shown that this protein is involved in many cellular processes, but it is uncertain which of them is the primary role of the protein, or if these processes instead represent downstream effects.\n\nIt is unclear how mutations in the CLN3 gene lead to the characteristic features of CLN3 disease. One CLN3 gene mutation, found in the vast majority of cases, leads to the production of an abnormally short protein. As a result, the abnormal CLN3 protein is broken down or may interfere with normal cellular processes. Other mutations reduce the amount of normal protein or impair its function. It is not known how loss of this protein causes the signs and symptoms of CLN3 disease.\n\nCLN3 disease, like other NCLs, is characterized by the accumulation of proteins and other substances in lysosomes. 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 leads to the neurological signs and symptoms of CLN3 disease. However, it is unclear how mutations in the CLN3 gene are involved in the buildup of substances in lysosomes."}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cln3-disease"},{"name":"CLN4 disease","reviewed":"2017-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:21.619269+00:00","label":"Causes","pageSha256":"a73e6d65966bf27c58c400ecf6147d4e0631a919ab9d58a17e63fb3800505181","sourceUrl":"https://medlineplus.gov/genetics/condition/cln4-disease/#causes","status":"available","text":"Mutations in the DNAJC5 gene cause CLN4 disease. The DNAJC5 gene provides instructions for making a protein called cysteine string protein alpha (CSPα). This protein is found in the brain, where it plays a role in the transmission of nerve impulses, helping nerve cells communicate with each other. Specifically, CSPα 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.\n\nDNAJC5 gene mutations lead to the production of an altered CSPα 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.\n\nCLN4 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 DNAJC5 gene are involved in the buildup of substances in lysosomes."}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cln4-disease"},{"name":"CLN5 disease","reviewed":"2016-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:21.961728+00:00","label":"Causes","pageSha256":"e578a67a2f5b7fc8e4861af5aa15cb50d7ea1ec5061ea71ad4aea60e2f55c6e8","sourceUrl":"https://medlineplus.gov/genetics/condition/cln5-disease/#causes","status":"available","text":"CLN5 disease is caused by mutations in the CLN5 gene, which provides instructions for making a protein whose function is not well understood. After the CLN5 protein is produced, it is transported to cell compartments called lysosomes, which digest and recycle different types of molecules. Research suggests that the CLN5 protein may play a role in the process by which lysosomes break down or recycle damaged or unneeded proteins within the cell.\n\nMost of the CLN5 gene mutations alter the structure of the protein so that it cannot get to the lysosomes where it is needed. A lack of functional protein within lysosomes probably impairs the breakdown of certain proteins, which then likely accumulate in cells throughout the body. While these accumulations can damage any cells, nerve cells appear to be particularly vulnerable. Widespread loss of nerve cells in CLN5 disease leads to severe signs and symptoms and early death.\n\nIn the cases in which CLN5 disease develops in adolescence or adulthood, it is thought that the CLN5 gene mutations lead to a CLN5 protein with reduced function that is broken down earlier than normal. Because the altered CLN5 protein can function for a small amount of time, some damaged or unneeded proteins may be broken down in lysosomes. Since it takes longer for these substances to accumulate and cause nerve cell death, the signs and symptoms of CLN5 disease in these individuals occur later in life."}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cln5-disease"},{"name":"CLN6 disease","reviewed":"2017-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:22.306286+00:00","label":"Causes","pageSha256":"105ccf1fbd6489969e31dc8c4bb82056fed5856fc356711c2986401c61f01ca9","sourceUrl":"https://medlineplus.gov/genetics/condition/cln6-disease/#causes","status":"available","text":"Mutations in the CLN6 gene cause CLN6 disease. The CLN6 gene provides instructions for making a protein whose function is not well understood. Within cells, the CLN6 protein is found in a structure called the endoplasmic reticulum, which is involved in protein processing and transport. Research suggests that the CLN6 protein helps cells get rid of materials they no longer need.\n\nMost CLN6 gene mutations result in the production of an abnormal CLN6 protein that is quickly broken down (degraded). As a result, there is a severe reduction in the amount of functional CLN6 protein in cells. While it is not known how the loss of this protein causes the signs and symptoms of CLN6 disease, it is likely that the protein's quick degradation contributes to the childhood onset of CLN6 disease.\n\nIn the cases in which CLN6 disease develops in adulthood, CLN6 gene mutations often result in a CLN6 protein with reduced function. Research suggests that these CLN6 gene mutations allow enough functional protein to be produced so that signs and symptoms of the disorder do not develop until later in life.\n\nCLN6 disease, like other NCLs, is characterized by the accumulation of proteins and other substances in lysosomes, which are cell structures that digest and recycle different types of molecules. 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 leads to the signs and symptoms of CLN6 disease. However, it is unclear how mutations in the CLN6 gene are involved in the buildup of substances in lysosomes in CLN6 disease. These accumulations occur in more cells throughout the body in children with CLN6 disease than in affected adults."}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cln6-disease"},{"name":"CLN7 disease","reviewed":"2016-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:22.626461+00:00","label":"Causes","pageSha256":"3d64627199d777fe1d8c05f1caa3d1794932222eefda8d61bd7fde46037254dc","sourceUrl":"https://medlineplus.gov/genetics/condition/cln7-disease/#causes","status":"available","text":"Mutations in the MFSD8 gene cause CLN7 disease. The MFSD8 gene provides instructions for making a protein whose function is unknown. The MFSD8 protein is embedded in the membrane of cell compartments called lysosomes, which digest and recycle different types of molecules. Based on the structure of the protein, MFSD8 probably transports molecules across the lysosomal membrane, but the specific molecules it moves have not been identified.\n\nMFSD8 gene mutations likely lead to the production of a protein with altered structure or function. It is unclear how an altered MFSD8 protein leads to the severe neurological features of CLN7 disease. CLN7 disease, like other NCLs, is characterized by the accumulation of proteins and other substances in lysosomes. These accumulations occur in cells throughout the body; however, nerve cells seem to be particularly vulnerable to their effects. These accumulations can cause cell damage leading to cell death. Individuals with CLN7 disease have gradual nerve cell loss in certain parts of the brain, which likely leads to the signs and symptoms of this condition."}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cln7-disease"},{"name":"CLN8 disease","reviewed":"2016-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:22.981077+00:00","label":"Causes","pageSha256":"d435d51c858dc041960f635956c1188e5a4f16e10c87fa009bac1eb798b3420d","sourceUrl":"https://medlineplus.gov/genetics/condition/cln8-disease/#causes","status":"available","text":"Mutations in the CLN8 gene cause CLN8 disease. The CLN8 gene provides instructions for making a protein whose function is not well understood. The CLN8 protein is thought to play a role in moving materials in and out of a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport to different parts of the cell. The CLN8 protein may also play a role in helping the endoplasmic reticulum regulate levels of fats (lipids) in cells. In certain cells, including nerve cells, the CLN8 protein is thought to be active outside of the endoplasmic reticulum, but its function is unknown.\n\nA specific mutation in the CLN8 gene is found in all individuals in northern Finland with the less-severe form of CLN8 disease. This mutation probably leads to production of a protein with reduced function. Because there is likely still some normal function of the CLN8 protein, features of this form are less severe compared to other cases of CLN8 disease. Affected individuals have a reduction in the levels of certain lipids in the brain, likely due to a decrease in CLN8 protein activity, but the effect of this reduction is unclear. Individuals with this form of CLN8 disease have mild brain abnormalities resulting from nerve cell death in the brain, but the cause of the cell death is unknown. Unlike other forms of NCL that result in the accumulation of proteins and other substances in cells, contributing to cell death, the less-severe form of CLN8 disease is associated with very little buildup in cells.\n\nSome CLN8 gene mutations are thought to drastically reduce the function of the CLN8 protein. Other mutations likely impair transport of the protein to the endoplasmic reticulum, so that it cannot perform its function. It is unclear how a loss or reduction of CLN8 protein leads to the signs and symptoms of CLN8 disease. Unlike the less-severe form, in the more-severe form of CLN8 disease, proteins and other substances accumulate in cell structures called lysosomes. While accumulations of these substances occur in cells throughout the body, nerve cells appear to be particularly vulnerable to damage caused by the abnormal cell materials; however, it is unclear how mutations in the CLN8 gene are involved in this buildup. Widespread loss of nerve cells in CLN8 disease leads to the neurological signs and symptoms and, in the case of the more-severe form, early death."}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cln8-disease"},{"name":"CLN3 lysosomal/endosomal transmembrane protein, battenin","reviewed":"2020-02","source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/gene/cln3"}],"sourceNote":"MedlinePlus Genetics: form-specific reviews, 2016–2020","takeawayHtml":"<strong>In brief:</strong> CLN2 is one form within the CLN family. A CLN number names a genetic form, not a stage or a severity ranking.","title":"CLN / Batten disease"},"schemaVersion":1}