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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the ATXN2 gene cause SCA2. The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm), where it appears to interact with a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Researchers believe that ataxin-2 may be involved in processing RNA, a chemical cousin of DNA. Ataxin-2 is also thought to play a role in the production of proteins from RNA (translation of DNA&#x27;s genetic information).</p><p>The ATXN2 gene mutations that cause SCA2 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated approximately 22 times within the gene, but it can be repeated up to 31 times without causing any health problems. Individuals with 33 or more CAG repeats in the ATXN2 gene develop signs and symptoms of SCA2. People with 33 to 34 repeats tend to first experience signs and symptoms of SCA2 in late adulthood, while people with more than 45 repeats usually have signs and symptoms by their teens. Most people with SCA2 have between 37 and 39 CAG repeats in the ATXN2 gene.</p><p>It is unclear how the abnormally long CAG segment affects the function of the ataxin-2 protein. The abnormal protein apparently leads to cell death, as people with SCA2 show loss of brain cells in different parts of the brain. Over time, the loss of brain cells causes the movement problems characteristic of SCA2.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-2/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Spinocerebellar ataxia type 2?"},{"bodyHtml":"<p>Over time, individuals with SCA2 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle wasting (atrophy), uncontrolled muscle tensing (dystonia), and involuntary jerking movements (chorea). Some people with SCA2 develop a group of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). Individuals with SCA2 may have problems with short term memory, planning, and problem solving, or experience an overall decline in intellectual function (dementia).</p><p>Signs and symptoms of the disorder typically begin in mid-adulthood but can appear anytime from childhood to late adulthood. People with SCA2 usually survive 10 to 20 years after symptoms first appear.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-2\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"spinocerebellar-ataxia-type-2","sourceDocuments":[{"name":"Spinocerebellar ataxia type 2","reviewed":"2011-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:11.703844+00:00","label":"Causes","pageSha256":"1f9f4e0bff1ccfd0f68daf54f60985741231f3b52951b385ac4d00d62c1eba44","sourceUrl":"https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-2/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-2"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Spinocerebellar ataxia type 2"},"schemaVersion":1}