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Ataxia TypeGeneWhen the gene was discovered
Genetic Testing
Key Symptoms (Main 3)Estimated % of Genetic Ataxia CasesEstimated Global CasesAvg. Age Of Onset
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ADCA Type 1 (CECBA)CAMTA12000Multi-Gene PanelAtaxia, Mild Intellectual Disability, Behavioral AbnormalitiesRareRareEarly childhood
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ADCA-DNDNMT1 1994Multi-Gene PanelCerebellar ataxia, Deafness, and NarcolepsyRareRare30–40 years
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AOA1APTX1996Multi-Gene PanelAtaxia, oculomotor apraxia, neuropathyRareFew hundred–thousandMean: 4.3 years; Range: 2–10 years
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AOA2SETX2004Multi-Gene PanelTremor, neuropathy, cerebellar atrophyRareFew hundred–thousandBetween 3 and 30 years
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ARCAMultiple1990Multi-Gene PanelProgressive gait, peripheral neuropathy, dysarthriaRareTens of thousandsTypically before 40 years
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ARSACSSACS1978Multi-Gene PanelSpasticity, ataxia, retinal changesRareRareMean: ~6 years; Range: 0–40 years
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Ataxia-Telangiectasia (A-T)ATM1957Standard Gene PanelCerebellar ataxia, immune issues, telangiectasiasRareFew thousandEarly childhood
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ATX-FXN2 (newly defined)FXN22023Multi-Gene PanelOverlap with FARareUnknown
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CANVASRFC1 2011Multi-Gene PanelSensory ataxia, bilateral vestibular loss, chronic coughRareLikely thousandsMean: ~50 years
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Episodic Ataxia Type 1 (EA1)KCNA11994Multi-Gene PanelBrief episodes, muscle twitching<1%RareChildhood or early adolescence; Average: ~8 years
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Episodic Ataxia Type 2 (EA2)CACNA1A1997Standard Gene PanelLong episodes, vertigo<1%RareOnset varies; often in childhood or adolescence
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Friedreich's Ataxia (FA)FXN1863Standard Gene PanelLimb/gait ataxia, cardiomyopathy, scoliosis40-50%15,000–20,000Typical: 10–15 years
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PNKP AtaxiaPNKP2016Multi-Gene PanelAtaxia, seizures, microcephalyRareRare7–14 years
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POLG-related AtaxiaPOLG2001Multi-Gene PanelAtaxia, epilepsy, neuropathyRareRareMedian: 2 years; Range: 1 month to 36 years
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SCA1ATXN11993Standard Gene PanelDysarthria, gait imbalance5-6%2,000–3,00030s–40s
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SCA10ATXN101996Multi-Gene PanelAtaxia, seizures<1%Few hundred–thousand10–50 years
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SCA12PPP2R2B1999Multi-Gene PanelTremor, cerebellar ataxia<1%Rare33 years (range: 8–55)
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SCA13KCNC32000Multi-Gene PanelChildhood onset, slowly progressive<1%RareChildhood or early adolescence
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SCA14PRKCG2003Multi-Gene PanelSlow progression, cognitive effects<1%RareAdulthood (typically 30s–40s)
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SCA15ITPR12000Multi-Gene PanelPure cerebellar ataxia<1%RareAdulthood (typically 30s–50s)
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SCA17TBP1999Multi-Gene PanelAtaxia, psychiatric symptoms<1%RareAdulthood (mean: mid-30s)
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SCA19/22KCND32004Multi-Gene PanelLate onset ataxia, cognitive involvement<1%RareAdulthood (typically 30s–50s)
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SCA2ATXN21997Standard Gene PanelSlow saccades, tremor6-7%3,000–4,00030s–40s (earlier onset with larger repeats)
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SCA21TMEM2401998Multi-Gene PanelAtaxia, mild intellectual disabilityRareRareAdulthood (mean: ~30s–40s)
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SCA23PDYN2000Multi-Gene PanelLate onset, pure cerebellar symptomsRareRareAdulthood (typically 30s–50s)
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SCA26Unknown2000Not AvailablePure cerebellar ataxiaRareRareAdulthood (mean onset ~42 years)
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SCA27FGF142004Multi-Gene PanelEpisodic ataxia, tremor, cognitive issuesRareRareAdulthood (mean onset ~40 years)
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SCA27BFGF14 2020Multi-Gene PanelEpisodic or progressive ataxia, intention tremor, vertigo or nystagmus.Rare, but newJust DiagnosiedAdulthood (recently described; typically mid-life)
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SCA28AFG3L22006Multi-Gene PanelSlow progressive ataxia, oculomotor signs1.5%Few hundredAdulthood (mean: ~35–45 years)
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SCA3ATXN31994Standard Gene PanelSpasticity, dystonia20-25%8,000–10,000Mean: 34.8 years (range: 12–63 years)
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SCA31BEAN12000Multi-Gene PanelLate-onset cerebellar ataxiaMostly in JapanRareAdulthood (mean: ~58 years; mostly in Japan)
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SCA36NOP562000Multi-Gene PanelAtaxia with hearing lossRareRareAdulthood (mean: 50s; often presents after age 40)
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SCA38ELOVL52004Multi-Gene PanelSlow progression, foot deformitiesRareRareAdulthood (mean: ~40 years)
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SCA4ZFHX32003Multi-Gene PanelGait ataxia, sensory neuropathy<1%RareAdulthood (30s–50s)
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SCA42CACNA1G1996Multi-Gene PanelMild cerebellar signs, slow progressionRareRareAdulthood (mean: ~40 years)
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SCA5SPTBN21993Multi-Gene PanelSlowly progressive ataxia<1%RareAdulthood (onset can vary; some in early childhood)
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SCA6CACNA1A1997Standard Gene PanelPure cerebellar ataxia4-5%1,000–2,000Typically 40s–60s (late-onset)
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SCA7ATXN71999Multi-Gene PanelVision loss, ataxia2-3%500–1,500Variable: can range from childhood to 40s (larger repeats = earlier onset)
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SCA8ATXN8OS2018Multi-Gene PanelCerebellar ataxia, variable expressivity<1%RareMean: ~38.3 years (range: infancy to 70s)
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STUB1-related Ataxia (SCA48)STUB12016Multi-Gene PanelCognitive decline, cerebellar ataxiaRareRareOnset varies; often in adulthood
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SYNE1 AtaxiaSYNE12007Multi-Gene PanelCerebellar ataxia, slow progressionRareRareOnset varies; often in adulthood
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Listed % = 96%
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