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HEREDITARY ATAXIAS: DOMINANT

Autosomal DominantAutosomal RecessiveX-LinkedMitochondrialAtaxia/Cerebellar
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Overview

From WUSTL Neuromuscular

Spinocerebellar Ataxia (SCA) 1: Ataxin-1; CAG repeat; 6p22 2: Ataxin-2; CAG repeat; 12q24 3: Ataxin-3; CAG repeat; 14q32 4: ZFHX3; GGC repeat; 16q22 5: β-III Spectrin; 11q13 6: CACNA1A; CAG repeat; 19p13 7: Ataxin-7; CAG repeat; 3p21 8: ATXN8OS; CTG repeat; 13q21 9: ? 10: ATXN10; ATTCT repeat; 22q13 11: TTBK2; 15q14 12: PPP2R2B; CAG repeat; 5q31 13: KCNC3; 19q13.33 14: PRKCG; 19q13.42 15, 16, 29: ITPR1; 3p26 17: TBP; CAG repeat; 6q27 18: 7q31 19: KCND3; 1p13 20: 11q12, Duplication 21: TMEM240; 1p36 22: KCND3; 1p13 23: PDYN; 20p13 25: PNPT1; 2p16 26: EEF2; 19p13 27: FGF14; 13q33 28: AFG3L2; 18p

Related Conditions

Shared genes
Axon: Transport
NUDELJNKSYNAPTIC
CMYO13: Myopathy, Congenital, Bailey-Bloch
III
Schwann Cell Development
IIIBBJUN
Semaphorins
III

External Resources

WUSTL Neuromuscular
Washington University Disease Center
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.