Autosomal dominant ataxias: types
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Autosomal dominant ataxias: types. Spinocerebellar ataxias (SCA 1,2,3,6,7,17), Episodic ataxias (EA). Fully referenced neurology checklist.
Major autosomal dominant ataxias
- Spinocerebellar ataxias (SCA 1,2,3,6,7,17)
- Episodic ataxias (EA)
- Dentato-rubro-pallido-luysian atrophy (DRPLA)
Other autosomal dominant ataxias
Locked: subscribe to see this section.
Acronym
Locked: subscribe to see this section.
References
- Filla A, De Michele G, Cocozza S, et al. Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. Neurology 2002; 58:922-928.
- Bourassa CV, Meijer IA, Merner ND, et al. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am J Hum Genet 2012; 91:548-552.
- Depondt C, Donatello S, Simonis N, et al. Autosomal recessive cerebellar ataxia of adult onset due to Mancuso M, Orsucci D, Siciliano G, Bonuccelli U. The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread. J Neurol 2014; 261(Suppl 2):S528-S541.
