Autosomal dominant ataxias: types
Evidence-based neurology checklist on autosomal dominant ataxias: types: 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 Acronym
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
Acronym
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.
