Article
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Neurogenetics - 1 Aug 2011
Castellotti Barbara, Mariotti Caterina, Rimoldi Marco, Fancellu Roberto, Plumari Massimo, Caimi Sara, Uziel Graziella, Nardocci Nardo, Moroni Isabella, Zorzi Giovanna, Pareyson Davide, Di Bella Daniela, Di Donato Stefano, Taroni Franco, Gellera Cinzia
Abstract excerpt
Ataxia with oculomotor apraxia type1 (AOA1, MIM 208920) is a rare autosomal recessive disease caused by mutations in the APTX gene. We screened a cohort of 204 patients with cerebellar ataxia and 52 patients with early-onset isolated chorea. APTX gene mutations were found in 13 ataxic patients (6%). Eleven patients were homozygous for the known p.W279X, p.W279R, and p.P206L mutations. Three novel APTX mutations...
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