Article
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
Orphanet journal of rare diseases - 14 Aug 2013
Nanetti Lorenzo, Cavalieri Simona, Pensato Viviana, Erbetta Alessandra, Pareyson Davide, Panzeri Marta, Zorzi Giovanna, Antozzi Carlo, Moroni Isabella, Gellera Cinzia, Brusco Alfredo, Mariotti Caterina
Abstract excerpt
OBJECTIVES/BACKGROUND: Ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T, ATM gene), ataxia with oculomotor apraxia type 1 (AOA1, APTX gene) and type 2 (AOA2, SETX gene). Although, a few unique clinical features differentiate each of these forms, the patients also share common clinical signs, such as the presence of cerebellar atrophy,...
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