Article
Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype.
Neurology - 14 Dec 2004
Criscuolo C, Mancini P, Saccà F, De Michele G, Monticelli A, Santoro L, Scarano V, Banfi S, Filla A
Abstract excerpt
Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorder characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy. The causative gene (APTX) has been recently identified in Portuguese and Japanese kindreds. Three patients with AOA1 were identified in an APTX mutation screening on 28 Southern Italian patients with progressive ataxia and peripheral...
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