Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorde r characterized by earlyonset cerebellar ataxia, oculomotor apraxia, and perip heral neuropathy. The causative gene (APTX) has been rece...Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorde r characterized by earlyonset cerebellar ataxia, oculomotor apraxia, and perip heral neuropathy. The causative gene (APTX) has been recently identified in Port uguese and Japanese kindreds. Three patients with AOA1 were identified in an APT X mutation screening on 28 Southern Italian patients with progressive ataxia and peripheral neuropathy. A novel homozygous missense mutation (H201Q) was found i n one patient and a Japanese missense mutation (P206L) in two. AOA1 clinical het erogeneity and onset later than previously described are shown.展开更多
文摘Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorde r characterized by earlyonset cerebellar ataxia, oculomotor apraxia, and perip heral neuropathy. The causative gene (APTX) has been recently identified in Port uguese and Japanese kindreds. Three patients with AOA1 were identified in an APT X mutation screening on 28 Southern Italian patients with progressive ataxia and peripheral neuropathy. A novel homozygous missense mutation (H201Q) was found i n one patient and a Japanese missense mutation (P206L) in two. AOA1 clinical het erogeneity and onset later than previously described are shown.
