Article
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
Neurology - 25 Apr 2006
Criscuolo C, Chessa L, Di Giandomenico S, Mancini P, Saccà F, Grieco G S, Piane M, Barbieri F, De Michele G, Banfi S, Pierelli F, Rizzuto N, Santorelli F M, Gallosti L, Filla A, Casali C
Abstract excerpt
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in SETX have been described in AOA2 patients. OBJECTIVE: To describe the clinical features of AOA2 and to identify the SETX mutations in 10 patients from four...
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