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Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: Novel mutations in SETX

From the Division of Molecular Genetics and Clinical Research (T.A., J.I.), Department of Neurology (H.Y.), and Department of Pediatrics (A.M.), National Nanao Hospital; and the Department of Neurology (K.Y.), National Iou Hospital, Japan.

Address correspondence and reprint requests to Dr. Tomoya Asaka, Division of Molecular Genetics and Clinical Research, National Nanao Hospital, 8-3-1 Mattoumachi, Nanao 926-0841, Japan; e-mail: asaka-t{at}nanao.hosp.go.jp

Mutations in the Senataxin gene (SETX) are associated with autosomal recessive ataxia-ocular apraxia 2 (AOA2) and autosomal dominant juvenile ALS (ALS4). Here, the authors describe novel homozygous missense mutations in SETX, M274I, and R1294C, found in two siblings with ataxia, peripheral neuropathy, and increased serum -fetoprotein level and three other siblings with heterozygous missense mutations who were neurologically asymptomatic. The results demonstrate that the double missense mutations are responsible for AOA2 but not for ALS4.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the May 23 issue to find the title link for this article.

Disclosure: The authors report no conflicts of interest.

Received April 28, 2005. Accepted in final form January 31, 2006.

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