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NEUROLOGY 2006;66:1251-1252
© 2006 American Academy of Neurology
Brief Communications

New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2

M. Takagi, MD*, T. Ozawa, MD, PhD*, K. Hara, MD, PhD*, S. Naruse, MD, PhD, T. Ishihara, MD, J. Shimbo, MD, S. Igarashi, MD, PhD, K. Tanaka, MD, PhD, O. Onodera, MD, PhD and M. Nishizawa, MD, PhD

From the Departments of Neurology, Clinical Neuroscience Branch (M.T., T.O., K.H., T.I., J.S., S.I., K.T., M.N.) and Molecular Neuroscience, Resource Branch for Brain Disease (O.O.), Niigata University Brain Research Institute, Niigata, Japan; and the Department of Neurology (S.N.), Nagaoka Red Cross Hospital, Niigata, Japan.

Address correspondence and reprint requests to Dr. Masatoyo Nishizawa, Department of Neurology, Clinical Neuroscience Branch, Niigata University Brain Research Institute, 1 Asahimachi, Niigata 951-8585, Japan; e-mail: nishi{at}bri.niigata-u.ac.jp

The authors report a Japanese patient with hereditary sensory and autonomic neuropathy type 2 (HSAN2) who has a new mutation of the HSN2 gene. The pathologic findings of the patient matched those of Canadian patients. They identified a homozygous 1134-1135 ins T mutation, resulting in a frameshift, and the subsequent premature stop codon at residue 378. These observations support the hypothesis that HSN2 is a causative gene for HSAN2.

*The first three authors contributed equally to this work.

Disclosure: The authors report no conflicts of interest.

Received September 13, 2005. Accepted in final form January 13, 2006.




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