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  • Title: The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia.
    Author: Tanaka E, Maruyama H, Morino H, Nakajima E, Kawakami H.
    Journal: J Neurol Sci; 2008 Mar 15; 266(1-2):180-1. PubMed ID: 17915252.
    Abstract:
    To confirm the incidence of SCA16 in Japan, we screened DNA samples from a number of patients of ataxia of unknown etiology for the substitution. We examined a total of 323 DNA samples from Japanese patients with inherited spinocerebellar ataxia. We found no 317-base pair band in the patients with ataxia of unknown etiology. It seemed that this mutation (c.4256C>T) is rare in Japanese patients with inherited spinocerebellar ataxia. Mutations in other populations should be analyzed. Pathological examinations and molecular biological examinations are needed to confirm that this mutation is a true cause of SCA16.
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