The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia.
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.
Tanaka
Eiji
E
Department of Epidemiology, Division of Bio-Medical Informatics, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan.
Maruyama
Hirofumi
H
Morino
Hiroyuki
H
Nakajima
Eiko
E
Kawakami
Hideshi
H
D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D058966:Contactins; D004247:DNA / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D007564:Japan / Q000453:epidemiology; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D020133:Reverse Transcriptase Polymerase Chain Reaction; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics*
C098304:CNTN4 protein, human; D015816:Cell Adhesion Molecules, Neuronal; D058966:Contactins; D004247:DNA