A Japanese case of SCA14 with the Gly128Asp mutation.
Spinocerebellar ataxia type 14 (SCA14) is a rare form of autosomal dominant cerebellar ataxias caused by mutations in the protein kinase Cgamma gene (PRKCG). We have identified a Japanese patient with SCA14 who carried the Gly128Asp mutation in PRKCG. She first noticed gait unsteadiness at around age 42, and then her gait ataxia worsened very slowly for more than 20 years. At age 62, she was still ambulatory, although cerebellar ataxia was clinically evident. She is the second patient identified with the G128D mutation. Both patients with this mutation showed pure cerebellar ataxia. With only two families with SCA14 found in Japan prior to this study, the clinical features and disease-causing mutations in PRKCG are heterogeneous in the same ethnic background.
Morita
Hiroshi
H
Department of Medicine (Neurology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
Yoshida
Kunihiro
K
Department of Medicine (Neurology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan. kyoshida@hsp.md.shinshu-u.ac.jp.
Suzuki
Kayo
K
Department of Instrumental Analysis, Research Center for Human and Environmental Science, Shinshu University, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
Ikeda
Shu-Ichi
SI
Department of Medicine (Neurology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001224:Aspartic Acid / Q000235:genetics; D001483:Base Sequence; D002531:Cerebellum / Q000000981:diagnostic imaging; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D007564:Japan; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D011493:Protein Kinase C / Q000235:genetics*; D011859:Radiography; D020754:Spinocerebellar Ataxias / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*
D001224:Aspartic Acid; C087857:protein kinase C gamma; D011493:Protein Kinase C; D005998:Glycine