Morita Hiroshi, Yoshida Kunihiro, Suzuki Kayo, Ikeda Shu-Ichi
Department of Medicine (Neurology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
Department of Instrumental Analysis, Research Center for Human and Environmental Science, Shinshu University, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
J Hum Genet. 2006;51(12):1118-1121. doi: 10.1007/s10038-006-0063-8. Epub 2006 Sep 22.
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.
14型脊髓小脑共济失调（SCA14）是一种罕见的常染色体显性遗传性小脑共济失调，由蛋白激酶Cγ基因（PRKCG）突变引起。我们发现了一名患有SCA14的日本患者，其PRKCG基因存在Gly128Asp突变。她在42岁左右首次注意到步态不稳，随后其步态共济失调在20多年里非常缓慢地恶化。62岁时，尽管临床上明显存在小脑共济失调，但她仍能行走。她是第二例被发现携带G128D突变的患者。两名携带此突变的患者均表现为单纯性小脑共济失调。在本研究之前，日本仅发现两个患有SCA14的家系，在相同种族背景下，PRKCG的临床特征和致病突变具有异质性。
