Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).
复制标题
DOI：
10.1038/hgv.2015.12
复制
发表时间：
2015
影响因子：
1.5
通讯作者：
Matsumoto N
中科院分区：
文献类型：
--
作者：
Yahikozawa H;Yoshida K;Sato S;Hanyu N;Doi H;Miyatake S;Matsumoto N
我们报告了一个患有痉挛性截瘫7（SPG 7）的日本家族，该家族在SPG 7中携带有害的纯合p.R398X突变。患者表现为主要的小脑共济失调表型。SPG 7在日本是相当罕见的，但它应该包括在遗传性痉挛-共济失调综合征的鉴别诊断中，即使小脑体征比锥体束体征明显得多。
We report a Japanese family with spastic paraplegia 7 (SPG7) that carries a deleterious homozygous p.R398X mutation in SPG7. The patients showed a predominant cerebellar ataxia phenotype. SPG7 is quite rare in Japan, but it should be included in the differential diagnosis for hereditary spastic-ataxic syndromes, even if the cerebellar signs are much more pronounced than the pyramidal tract signs.