期刊
JOURNAL OF NEUROLOGY
卷 261, 期 11, 页码 2165-2169出版社
SPRINGER HEIDELBERG
DOI: 10.1007/s00415-014-7457-x
关键词
Cerebellar atrophy; EXOSC3; HSP; Pontocerebellar hypoplasia; PCH; Spastic paraplegia
资金
- Israeli MOH grant [5914]
- Israeli MOH/ERA-Net [4800]
We describe two pairs of siblings from a consanguineous family manifesting autosomal recessive hereditary spastic paraplegia caused by a novel mutation in the EXOSC3 gene, previously reported in pontocerebellar hypoplasia type 1. Clinical findings included delayed motor milestones, early-onset spastic paraplegia, variable cognitive disability, and cerebellar signs. Cerebral imaging demonstrated enlarged cisterna magna and mild hypoplasia and atrophy of the lower vermis with a normal pons. Genetic analysis using homozygosity mapping followed by whole exome sequencing identified homozygous c.571G > T; p.G191C mutation in the EXOSC3 gene. We suggest that EXOSC3 mutations may present not only as pontocerebellar hypoplasia type 1, but also as a complicated form of hereditary spastic paraplegia without pontine hypoplasia or atrophy.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据