Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia

被引：34

作者：

Halevy, Ayelet ^{[1
,2
]}

Lerer, Israela ^{[3
,4
]}

Cohen, Rony ^{[1
,2
]}

Kornreich, Liora ^{[2
,5
]}

Shuper, Avinoam ^{[1
,2
]}

Gamliel, Moria ^{[3
,4
]}

Zimerman, Bat-El ^{[3
,4
]}

Korabi, Isam ^{[3
,4
]}

Meiner, Vardiella ^{[3
,4
]}

Straussberg, Rachel ^{[1
,2
]}

Lossos, Alexander ^{[6
]}

机构：

[1] Schneider Childrens Med Ctr Israel, Dept Pediat Neurol, IL-49202 Petah Tiqwa, Israel

[2] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel

[3] Hadassah Hebrew Univ Med Ctr, Dept Genet, Jerusalem, Israel

[4] Hadassah Hebrew Univ Med Ctr, Dept Metab Dis, Jerusalem, Israel

[5] Schneider Childrens Med Ctr Israel, Dept Imaging, IL-49202 Petah Tiqwa, Israel

[6] Hadassah Hebrew Univ Med Ctr, Dept Neurol, Jerusalem, Israel

来源：

JOURNAL OF NEUROLOGY | 2014年 / 261卷 / 11期

关键词：

Cerebellar atrophy; EXOSC3; HSP; Pontocerebellar hypoplasia; PCH; Spastic paraplegia; PONTOCEREBELLAR HYPOPLASIA TYPE-1; RNA EXOSOME;

D O I：

10.1007/s00415-014-7457-x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：2165 / 2169

页数：5

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