A novel mutation in SACS gene in a family from southern Italy

被引：57

作者：

Criscuolo, C

Banfi, S

Orio, M

Gasparini, P

Monticelli, A

Scarano, V

Santorelli, FM

Perretti, A

Santoro, L

De Michele, G

Filla, A

机构：

[1] Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

[2] Univ Naples Federico II, Dept Mol & Cellular Biol, I-80131 Naples, Italy

[3] Univ Naples Federico II, Dept Pathol, I-80131 Naples, Italy

[4] Univ Roma La Sapienza, Dept Neurol Sci, Rome, Italy

[5] Telethon Inst Genet & Med, Naples, Italy

来源：

NEUROLOGY | 2004年 / 62卷 / 01期

关键词：

D O I：

10.1212/WNL.62.1.100

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS.

引用

页码：100 / 102

页数：3

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