Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

被引：39

作者：

Criscuolo, C

Saccà, F

De Michele, G

Mancini, P

Combarros, O

Infante, J

Garcia, A

Banfi, S

Filla, A

Berciano, J

机构：

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

[2] Telethon Inst Genet & Med, Naples, FL USA

[3] Univ Cantabria, Neurol Serv, Univ Marques de Valdecilla, E-39005 Santander, Spain

来源：

MOVEMENT DISORDERS | 2005年 / 20卷 / 10期

关键词：

ARSACS; spastic ataxia; SACS;

D O I：

10.1002/mds.20579

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease. (c) 2005 Movement Disorder Society.

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收藏

页码：1358 / 1361

页数：4

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