Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

被引：56

作者：

Grieco, GS

Malandrini, A

Comanducci, G

Leuzzi, V

Valoppi, M

Tessa, A

Palmeri, S

Benedetti, L

Pierallini, A

Gambelli, S

Federico, A

Pierelli, F

Bertini, E

Casali, C

Santorelli, FM

机构：

[1] Bambino Gesu Pediat Hosp, IRCCS Bambino Gesu, I-00165 Rome, Italy

[2] Ctr Expt Neurobiol Mondino Tor Vergata S Lucia, IRCCS C Mondino, Rome, Italy

[3] Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy

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

[5] Univ Roma La Sapienza, Dept Child Neurol & Psychiat, Rome, Italy

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

[7] IRCCS Neuromed, Pozzilli, Italy

来源：

NEUROLOGY | 2004年 / 62卷 / 01期

关键词：

D O I：

10.1212/01.WNL.0000104491.66816.77

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 early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS is frequent in the Charlevoix-Saguenay region of Quebec but rare elsewhere. Mutations in SACS, encoding sacsin, a protein of unknown function, are associated with ARSACS. The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation.

引用

页码：103 / 106

页数：4

共 9 条

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Antonarakis SE, 1998, HUM MUTAT, V11, P1

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