SCA-2 presenting as parkinsonism in an Alberta family -: Clinical, genetic, and PET findings

被引：66

作者：

Furtado, S

Farrer, M

Tsuboi, Y

Klimek, ML

de la Fuente-Fernández, R

Hussey, J

Lockhart, P

Calne, DB

Suchowersky, O

Stoessl, AJ

Wszolek, ZK

机构：

[1] Mayo Clin Jacksonville, Jacksonville, FL 32224 USA

[2] Univ Calgary, Dept Clin Neurosci, Calgary, AB, Canada

[3] Univ Calgary, Movement Disorder Clin, Calgary, AB, Canada

[4] Univ British Columbia, Pacific Parkinsons Res Ctr, Vancouver, BC V5Z 1M9, Canada

来源：

NEUROLOGY | 2002年 / 59卷 / 10期

关键词：

D O I：

10.1212/01.WNL.0000035625.19871.DC

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors describe an Alberta family with levodopa-responsive parkinsonism without cerebellar abnormalities. Genetic testing showed expanded repeats for SCA-2; other mutations for parkinsonism were excluded. The expanded allele shows interruption of the CAG(.)repeat with CAA. PET in two affected members showed reduced fluorodopa uptake in striatum and normal raclopride binding. Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.

引用

页码：1625 / 1627

页数：3

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