DOPA-RESPONSIVE PARKINSONISM PHENOTYPE OF MACHADO-JOSEPH DISEASE - CONFIRMATION OF 14Q CAG EXPANSION

被引:85
作者
TUITE, PJ
ROGAEVA, EA
STGEORGEHYSLOP, PH
LANG, AE
机构
[1] TORONTO WESTERN HOSP,MORTON & GLORIA SHULMAN MOVEMENT DISORDER CTR,TORONTO,ON M5T 2S8,CANADA
[2] UNIV TORONTO,CTR RES NEURODEGENERAT DIS,TORONTO,ON,CANADA
[3] TORONTO HOSP,DEPT MED,DIV NEUROL,TORONTO,ON,CANADA
[4] UNIV TORONTO,TORONTO,ON,CANADA
关键词
D O I
10.1002/ana.410380422
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The subtype IV of Machado-Joseph disease (MJD), characterized by parkinsonism variably combined with ataxia, distal atrophy, and sensory loss, has been all but ignored in recent reports of MJD, including those describing the molecular biologic substrate of the disease. We have demonstrated expansion of the CAG trinucleotide repeat of the MJD1 gene located on chromosome 14q32.1 in 2 patients of Azorean descent who presented with levodopa-responsive atypical parkinsonism. Previous publications have documented the presence of this expanded repeat in the other more common MJD phenotypes (I-III). To our knowledge, this is the first molecular biologic confirmation of the presence of the MJD1 gene in the subtype IV phenotype. Patients presenting with parkinsonism and peripheral neuropathy should be screened for this genetic defect.
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页码:684 / 687
页数:4
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