A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor

被引:219
作者
Farrer, M
Gwinn-Hardy, K
Muenter, M
DeVrieze, FW
Crook, R
Perez-Tur, J
Lincoln, S
Maraganore, D
Adler, C
Newman, S
MacElwee, K
McCarthy, P
Miller, C
Waters, C
Hardy, J
机构
[1] Mayo Clin Jacksonville, Jacksonville, FL 32224 USA
[2] Mayo Clin Scottsdale, Scottsdale, AZ 85259 USA
[3] Mayo Clin Rochester, Rochester, MN 55901 USA
[4] Univ So Calif, Sch Med, Dept Pathol, Los Angeles, CA 90089 USA
[5] USC Neurol Inc, Los Angeles, CA 90033 USA
关键词
D O I
10.1093/hmg/8.1.81
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
We investigated a large family with levodopa-responsive, Lewy body parkinsonism in which the disease segregates as an apparent autosomal dominant trait, After performing a genome screen, we identified a chromosome 4p haplotype that segregates with the disease, However, this haplotype also occurs in individuals in the pedigree who do not have clinical Lewy body parkinsonism but rather suffer from postural tremor, consistent with essential tremor. These data demonstrate a new locus for Lewy body parkinsonism and suggest that in some circumstances postural tremor can be an alternative phenotype of the same pathogenic mutation as Lewy body parkinsonism.
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收藏
页码:81 / 85
页数:5
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