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Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.

著者 McNicoll CF , Latourelle JC , MacDonald ME , Lew MF , Suchowersky O , Klein C , Golbe LI , Mark MH , Growdon JH , Wooten GF , Watts RL , Guttman M , Racette BA , Perlmutter JS , Ahmed A , Shill HA , Singer C , Saint-Hilaire MH , Massood T , Huskey KW , De
Mov Disord.2008 Aug 15 ; 23(11):1596-601.
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Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts 02118, USA.

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The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15-34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD.
PMID: 18649400 [PubMed - indexed for MEDLINE]
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