期刊
AMERICAN JOURNAL OF MEDICAL GENETICS
卷 114, 期 5, 页码 584-591出版社
WILEY-LISS
DOI: 10.1002/ajmg.10525
关键词
Parkinson disease; Parkin; neurodegeneration; haplo-insufficiency
资金
- NIEHS NIH HHS [ES1075] Funding Source: Medline
- NINDS NIH HHS [NS33987] Funding Source: Medline
Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin-related disease is presumed to be an autosomal-recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we reevaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries. Novel deletion, point and intronic splice site mutations are described, along with promoter variation. These data, coupled with a complete review of published Parkin mutations, confirms that not only is recessive loss of Parkin a risk factor for juvenile and early onset Parkinsonism but that Parkin haploinsufficiency may be sufficient for disease in some cases. (C) 2002 Wiley-Liss, Inc.
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