Parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism.

ABSTRACT:

Background

parkin mutations are a common cause of parkinsonism. Possessing two parkin mutations leads to early-onset parkinsonism, while having one mutation may predispose to late-onset disease. This dosage pattern suggests that some parkin families should exhibit intergenerational variation in age at onset resembling anticipation. A subset of familial PD exhibits anticipation, the cause of which is unknown. The aim of this study was to determine if anticipation was due to parkin mutation dosage.

Methods

We studied 19 kindreds that had early-onset parkinsonism in the offspring generation, late-onset parkinsonism in the parent generation, and > or = 20 years of anticipation. We also studied 28 early-onset parkinsonism cases without anticipation. Patients were diagnosed by neu

SUBMITTER: Poorkaj P 

PROVIDER: S-EPMC551608 | biostudies-literature | 2005 Feb

REPOSITORIES: biostudies-literature