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Article

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

BMC neurology - 22 Feb 2005

Poorkaj Parvoneh, Moses Lina, Montimurro Jennifer S, Nutt John G, Schellenberg Gerard D, Payami Haydeh

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15725358
DOI: 10.1186/1471-2377-5-4
PMCID: PMC551608

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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