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Article

Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.

Neurology - 28 Jul 2009

Pankratz N, Kissell D K, Pauciulo M W, Halter C A, Rudolph A, Pfeiffer R F, Marder K S, Foroud T, Nichols W C

Abstract excerpt

OBJECTIVE: Mutations in both alleles of parkin have been shown to result in Parkinson disease (PD). However, it is unclear whether haploinsufficiency (presence of a mutation in only 1 of the 2 parkin alleles) increases the risk for PD. METHODS: We performed comprehensive dosage and sequence analysis of all 12 exons of parkin in a sample of 520 independent patients with familial PD and 263 controls. We evaluated...

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Identifiers

PMID: 19636047
DOI: 10.1212/WNL.0b013e3181af7a33
PMCID: PMC2715211

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