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Article

Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.

Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2014

Sharp Madeleine E, Marder Karen S, Côté Lucien, Clark Lorraine N, Nichols William C, Vonsattel Jean-Paul, Alcalay Roy N

Abstract excerpt

BACKGROUND: PARKIN-related disease remains incompletely understood. First, the pathogenicity of heterozygous PARKIN mutations is unclear, although some evidence supports causality. Second, unlike sporadic Parkinson's disease (PD), Lewy bodies are present only in a minority of cases. Only one other heterozygote PARKIN carrier with autopsy findings has been described. Our case adds to the broadening pathological...

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Identifiers

PMID: 24375549
DOI: 10.1002/mds.25792
PMCID: PMC4281030

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