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Article

R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family.

European journal of neurology - 1 Jan 2009

Sina F, Shojaee S, Elahi E, Paisán-Ruiz C

Abstract excerpt

BACKGROUND: PLA2G6 mutations are known to be responsible for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA). In addition, novel mutations in PLA2G6 have recently been associated with dystonia-parkinsonism in two unrelated consanguineous families. METHODS: Direct sequencing analysis of the PLA2G6 gene. RESULTS: Here, we report the segregation of R632W with disease...

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PMID: 19087156
DOI: 10.1111/j.1468-1331.2008.02356.x

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