Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism.

Ibáñez, P; De Michele, G; Bonifati, V; Lohmann, E; Thobois, S; Pollak, P; Agid, Y; Heutink, P et al. · Neurology · 2003

case_series · Level IV

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Abstract

The DJ-1 gene was identified as responsible for early onset autosomal recessive parkinsonism in two families (PARK7). In this study, after excluding mutations in the parkin gene, the authors screened a large series of early onset autosomal recessive parkinsonism families and consanguineous isolated patients of diverse geographic origins for DJ-1 mutations. No mutations were found. This indicates that PARK7 is not a common locus for early onset autosomal recessive parkinsonism, and that one or more new loci remains to be identified.

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