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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adolescent
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Adult
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Age of Onset
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Aged
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Child
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DNA Mutational Analysis
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Female
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Gene Frequency
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Genetic Predisposition to Disease
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Humans
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Intracellular Signaling Peptides and Proteins
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Male
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Middle Aged
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Mutation*
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Oncogene Proteins / genetics*
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Parkinsonian Disorders / diagnosis
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Parkinsonian Disorders / genetics*
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Protein Deglycase DJ-1
Substances
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Intracellular Signaling Peptides and Proteins
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Oncogene Proteins
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PARK7 protein, human
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Protein Deglycase DJ-1