Literature DB >> 11835383

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset.

Vincenzo Bonifati1, Guido J Breedveld, Ferdinando Squitieri, Nicola Vanacore, Pierluigi Brustenghi, Biswadjiet S Harhangi, Pasquale Montagna, Milena Cannella, Giovanni Fabbrini, Patrizia Rizzu, Cornelia M van Duijn, Ben A Oostra, Giuseppe Meco, Peter Heutink.   

Abstract

Two new loci, PARK6 and PARK7, for autosomal recessive early-onset parkinsonism have recently been identified on chromosome 1p, in single large pedigrees. Among 4 autosomal recessive early-onset families analyzed here, 2 supported linkage to PARK7, 1 with conclusive evidence. These data confirm localization of autosomal recessive early-onset parkinsonism to PARK7, suggesting it to be a frequent locus. Assignment of families to either PARK6 or PARK7 might be difficult because of the proximity of the two loci on chromosome 1p.

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Year:  2002        PMID: 11835383     DOI: 10.1002/ana.10106

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  13 in total

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Review 5.  The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.

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Review 8.  Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease.

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9.  DJ-1 Mutations are Rare in a Swedish Parkinson Cohort.

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10.  Merging mouse transcriptome analyses with Parkinson's disease linkage studies.

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