Mutations of the tau gene in frontotemporal dementia with parkinsonism and genetic association of the tau locus with progressive supranuclear palsy and corticobasal degeneration directly implicate the tau gene in the aetiology of these tauopathies. Three studies have also shown an association of the tau locus with clinically diagnosed Parkinson's disease. Noting the significant incidence of clinical misdiagnosis of Parkinson's disease, we investigated this tau gene association in a series of 157 pathologically confirmed cases of brain stem Lewy body Parkinson's disease by analysing their tau haplotype status.
View Article and Find Full Text PDFThe Parkin gene on 6q25.2-27 is responsible for about 50% of autosomal recessive juvenile parkinsonism and less than 20% of sporadic early-onset cases. We recently mapped a novel locus for early-onset parkinsonism (PARK6) on chromosome 1p35-p36 in a large family from Sicily.
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