Analysis of α-synuclein, parkin, tau, and UCH-L1 in a Japanese family fo autosomal dominant Parkinsonism

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Objectives-----To examine whether autosomal dominant parkinsonism of a Japanese family, Sagamihara family, was due to the mutations of α-synuclein, parkin, tau, and UCH-L1, which have been reported as the causal genes for parkinsonism in other families.Methods-----Point mutations ofα-synuclein exons 3 and 4 were investigated by digesting polymerase-chain reaction (PCR) amplified genomic DNA fragments. Exon deletion of parkin was examined by amplifying exons 3, 4, 5, 6 and 7 by PCR. Point mutations of tau exons 9, 10, 12, and 13 and intron 10, and of UCH-L1 exon 4 were analyzed by direct sequencing of the PCR-amplified DNA fragments of each exon and intron.Results-----No point mutation was detected inα-synuclein exon 3 or 4. No exon deletion was detected in parkin exon 3, 4, 5, 6 or 7. The sequences of tau exons 9, 10, 12 and 13 as well as intron 10 were normal. The UCH-L1 sequence of exon 4 through the beginning of intron 4 was also normal including a polymorphic nucleotide substitution.Conclusion-----The parkinsonism of the Sagamihara family seems not to be due to previously identified point mutations of α-synuclein, tau, or UCH-L1, or to exon deletion of parkin.