KUSUNOKI Junichi Kitasato University School of Medicine, Research Associate, 医学部, 助手 (70276129)
RHO Masafuchi Kitasato University School of Medicine, Research Associate, 医学部, 助手 (50210828)
FURUSAWA Eimei Kitasato University School of Medicine, Research Associate, 医学部, 助手 (20260854)
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.