In:
European Neurology, S. Karger AG, Vol. 46, No. 1 ( 2001), p. 20-24
Abstract:
We examined whether autosomal dominant parkinsonism of a Japanese family, Sagamihara family, was due to the mutations of 〈 i 〉 〈 i 〉 α 〈 /i 〉 -synuclein, parkin, tau 〈 /i 〉 , and 〈 i 〉 UCH-L1 〈 /i 〉 , which have been reported as the causal genes for parkinsonism in other families. Restriction-enzyme digestion of polymerase-chain reaction (PCR) amplified genomic DNA fragments of 〈 i 〉 〈 i 〉 α 〈 /i 〉 -synuclein 〈 /i 〉 exons 3 and 4 detected no point mutation. PCR-amplification of 〈 i 〉 parkin 〈 /i 〉 exons 3, 4, 5, 6 and 7 detected no exon deletion. Direct sequencing of PCR-amplified DNA fragments of 〈 i 〉 tau 〈 /i 〉 exons 9, 10, 12, and 13 and intron 10, and of 〈 i 〉 UCH-L1 〈 /i 〉 exon 4 revealed that all these exons and intron were normal including a polymorphic nucleotide substitution. These results indicated that the parkinsonism of the Sagamihara family seems not to be due to previously identified point mutations of 〈 i 〉 〈 i 〉 α 〈 /i 〉 -synuclein, tau, 〈 /i 〉 or 〈 i 〉 UCH-L1 〈 /i 〉 , or to exon deletion of 〈 i 〉 parkin 〈 /i 〉 .
Type of Medium:
Online Resource
ISSN:
0014-3022
,
1421-9913
Language:
English
Publisher:
S. Karger AG
Publication Date:
2001
detail.hit.zdb_id:
1482237-4
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