Independent occurrence of I2020T mutation in the kinase domain of the leucine rich repeat kinase 2 gene in Japanese and German Parkinson's disease families.

Abstract:

:To understand the genetic origin of I2020T mutation in the kinase domain of leucine rich repeat kinase 2 (LRRK2), we investigated the original PARK8 Japanese family (Sagamihara family) and a German family (family 32), both of which were found to harbor I2020T as the causal mutation for autosomal dominant familial Parkinson's disease (PD). Microsatellite-haplotype analysis around the LRRK2 gene indicated that the mutation-carrying haplotypes of the two families were distinct from each other. This indicated that the I2020T mutation, an essential pathogenic mutation of PARK8-related PD, had occurred independently in the two PD families.

journal_name

Neurosci Lett

journal_title

Neuroscience letters

authors

Ohta E,Hasegawa K,Gasser T,Obata F

doi

10.1016/j.neulet.2007.02.086

subject

Has Abstract

pub_date

2007-04-24 00:00:00

pages

21-3

issue

1

eissn

0304-3940

issn

1872-7972

pii

S0304-3940(07)00154-1

journal_volume

417

pub_type

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