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 Lettjournal_title
Neuroscience lettersauthors
Ohta E,Hasegawa K,Gasser T,Obata Fdoi
10.1016/j.neulet.2007.02.086subject
Has Abstractpub_date
2007-04-24 00:00:00pages
21-3issue
1eissn
0304-3940issn
1872-7972pii
S0304-3940(07)00154-1journal_volume
417pub_type
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