A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype.
The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Africans and Jews; besides, two distinct G2019S LRRK2 haplotypes were found in a small proportion of European families and in Japanese PD patients. This study revealed a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype. To the best of our knowledge, it is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.
Pirkevi
C
C
Molecular Biology and Genetics Department, Neurodegeneration Research Laboratory, Boğaziçi University, 34342 Istanbul, Turkey.
Lesage
S
S
Condroyer
C
C
Tomiyama
H
H
Hattori
N
N
Ertan
S
S
Brice
A
A
Başak
A N
AN
D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005828:Genetics, Population; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007564:Japan; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008875:Middle Aged; D008969:Molecular Sequence Data; D010300:Parkinson Disease / Q000235:genetics; D017354:Point Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D014421:Turkey
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases