[The absence of the common LRRK2 G2019S mutation in 120 young onset Hungarian Parkinon's disease patients].
Parkinson's disease is a promising target of applying personalized medicine. For this purpose it is crucial to reveal the genetic and environmental factors, which contribute to the disease, also to collect epidemiologic data and to preserve the patients samples and data in a proper biobank. In our investigation we examined the prevalence of the most frequent Parkinson's disease causing LRRK2 G2019S mutation in a Hungarian Parkinson-patient group. From 120 patients, we haven't detected this substitution in anyone. Our investigation suggest that the mutation LRRK2 G2019S may be a rare cause of Parkinson disease in the Hungarian population.
Semmelweis Egyetem, Neurológiai Klinika, Molekuláris Neurológiai Klinikai es Kutatási Központ, Budapest.
Péter
P
Balicza
Benjamin
B
Bereznai
Annamária
A
Takáts
Péter
P
Klivényi
György
G
Dibó
Eszter
E
Hidasi
István
I
Balogh
Mária Judit
MJ
Molnár
D000328:Adult; D017668:Age of Onset; D000368:Aged; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005998:Glycine; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D017354:Point Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine
D012694:Serine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine