Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease.
We report the results of a family-based study of LRRK2 G2019S penetrance in Parkinson disease. We studied 19 families identified through the analysis of unrelated consecutive patients. The cumulative incidence of the disease was 15% at 60 years, 21% at 70 years, and 32% at 80 years. This study provides accurate estimates of G2019S penetrance by minimizing the selection bias.
Goldwurm
S
S
Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy. goldwurm@parkinson.it
Zini
M
M
Mariani
L
L
Tesei
S
S
Miceli
R
R
Sironi
F
F
Clementi
M
M
Bonifati
V
V
Pezzoli
G
G
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005817:Genetic Counseling / Q000379:methods*; D020022:Genetic Predisposition to Disease; D005998:Glycine / Q000235:genetics*; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D019683:Penetrance; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine / Q000235:genetics*
D012694:Serine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine