LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation.
Here we report the relationship between age at onset, clinical course and genotype in a family with combined LRRK2 G2019S and Parkin exon 2 deletions. In the combined mutation carriers the age at onset and clinical course was highly variable and not always younger than in the carriers of LRRK2 G2019S mutations alone.
Marras
Connie
C
Movement Disorders Centre, Toronto Western Hospital, Toronto, Canada. Connie.marras@utoronto.ca
Klein
Christine
C
Lang
Anthony E
AE
Wakutani
Yosuke
Y
Moreno
Danielle
D
Sato
Christine
C
Yip
Edwin
E
Munhoz
Renato P
RP
Lohmann
Katja
K
Djarmati
Ana
A
Bi
Andrew
A
Rogaeva
Ekaterina
E
D000328:Adult; D017668:Age of Onset; D000368:Aged; D004252:DNA Mutational Analysis; D004843:Epistasis, Genetic / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D018628:Gene Dosage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D055815:Young Adult
D005819:Genetic Markers; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases