title: LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation.
abstract: 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.
authors.affiliation: Movement Disorders Centre, Toronto Western Hospital, Toronto, Canada. Connie.marras@utoronto.ca
authors.forename: Connie
authors.initials: C
authors.lastname: Marras
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Anthony E
authors.initials: AE
authors.lastname: Lang
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Wakutani
authors.forename: Danielle
authors.initials: D
authors.lastname: Moreno
authors.forename: Christine
authors.initials: C
authors.lastname: Sato
authors.forename: Edwin
authors.initials: E
authors.lastname: Yip
authors.forename: Renato P
authors.initials: RP
authors.lastname: Munhoz
authors.forename: Katja
authors.initials: K
authors.lastname: Lohmann
authors.forename: Ana
authors.initials: A
authors.lastname: Djarmati
authors.forename: Andrew
authors.initials: A
authors.lastname: Bi
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
mesh_terms: 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
chemical_list: 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