title: Clinical features of LRRK2-associated Parkinson's disease in central Norway.
abstract: Several pathogenic mutations in the leucine-rich repeat kinase 2 (LRRK2; PARK8) gene recently have been identified in familial and sporadic parkinsonism. We screened 435 Norwegian patients diagnosed with Parkinson's disease and 519 control subjects for the presence of 7 LRRK2 mutations. Nine patients from seven families were found to be heterozygote carriers of the LRRK2 6055G>A (G2019S) mutation. Twelve of 28 first-degree relatives also carried the mutation, but only 1 had Parkinson's disease. The clinical features included asymmetric resting tremor, bradykinesia, and rigidity with a good response to levodopa and could not be distinguished from idiopathic Parkinson's disease.
authors.affiliation: Department of Neurology, St. Olav's Hospital, Trondheim, Norway. jan.aasly@medisin.ntnu.no
authors.forename: Jan O
authors.initials: JO
authors.lastname: Aasly
authors.forename: Mathias
authors.initials: M
authors.lastname: Toft
authors.forename: Ignacio
authors.initials: I
authors.lastname: Fernandez-Mata
authors.forename: Jennifer
authors.initials: J
authors.lastname: Kachergus
authors.forename: Mary
authors.initials: M
authors.lastname: Hulihan
authors.forename: Linda R
authors.initials: LR
authors.lastname: White
authors.forename: Matthew
authors.initials: M
authors.lastname: Farrer
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000978:Antiparkinson Agents / Q000627:therapeutic use; D005260:Female; D006579:Heterozygote; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009127:Muscle Rigidity / Q000503:physiopathology; D009154:Mutation / Q000235:genetics / Q000502:physiology; D009664:Norway / Q000453:epidemiology; D010300:Parkinson Disease / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D014202:Tremor / Q000503:physiopathology
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases