title: Neuropsychological Profile of Parkin Mutation Carriers with and without Parkinson Disease: The CORE-PD Study.
abstract: The cognitive profile of early onset Parkinson's disease (EOPD) has not been clearly defined. Mutations in the parkin gene are the most common genetic risk factor for EOPD and may offer information about the neuropsychological pattern of performance in both symptomatic and asymptomatic mutation carriers. EOPD probands and their first-degree relatives who did not have Parkinson's disease (PD) were genotyped for mutations in the parkin gene and administered a comprehensive neuropsychological battery. Performance was compared between EOPD probands with (N = 43) and without (N = 52) parkin mutations. The same neuropsychological battery was administered to 217 first-degree relatives to assess neuropsychological function in individuals who carry parkin mutations but do not have PD. No significant differences in neuropsychological test performance were found between parkin carrier and noncarrier probands. Performance also did not differ between EOPD noncarriers and carrier subgroups (i.e., heterozygotes, compound heterozygotes/homozygotes). Similarly, no differences were found among unaffected family members across genotypes. Mean neuropsychological test performance was within normal range in all probands and relatives. Carriers of parkin mutations, whether or not they have PD, do not perform differently on neuropsychological measures as compared to noncarriers. The cognitive functioning of parkin carriers over time warrants further study.
authors.affiliation: Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
authors.forename: Elise
authors.initials: E
authors.lastname: Caccappolo
authors.forename: Roy N
authors.initials: RN
authors.lastname: Alcalay
authors.forename: Helen
authors.initials: H
authors.lastname: Mejia-Santana
authors.forename: Ming-X
authors.initials: MX
authors.lastname: Tang
authors.forename: Brian
authors.initials: B
authors.lastname: Rakitin
authors.forename: Llency
authors.initials: L
authors.lastname: Rosado
authors.forename: Elan D
authors.initials: ED
authors.lastname: Louis
authors.forename: Cynthia L
authors.initials: CL
authors.lastname: Comella
authors.forename: Amy
authors.initials: A
authors.lastname: Colcher
authors.forename: Danna
authors.initials: D
authors.lastname: Jennings
authors.forename: Martha A
authors.initials: MA
authors.lastname: Nance
authors.forename: Susan
authors.initials: S
authors.lastname: Bressman
authors.forename: William K
authors.initials: WK
authors.lastname: Scott
authors.forename: Caroline M
authors.initials: CM
authors.lastname: Tanner
authors.forename: Susan F
authors.initials: SF
authors.lastname: Mickel
authors.forename: Howard F
authors.initials: HF
authors.lastname: Andrews
authors.forename: Cheryl
authors.initials: C
authors.lastname: Waters
authors.forename: Stanley
authors.initials: S
authors.lastname: Fahn
authors.forename: Lucien J
authors.initials: LJ
authors.lastname: Cote
authors.forename: Steven
authors.initials: S
authors.lastname: Frucht
authors.forename: Blair
authors.initials: B
authors.lastname: Ford
authors.forename: Michael
authors.initials: M
authors.lastname: Rezak
authors.forename: Kevin
authors.initials: K
authors.lastname: Novak
authors.forename: Joseph H
authors.initials: JH
authors.lastname: Friedman
authors.forename: Ronald F
authors.initials: RF
authors.lastname: Pfeiffer
authors.forename: Laura
authors.initials: L
authors.lastname: Marsh
authors.forename: Brad
authors.initials: B
authors.lastname: Hiner
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Siderowf
authors.forename: Barbara M
authors.initials: BM
authors.lastname: Ross
authors.forename: Miguel
authors.initials: M
authors.lastname: Verbitsky
authors.forename: Sergey
authors.initials: S
authors.lastname: Kisselev
authors.forename: Ruth
authors.initials: R
authors.lastname: Ottman
authors.forename: Lorraine N
authors.initials: LN
authors.lastname: Clark
authors.forename: Karen S
authors.initials: KS
authors.lastname: Marder
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000704:Analysis of Variance; D001288:Attention / Q000502:physiology; D003072:Cognition Disorders / Q000209:etiology / Q000235:genetics*; D056344:Executive Function / Q000502:physiology; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008568:Memory / Q000502:physiology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009483:Neuropsychological Tests; D010300:Parkinson Disease / Q000150:complications / Q000235:genetics*; D012189:Retrospective Studies; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D014796:Visual Perception / Q000502:physiology; D055815:Young Adult
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein