title: Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease.
abstract: While little is known about risk factors for cognitive impairment in early onset Parkinson disease (EOPD), postmortem studies have shown an association between dementia with Lewy bodies (DLB) and glucocerebrosidase (GBA) mutation. We compared Mini-Mental State Examination (MMSE) performance and self-reported cognitive impairment in 699 EOPD participants genotyped for mutations in parkin (PRKN), leucine-rich repeat kinase-2 (LRRK2), and GBA. Logistic regression was used to assess the association between reported cognitive impairment and MMSE score, as well as between GBA group membership and self-reported impairment and MMSE. GBA carriers reported more impairment, but MMSE performance did not differ among genetic groups. Detailed neuropsychological testing is required to explore the association between cognitive impairment and GBA mutations.
authors.affiliation: Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
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: Barbara
authors.initials: B
authors.lastname: Ross
authors.forename: Miguel
authors.initials: M
authors.lastname: Verbitsky
authors.forename: Sergey
authors.initials: S
authors.lastname: Kisselev
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
authors.initials: C
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 H
authors.initials: CH
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 J
authors.initials: SJ
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
authors.initials: R
authors.lastname: Pfeiffer
authors.forename: Laura
authors.initials: L
authors.lastname: Marsh
authors.forename: Bradley
authors.initials: B
authors.lastname: Hiner
authors.forename: Andrew
authors.initials: A
authors.lastname: Siderowf
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
authors.forename: Elise
authors.initials: E
authors.lastname: Caccappolo
mesh_terms: D003072:Cognition Disorders / Q000235:genetics* / Q000523:psychology*; D005962:Glucosylceramidase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D016015:Logistic Models; D009154:Mutation / Q000235:genetics / Q000502:physiology; D009483:Neuropsychological Tests; D010300:Parkinson Disease / Q000235:genetics* / Q000523:psychology*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: 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; D005962:Glucosylceramidase