Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease.
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.
Alcalay
Roy N
RN
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Mejia-Santana
Helen
H
Tang
Ming X
MX
Rakitin
Brian
B
Rosado
Llency
L
Ross
Barbara
B
Verbitsky
Miguel
M
Kisselev
Sergey
S
Louis
Elan D
ED
Comella
Cynthia L
CL
Colcher
Amy
A
Jennings
Danna
D
Nance
Martha A
MA
Bressman
Susan
S
Scott
William K
WK
Tanner
Caroline
C
Mickel
Susan F
SF
Andrews
Howard F
HF
Waters
Cheryl H
CH
Fahn
Stanley
S
Cote
Lucien J
LJ
Frucht
Steven J
SJ
Ford
Blair
B
Rezak
Michael
M
Novak
Kevin
K
Friedman
Joseph H
JH
Pfeiffer
Ronald
R
Marsh
Laura
L
Hiner
Bradley
B
Siderowf
Andrew
A
Ottman
Ruth
R
Clark
Lorraine N
LN
Marder
Karen S
KS
Caccappolo
Elise
E
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*
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