title: Neuropsychiatric characteristics of GBA-associated Parkinson disease.
abstract: Mutations in GBA1 are a well-established risk factor for Parkinson disease (PD). GBA-associated PD (GBA-PD) may have a higher burden of nonmotor symptoms than idiopathic PD (IPD). We sought to characterize the relationship between GBA-PD and neuropsychiatric symptoms. Subjects were screened for common GBA1 mutations. GBA-PD (n=31) and non-carrier (IPD; n=55) scores were compared on the Unified Parkinson Disease Rating Scale (UPDRS), Montreal Cognitive Assessment (MoCA), Beck Depression Inventory (BDI), and the State-Trait Anxiety Index (STAI). In univariate comparisons, GBA-PD had a greater prevalence of depression (33.3%) versus IPD (13.2%) (p<0.05). In regression models controlling for age, sex, disease duration, motor disability, and MoCA score, GBA-PD had an increased odds of depression (OR 3.66, 95% CI 1.13-11.8) (p=0.03). Post-hoc analysis stratified by sex showed that, among men, GBA-PD had a higher burden of trait anxiety and depression than IPD; this finding was sustained in multivariate models. Among women, GBA-PD did not confer greater psychiatric morbidity than IPD. These results suggest that GBA1 mutations confer greater risk of neuropsychiatric morbidity in PD, and that sex may affect this association.
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA; Department of Neurology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY, USA. Electronic address: matthew.c.swan@gmail.com.
authors: Matthew
authors: M
authors: Swan
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA.
authors: Nancy
authors: N
authors: Doan
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA.
authors: Robert A
authors: RA
authors: Ortega
authors: Department of Neurology, University of Virginia Health System, Charlottesville, VA, USA. Electronic address: MJB5T@hscmail.mcc.virginia.edu.
authors: Matthew
authors: M
authors: Barrett
authors: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address: bill.nichols@cchmc.org.
authors: William
authors: W
authors: Nichols
authors: Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. Electronic address: lozelius@partners.org.
authors: Laurie
authors: L
authors: Ozelius
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA.
authors: Jeannie
authors: J
authors: Soto-Valencia
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA.
authors: Sarah
authors: S
authors: Boschung
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA. Electronic address: Andres.DeikAcostaMadiedo@uphs.upenn.edu.
authors: Andres
authors: A
authors: Deik
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA. Electronic address: sarvaharini@gmail.com.
authors: Harini
authors: H
authors: Sarva
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA. Electronic address: jose.c.cabassa@gmail.com.
authors: Jose
authors: J
authors: Cabassa
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA.
authors: Brooke
authors: B
authors: Johannes
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA.
authors: Deborah
authors: D
authors: Raymond
authors: Department of Neurology and Psychiatry, Taub Institute, and Sergievsky Center, Columbia University, College of Physicians and Surgeons, New York, NY, USA. Electronic address: ksm1@columbia.edu.
authors: Karen
authors: K
authors: Marder
authors: Movement Disorders Unit, Neurological Institute, Tel Aviv Medical Center, Sackler School of Medicine, Sagol School of Neuroscience, Tel-Aviv University, Tel Aviv, Israel. Electronic address: nirg@tlvmc.gov.il.
authors: Nir
authors: N
authors: Giladi
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA.
authors: Joan
authors: J
authors: Miravite
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA.
authors: William
authors: W
authors: Severt
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA.
authors: Rivka
authors: R
authors: Sachdev
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA.
authors: Vicki
authors: V
authors: Shanker
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA.
authors: Susan
authors: S
authors: Bressman
authors: Department of Neurology, Mount Sinai Beth Israel, and Department of Neurology, Icahn School of Medicine, Mount Sinai, New York, NY, USA. Electronic address: RSaunder@chpnet.org.
authors: Rachel
authors: R
authors: Saunders-Pullman
mesh_terms: D000368:Aged; D001007:Anxiety / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D015897:Comorbidity; D003863:Depression / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D004185:Disability Evaluation; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005962:Glucosylceramidase; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009483:Neuropsychological Tests; D010300:Parkinson Disease / Q000150:complications / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology*; D011569:Psychiatric Status Rating Scales; D012720:Severity of Illness Index; D012737:Sex Factors; D062606:Tertiary Care Centers; D013997:Time Factors; D001617:beta-Glucosidase / Q000235:genetics*
chemical_list: D001617:beta-Glucosidase; C517537:GBA2 protein, human; D005962:Glucosylceramidase
keywords: Anxiety; Depression; GBA1; Glucocerebrosidase; Parkinson disease