Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers

NEUROBIOLOGY OF AGING

卷:58

Article

Moran, Eileen E.¹  Wang, Cuiling^2,3  Katz, Mindy²  Ozelius, Laurie⁴  Schwartz, Alison⁵  Pavlovic, Jelena²  Ortega, Roberto A.⁵  Lipton, Richard B.²  Zimmerman, Molly E.^1,2  Saunders-Pullman, Rachel^2,5 

[1] Fordham Univ, Dept Psychol, 441 E Fordham Rd, Bronx, NY 10458 USA

[2] Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10467 USA

[3] Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10467 USA

[4] Harvard Med Sch, Massachusetts Gen Hosp, Dept Neurol, Boston, MA USA

[5] Mt Sinai Beth Israel, Dept Neurol, New York, NY USA

关键词: Glucocerebrosidase;    GBA;    Dementia;    Aging;    Parkinson's disease;    Cognition;   

DOI  :  10.1016/j.neurobiolaging.2017.06.010

来源: Elsevier

【 摘 要 】

Mutations in the glucocerebrosidase (GBA) gene are a strong genetic risk factor for the development of Parkinson's disease and dementia with Lewy Bodies. However the penetrance of GBA mutations is low for these diseases in heterozygous carriers. The aim of this study was to examine the relationship between mutation status and cognitive and motor functioning in a sample of community-dwelling older adults. Using linear mixed effects models, we examined the effect of heterozygous mutation status on 736 community-dwelling older adults (>= 70 years) without dementia or Parkinson's disease assessed over an average of 6 years, 28 of whom had a single GBA mutation (primarily N370S). Verbal memory was measured using the picture version of the Free and Cued Selective Reminding Test, and carriers showed significantly (p < 0.05) greater decline in verbal memory over time. There was no difference in motor function or any other cognitive domain. Taken together, these results suggest an effect, but an overall limited burden, of harboring a single GBA mutation in aging mutation carriers. (c) 2017 Elsevier Inc. All rights reserved.

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