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. 2023 Feb;123(1):221-226.
doi: 10.1007/s13760-022-02165-y. Epub 2023 Jan 7.

Motor and non-motor features in Parkinson's Disease patients carrying GBA gene mutations

Giovanna De Michele  1 , Gianluigi Rosario Palmieri  1 , Chiara Pane  1 , Enza Maria Valente  2   3 , Ilaria Palmieri  2 , Carmen Diletta Paola Dello Iacovo  1 , Nunzia Cuomo  1 , Augusta Giglio  1 , Natascia De Lucia  1 , Tommasina Fico  1 , Sandra Perillo  1 , Giuseppe De Michele  1 , Anna De Rosa  4
Affiliations

Motor and non-motor features in Parkinson's Disease patients carrying GBA gene mutations

Giovanna De Michele et al. Acta Neurol Belg. 2023 Feb.

Abstract

Background: Mutations of the Glucocerebrosidase (GBA) gene are the most common genetic risk factor yet discovered for Parkinson's Disease (PD), being found in about 5-14% of Caucasian patients.

Objective: We aimed to assess motor and non-motor symptoms (NMS) in patients with GBA-related PD (GBA-PD) in comparison with idiopathic PD (iPD) subjects using standardized and validated scales.

Methods: Eleven (4 M, 7 F) patients with GBA-PD and 22 iPD patients, selected from the same cohort and matched for gender, age, and disease duration, were enrolled. The disease severity was assessed by Unified Parkinson's Disease Rating Scale-section III, gait disorder and falls by Freezing of Gait Questionnaire, and motor fluctuations by Wearing off questionnaire. NMS were evaluated using the following scales: Mini-Mental State Examination and extended neuropsychological battery, if required, Non-Motor Symptoms Scale, SCOPA-AUT Questionnaire, Apathy Evaluation Scale, Beck Depression Inventory, Epworth Sleepiness Scale, Restless Legs Syndrome Rating Scale, REM Sleep Behavior Disorder Screening Questionnaire, and Questionnaire for Impulsive-Compulsive Disorders in Parkinson's disease.

Results: GBA-PD patients showed a more severe and rapidly progressive disease, and more frequent positive family history for PD, akinetic-rigid phenotype, postural instability, dementia, and psychosis in comparison to iPD. Two of three subjects carrying L444P mutation presented with early dementia. We also found a higher occurrence of fatigue, diurnal sleepiness, and intolerance to heat/cold in the carriers group.

Conclusions: Our results confirm that NMS and a more severe and faster disease course more frequently occur among GBA-PD patients in comparison to iPD.

Keywords: Dementia; GBA gene; Non-motor symptoms; Parkinson’ s disease; Psychosis.

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