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

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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.

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Data Availability

Data related to the study are available.

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Acknowledgements

We are grateful to prof. Arndt Rolfs and prof. Peter Bauer (Centogene AG, Am Strande 7, 18057, Rostock, Germany), and Shire pharmaceutical for supporting GBA gene analysis in almost all cases.

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Authors and Affiliations

  1. Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy

    Giovanna De Michele, Gianluigi Rosario Palmieri, Chiara Pane, Carmen Diletta Paola Dello Iacovo, Nunzia Cuomo, Augusta Giglio, Natascia De Lucia, Tommasina Fico, Sandra Perillo, Giuseppe De Michele & Anna De Rosa

  2. Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Mondino Foundation, Pavia, Italy

    Enza Maria Valente & Ilaria Palmieri

  3. Department of Molecular Medicine, University of Pavia, Pavia, Italy

    Enza Maria Valente

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  1. Giovanna De Michele
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  2. Gianluigi Rosario Palmieri
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  3. Chiara Pane
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Correspondence to Anna De Rosa.

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De Michele, G., Palmieri, G.R., Pane, C. et al. Motor and non-motor features in Parkinson’s Disease patients carrying GBA gene mutations. Acta Neurol Belg 123, 221–226 (2023). https://doi.org/10.1007/s13760-022-02165-y

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  • DOI: https://doi.org/10.1007/s13760-022-02165-y

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