Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients |
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| Affiliation: | 1. Department of Psychiatry, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates;2. University of New South Wales, Australia;3. Ingham Institute, School of Medicine, University of Western Sydney, Sydney, NSW, Australia;4. Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates;5. Al-Ain Hospital, Al-Ain, United Arab Emirates;1. Department of Medical Genetics, Jagiellonian University, Medical College, Krakow, Poland;2. School of Medicine in Katowice, Department of Paediatrics and Developmental Age Neurology, Medical University of Silesia, Katowice, Poland;3. Department of Pediatric Gastroenterology and Metabolism, Medical University, Poznan, Poland;4. Department of Pediatrics, Nutrition and Metabolic Diseases, The Children''s Memorial Health Institute, Warszawa, Poland;5. Metabolic Department, Polish Mother''s Health Memorial Institute, Lodz, Poland;6. Screening Department, Institute of Mother and Child, Warszawa, Poland;7. Department of Paediatric Endocrinology and Diabetology, Pomeranian Medical University in Szczecin, Poland |
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| Abstract: | AimParkinson disease (PD) is the common neurodegenerative disease with motor and numerous non-motor symptoms, including cognitive impairment. Mutation of glucocerebrosidase (GBA) gene is the most common genetic risk factor of sporadic PD. The aim of this study was to assess clinical features of PD associated with GBA mutation.MethodsOne hundred and thirty-eight PD patients were involved and examined by the movement disorder specialist using several scales including Unified Parkinson Disease Rating Scale (UPDRS) part II and III, Hoehn and Yahr (H&Y) staging, Mini-Mental State Examination (MMSE) and Hamilton Depression Scale (HDS). The exons 8 and 9 of GBA was sequenced and screened for variants.ResultsThe GBA variants were found in 16 (11.6%) PD patients: N370S mutation in 5 (3.6%) and T369M variant in 11 (7.9%). No significant differences between the group of mutation carriers and non-carriers were found in relation to clinical features except for dementia (MMSE score < 26) occurring more often in N370S mutation carriers (60.0% vs 19.6%, p = 0.03).ConclusionThe N370S GBA mutation is the risk factor for cognitive impairment in PD patients. |
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| Keywords: | Parkinson disease Glucocerebrosidase Parkinson's disease dementia |
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