Avner Thaler1, Tanya Gurevich2, Anat Bar Shira3, Mali Gana Weisz3, Elissa Ash4, Tamara Shiner4, Avi Orr-Urtreger5, Nir Giladi2, Anat Mirelman2. 1. Movement Disorders Unit, Neurological Institute, Tel-Aviv Sourasky Medical Center, Israel; Sackler School of Medicine, Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel. Electronic address: avnerth@gmail.com. 2. Movement Disorders Unit, Neurological Institute, Tel-Aviv Sourasky Medical Center, Israel; Sackler School of Medicine, Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel. 3. Genetic Institute, Tel Aviv Sourasky Medical Center, Israel. 4. Memory and Attention Disorders Center, Neurological Institute, Tel Aviv Sourasky Medical Center Israel. 5. Sackler School of Medicine, Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel; Genetic Institute, Tel Aviv Sourasky Medical Center, Israel.
Abstract
OBJECTIVE: Mutations in the GBA gene are associated with Parkinson's disease (PD). A definite description of the clinical characteristics of PD patients who are compound heterozygotes or homozygotes for mutations in the GBA gene (GD-PD) requires further elucidation. METHODS: We assessed motor, cognitive, olfactory and autonomic functions as well as demographic data and medical history in a cohort of Ashkenazi Jewish PD patients who were screened for seven common mutations in the GBA gene. We then compared three groups of patients (matched for age and disease duration) who were distinguished by their GBA mutation status, idiopathic PD (iPD), GBA heterozygote PD (GBA-PD) and GD-PD. RESULTS: Out of a total of 1050 AJ PD patients screened, 12 were found to be either homozygotes or compound heterozygotes for mutations in the GBA gene. These patients had an earlier age of onset, more severe motor impairment, poorer cognition and lower olfactory scores. They also had a higher prevalence of REM sleep behavior disorder and higher frequencies of hallucinations compared to both GBA-PD and iPD. CONCLUSIONS: The severity of PD phenotype is related to the burden of GBA mutations with GD-PD patients manifesting a more severe phenotype.
OBJECTIVE: Mutations in the GBA gene are associated with Parkinson's disease (PD). A definite description of the clinical characteristics of PDpatients who are compound heterozygotes or homozygotes for mutations in the GBA gene (GD-PD) requires further elucidation. METHODS: We assessed motor, cognitive, olfactory and autonomic functions as well as demographic data and medical history in a cohort of Ashkenazi Jewish PDpatients who were screened for seven common mutations in the GBA gene. We then compared three groups of patients (matched for age and disease duration) who were distinguished by their GBA mutation status, idiopathic PD (iPD), GBA heterozygote PD (GBA-PD) and GD-PD. RESULTS: Out of a total of 1050 AJ PDpatients screened, 12 were found to be either homozygotes or compound heterozygotes for mutations in the GBA gene. These patients had an earlier age of onset, more severe motor impairment, poorer cognition and lower olfactory scores. They also had a higher prevalence of REM sleep behavior disorder and higher frequencies of hallucinations compared to both GBA-PD and iPD. CONCLUSIONS: The severity of PD phenotype is related to the burden of GBA mutations with GD-PDpatients manifesting a more severe phenotype.
Authors: Nurit Omer; Nir Giladi; Tanya Gurevich; Anat Bar-Shira; Mali Gana-Weisz; Tal Glinka; Orly Goldstein; Meir Kestenbaum; Jesse M Cedarbaum; Omar S Mabrouk; Kyle B Fraser; Julia C Shirvan; Avi Orr-Urtreger; Anat Mirelman; Avner Thaler Journal: Mov Disord Date: 2021-09-22 Impact factor: 9.698
Authors: Iria G Dopeso-Reyes; Diego Sucunza; Alberto J Rico; Diego Pignataro; David Marín-Ramos; Elvira Roda; Ana I Rodríguez-Pérez; José L Labandeira-García; José L Lanciego Journal: Brain Struct Funct Date: 2017-08-23 Impact factor: 3.270
Authors: Erin K Donahue; Amjad Murdos; Michael W Jakowec; Nasim Sheikh-Bahaei; Arthur W Toga; Giselle M Petzinger; Farshid Sepehrband Journal: Mov Disord Date: 2021-01-20 Impact factor: 10.338