M Zimmermann1,2, A Gaenslen1,2, K Prahl1, K Srulijes1,2, A-K Hauser1,2, C Schulte1,2, I Csoti3, D Berg1,4, K Brockmann1,2. 1. Department of Neurodegeneration, Hertie-Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany. 2. German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany. 3. Gertrudis Klinik, Leun-Biskirchen, Germany. 4. Department of Neurology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Abstract
BACKGROUND: Prevalence and time of occurrence of prodromal symptoms of Parkinson's disease (PD) in relation to the onset of classical motor manifestation varies between patients. Possible modifying factors might be different genetic architectures predisposing to varying burden of manifestations. OBJECTIVES: To characterize the prodromal phase in PD patients with heterozygous mutations in the GBA gene compared to PD patients without GBA mutation. METHODS: In a retrospective design, 151 participants [47 PD patients carrying a GBA mutation (PDGBA ), 52 idiopathic PD patients (PDidiopathic ), 52 healthy elderly (CON)] underwent a validated structured interview designed to assess prevalence and time of occurrence of prodromal symptoms. RESULTS: PDGBA showed a higher prevalence of prodromal symptoms and almost simultaneous occurrence of non-motor and early motor symptoms shortly before PD diagnosis whereas PDidiopathic reported a longer prodromal phase starting with non-motor symptoms. CONCLUSION: The short and severe prodromal phase in PDGBA might call for shorter assessment intervals in yet premanifest GBA mutation carriers.
BACKGROUND: Prevalence and time of occurrence of prodromal symptoms of Parkinson's disease (PD) in relation to the onset of classical motor manifestation varies between patients. Possible modifying factors might be different genetic architectures predisposing to varying burden of manifestations. OBJECTIVES: To characterize the prodromal phase in PDpatients with heterozygous mutations in the GBA gene compared to PDpatients without GBA mutation. METHODS: In a retrospective design, 151 participants [47 PDpatients carrying a GBA mutation (PDGBA ), 52 idiopathic PDpatients (PDidiopathic ), 52 healthy elderly (CON)] underwent a validated structured interview designed to assess prevalence and time of occurrence of prodromal symptoms. RESULTS:PDGBA showed a higher prevalence of prodromal symptoms and almost simultaneous occurrence of non-motor and early motor symptoms shortly before PD diagnosis whereas PDidiopathic reported a longer prodromal phase starting with non-motor symptoms. CONCLUSION: The short and severe prodromal phase in PDGBA might call for shorter assessment intervals in yet premanifest GBA mutation carriers.
Authors: Daniela Berg; Per Borghammer; Seyed-Mohammad Fereshtehnejad; Sebastian Heinzel; Jacob Horsager; Eva Schaeffer; Ronald B Postuma Journal: Nat Rev Neurol Date: 2021-04-20 Impact factor: 42.937
Authors: Iris van der Lijn; Gera A de Haan; Famke Huizinga; Fleur E van der Feen; A Wijnand F Rutgers; Catherina Stellingwerf; Teus van Laar; Joost Heutink Journal: J Parkinsons Dis Date: 2022 Impact factor: 5.520