Abstract | OBJECTIVE: METHODS: This is a retrospective observational study conducted at the Clinical Center of the NIH, Bethesda, MD, over a period of 10 years. The study included 19 patients with GD and parkinsonism. The severity of Gaucher and parkinsonian symptoms was determined from clinical data including physical, neurologic, pathologic, and neurocognitive evaluations, family histories, imaging studies, olfactory testing, and validated questionnaires. RESULTS: CONCLUSIONS: Appreciable clinical variation was seen in this cohort with GD and parkinsonism. Although some patients had early onset and prominent cognitive changes, others had a later, slower course, indicating that GBA1 mutations may not be a reliable prognostic indicator in Parkinson disease in clinical settings.
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Authors | Grisel Lopez, Jenny Kim, Edythe Wiggs, Dahima Cintron, Catherine Groden, Nahid Tayebi, Pramod K Mistry, Gregory M Pastores, Ari Zimran, Ozlem Goker-Alpan, Ellen Sidransky |
Journal | Neurology. Genetics
(Neurol Genet)
Vol. 2
Issue 2
Pg. e57
(Apr 2016)
ISSN: 2376-7839 [Print] United States |
PMID | 27123476
(Publication Type: Journal Article)
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