Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series
| Autor: | Emory Ryan, Dominick Amato, Jennifer MacKenzie, Grisel Lopez, Ellen Sidransky |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
education.field_of_study Pediatrics medicine.medical_specialty Parkinson's disease business.industry Parkinsonism Neurodegeneration Population Disease 030105 genetics & heredity medicine.disease nervous system diseases 03 medical and health sciences 0302 clinical medicine Genotype-phenotype distinction Neurology medicine Case Series In patient Neurology (clinical) Cognitive decline education business 030217 neurology & neurosurgery |
| Zdroj: | Mov Disord Clin Pract |
| ISSN: | 2330-1619 |
| Popis: | Background The link between Parkinson's disease (PD), the second most common neurodegenerative disorder, and nonneuronopathic Gaucher disease (GD) is well established. Currently, PD is primarily associated with nonneuronopathic GD; however, with currently available treatments, patients with chronic neuronopathic GD, who historically had a shortened life span, are now living well into their 50s and beyond. Cases We highlight 4 patients with chronic neuronopathic GD with parkinsonian features, describing their GD genotype and phenotype as well as the presentation and progression of their parkinsonism. Symptoms presented in their fourth or fifth decade of life, and include unilateral bradykinesia and/or tremor. Of the patients, 3 had cognitive impairment. The fourth patient has not shown cognitive decline 6 years after PD onset. Conclusion This small series highlights that PD is not exclusively associated with nonneuronopathic GD and that as the chronic neuronopathic GD population ages, the clinical spectrum and heterogeneity of neurological manifestations may include parkinsonism. |
| Databáze: | OpenAIRE |
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