The Spectrum of Neurological Manifestations Associated with Gaucher Disease
Abstract
:1. Introduction
2. Epidemiology
3. Genotype–Phenotype Correlation in Gaucher Disease
3.1. Patients with Type 1 Gaucher Disease and Parkinsonism
3.2. Type 2 (Acute) Neuronopathic Gaucher Disease
3.3. Type 3 (Subacute, Chronic) Neuronopathic Gaucher Disease
3.4. Overlapping Phenotypes
4. Neuropathology
5. Differential Diagnosis
Treatment Strategies for Neuronopathic Gaucher Disease (Table 2)
6. Ongoing Challenges
7. Conclusions
Acknowledgements
Conflicts of Interest
References
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No. | Disorders |
---|---|
1. | Niemann Pick disease |
2. | Tay–Sachs disease |
3. | Pompe disease |
4. | Chronic Myelogenous Leukemia |
5. | Acute Myeloid Leukemia |
6. | Chronic Lymphocytic Leukemia |
7. | Hodgkin Lymphoma |
8. | Multiple Myeloma |
9. | Idiopathic Thrombocytopenia |
Strategy | Route | Comments |
---|---|---|
ERT
| Intravenous |
|
SRT
| Oral |
|
Chaperones
| Oral |
|
Bone Marrow Transplant | - |
|
Gene Therapy | - |
|
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Roshan Lal, T.; Sidransky, E. The Spectrum of Neurological Manifestations Associated with Gaucher Disease. Diseases 2017, 5, 10. https://doi.org/10.3390/diseases5010010
Roshan Lal T, Sidransky E. The Spectrum of Neurological Manifestations Associated with Gaucher Disease. Diseases. 2017; 5(1):10. https://doi.org/10.3390/diseases5010010
Chicago/Turabian StyleRoshan Lal, Tamanna, and Ellen Sidransky. 2017. "The Spectrum of Neurological Manifestations Associated with Gaucher Disease" Diseases 5, no. 1: 10. https://doi.org/10.3390/diseases5010010