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Lewy body dementia
Summary
- Synonym
-
- Dementia with Lewy bodies
- Diffuse Lewy body disease
- Lewy body disease
- Senile dementia of the Lewy body type
- Definition
- A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.
- Super Class
- dementia
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 3480 | IGF1R | insulin like growth factor 1 receptor | |
| 4843 | NOS2 | nitric oxide synthase 2 | |
| 5653 | KLK6 | kallikrein related peptidase 6 | |
| 6620 | SNCB | synuclein beta | |
| 6622 | SNCA | synuclein alpha | |
| 6623 | SNCG | synuclein gamma |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O76070 | Gamma-synuclein | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P08069 | Insulin-like growth factor 1 receptor | |
| P35228 | Nitric oxide synthase, inducible | |
| P37840 | Alpha-synuclein | |
| Q16143 | Beta-synuclein | |
| Q92876 | Kallikrein-6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002367 | Visual hallucination |
| HP:0000746 | Delusion |
| HP:0100315 | Lewy bodies |
| HP:0000726 | Dementia |
| HP:0007159 | Fluctuations in consciousness |
| HP:0001300 | Parkinsonism |
