肌萎缩侧索硬化症-帕金森症-痴呆综合征
Parkinson-dementia complex of Guam
ORPHA:90020疾病
定义 英文原文（暂无中文）
A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam.
别名
肌萎缩性脊髓侧索硬化-帕金森症-Guam痴呆综合征
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PARK7 | Parkinsonism associated deglycase | Major susceptibility factor in |
| TRPM7 | transient receptor potential cation channel subfamily M member 7 | Major susceptibility factor in |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）