致死性家族性失眠症
Fatal familial insomnia
定义 英文原文（暂无中文）
A rare inherited human prion disease characterized by adult onset of progressive disturbance and loss of circadian rhythms, dysautonomia with increased sympathetic activity, and cognitive impairment with fluctuating vigilance, impaired long-term memory, disorientation, and oneiric states. Motor disturbances include myoclonus, cerebellar ataxia, and pyramidal signs. The disease rapidly leads to a somnolent or comatose state and is typically fatal after 9 or 30 months on average (bimodal course). Neuropathologic examination shows marked neuronal loss and gliosis predominantly in thalamic nuclei and inferior olives, while deposition of abnormal prion protein may be relatively sparse.
别名
FFI
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 成年期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PRNP | prion protein (Kanno blood group) | Disease-causing germline mutation(s) in |
临床表型 34
极常见 99–80%4
- 自主神经系统生理功能异常 HP:0012332
- 痴呆 HP:0000726
- 失眠 HP:0100785
- 肌阵挛 HP:0001336
常见 79–30%21
- 锥体外系功能障碍 HP:0002071
- 焦虑 HP:0000739
- 共济失调 HP:0001251
- 思维过程异常缓慢 HP:0031843
- 认知功能损害 HP:0100543
- 抑郁 HP:0000716
- 构音障碍 HP:0001260
- 吞咽困难 HP:0002015
- 情绪不稳 HP:0000712
- 泪液分泌增加 HP:0009926
- 幻觉 HP:0000738
- 多汗症 HP:0000975
- 高血压 HP:0000822
- 喉喘鸣 HP:0006511
- 注意力调节减少 HP:5200044
- 短REM睡眠 HP:5200360
- 短时记忆障碍 HP:0033687
- 睡眠呼吸暂停 HP:0010535
- 睡眠-觉醒周期紊乱 HP:0006979
- 心动过速 HP:0001649
- FDG PET丘脑代谢减退 HP:0012660
偶见 29–5%8
- 松果体褪黑素分泌异常 HP:0012689
- 锥体束征 HP:0007256
- 便秘 HP:0002019
- 复视 HP:0000651
- 发热 HP:0001945
- 血皮质醇水平增加 HP:0003118
- 言语不能 HP:0002371
- 体重减轻 HP:0001824
排除 0%1
- 脑电图，棘慢复合波 HP:0010850
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）