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Lumbar puncture alleviates chorea in a patient with Huntington's disease and normal pressure hydrocephalus.腰椎穿刺缓解亨廷顿舞蹈病伴正常压力脑积水患者的舞蹈症。
Behav Neurol. 2009;21(3):193-5. doi: 10.3233/BEN-2009-0239.
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Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next.正常压力脑积水的遗传风险因素:我们所知与后续方向
Mov Disord. 2025 Jul;40(7):1233-1247. doi: 10.1002/mds.30206. Epub 2025 Apr 23.
2
A case of normal pressure hydrocephalus presenting as ventriculoperitoneal shunt-responsive dementia and choreodystonia.一例表现为脑室腹腔分流术反应性痴呆和舞蹈性肌张力障碍的正常压力脑积水病例。
Neurol Sci. 2018 Sep;39(9):1643-1646. doi: 10.1007/s10072-018-3451-x. Epub 2018 May 24.

腰椎穿刺缓解亨廷顿舞蹈病伴正常压力脑积水患者的舞蹈症。

Lumbar puncture alleviates chorea in a patient with Huntington's disease and normal pressure hydrocephalus.

机构信息

Department of Neurology, Baylor College of Medicine, Houston, TX, USA.

出版信息

Behav Neurol. 2009;21(3):193-5. doi: 10.3233/BEN-2009-0239.

DOI:10.3233/BEN-2009-0239
PMID:20178144
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5444282/
Abstract

A 44-year-old African-American male was admitted to our hospital after a suicide attempt. He had depression, poor cognitive function, choreiform movements, difficulty pronouncing words, and difficulty walking. His symptoms had worsened markedly over several months. Chorea lead to genetic testing that confirmed a diagnosis of Huntington Disease (HD). A CT scan of the head showed wider ventricles than is typical of HD. The head CT and gait change suggested normal pressure hydrocephalus (NPH). Lumbar puncture (LP) led to improved neuropsychologic test scores and walking thereby supporting the diagnosis of NPH. Surprisingly, the LP also led to an 80% improvement of chorea. There are two other reports of an association between HD and NPH. NPH should be considered in HD patients with atypical symptoms, such as the inability to walk or rapid progression, as its treatment may lead to improved cognition, gait, and chorea.

摘要

一位 44 岁的非裔美国男性因自杀未遂而入院。他患有抑郁症、认知功能差、舞蹈样运动、言语困难和行走困难。他的症状在几个月内明显恶化。舞蹈样运动导致基因检测,确诊为亨廷顿病(HD)。头部 CT 扫描显示脑室比典型的 HD 更宽。头部 CT 和步态改变提示正常压力脑积水(NPH)。腰椎穿刺(LP)导致神经心理测试评分和行走能力提高,从而支持 NPH 的诊断。令人惊讶的是,LP 还使舞蹈样运动改善了 80%。还有另外两例报道称 HD 与 NPH 之间存在关联。对于出现步态异常或病情快速进展等不典型症状的 HD 患者,应考虑 NPH,因为其治疗可能会改善认知、步态和舞蹈样运动。