抗病毒感冒藥金剛烷胺居然對治療共濟失調有幫助

11-15

我在知乎上幫助過很多患者，但是這一次我真的是太吃驚了，不得不寫文章記錄一下這次的奇遇。患者得的病是ATM基因雙突變造成的遺傳性共濟失調毛細血管擴張症Ataxia-telangiectasia，目前無葯可醫，只有舒緩治療。

在家屬的請求下，我抱著僥倖心理去ClinicalTrials官網看看有哪些治療這個罕見遺傳病的臨床試驗，從已經做完的到正在招募的，這些年一共有25個臨床試驗記錄，不少是癌症相關。家屬關注的是改善孩子的共濟失調癥狀，我找到一個，但是使用的藥物居然是抗病毒感冒藥金剛烷胺，我瞬間石化。

結果已經發表在兒童神經學雜誌上，這古老的抗病毒藥居然還對共濟失調還略有幫助。

J Child Neurol. 2013 Feb;28(2):155-60. doi: 10.1177/0883073812441999. Epub 2012 May 1.

Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate.

Nissenkorn A1, Hassin-Baer S, Lerman SF, Levi YB, Tzadok M, Ben-Zeev B.

Author information

Abstract

Ataxia-telangiectasia is a cerebellar neurodegenerative disorder presenting with ataxia, chorea, myoclonus, and bradykinesia. Literature on treatment of movement disorders is scarce. We treated 17 children (aged 11.2 ± 3.9 years) for 8 weeks with the dopaminergic and anti-N-methyl-d-aspartate (NMDA) agent amantadine sulfate 6.3 ± 0.87 mg/kg/d. Ataxia was assessed by using the International Cooperative Ataxia Scale, parkinsonism by the Unified Parkinson Disease Rating Scale, and chorea/myoclonus by the Abnormal Involuntary Movement Scale. Responders were considered those patients who had at least 20% improvement in the summation of the 3 scales. Overall, 76.5% of patients were responders, with a mean 29.3% improvement. Ataxia, involuntary movements, and parkinsonism improved significantly (25.3%, 32.5%, and 29.5%, respectively); (P < .001, t test). Side effects were mild and transient, and they did not lead to drug discontinuation. Amantadine is a well-tolerated and effective treatment for motor symptoms in ataxia telangiectasia. Assessment of long-term effects and a double-blind study should follow.

TRIAL REGISTRATION:

http://ClinicalTrials.gov NCT00950196.

實在是太讓我吃驚了，特此寫文記錄一下。