Botez M I, Mayer P, Bellemare F, Couture J
Behavioral Neurology, Neurobiology, and Neuropsychology Unit, Hotel-Dieu Hospital, Montreal, Quebec, Canada.
Arch Neurol. 1997 Aug;54(8):1030-3. doi: 10.1001/archneur.1997.00550200086015.
Neurochemical disorders associated with spinocerebellar ataxias are multiple.
To use replacement and neuroprotective therapy in a case of severe respiratory failure in Friedreich ataxia. PATIENT AND TREATMENT: A 44-year-old man with severe Friedreich ataxia displayed arduous periodic breathing associated with minor desaturation as well as obstructive or mixed apneas associated with severe desaturation during the night. He was given oxitriptan (5-hydroxy-L-tryptophan) (1500 mg/d), thiamine hydrochloride (100 mg/d), and amantadine hydrochloride (100 mg/d). The first sleep study was conducted during the night before treatment, whereas the second was performed during the night after 9 months of treatment.
After treatment, striking clinical improvement of spastic dysphonia was accompanied by significant diminution in the time spent in periodic breathing and in the number of obstructive and mixed apneas during the night. Controlled studies are needed.
与脊髓小脑共济失调相关的神经化学紊乱是多方面的。
在一例弗里德赖希共济失调伴严重呼吸衰竭的病例中采用替代和神经保护治疗。患者与治疗：一名44岁的重度弗里德赖希共济失调男性患者夜间出现与轻微血氧饱和度降低相关的艰难周期性呼吸，以及与严重血氧饱和度降低相关的阻塞性或混合性呼吸暂停。给予其羟色氨酸（5-羟色氨酸）（1500毫克/天）、盐酸硫胺（100毫克/天）和盐酸金刚烷胺（100毫克/天）。第一次睡眠研究在治疗前一晚进行，而第二次在治疗9个月后的夜间进行。
治疗后，痉挛性发音障碍有显著临床改善，同时夜间周期性呼吸时间以及阻塞性和混合性呼吸暂停次数显著减少。尚需对照研究。
