Costantini Antonio, Pala Maria Immacolata, Colangeli Marco, Savelli Serena
Department of Neurological Rehabilitation, Clinic Villa Immacolata, Viterbo, Italy.
BMJ Case Rep. 2013 Jan 10;2013:bcr2012007302. doi: 10.1136/bcr-2012-007302.
Spinocerebellar ataxia type 2 is a genetic disorder characterised by the degeneration of the cerebellum, its connections and degeneration in brainstem areas. Some observations indicate that high doses of thiamine may lead to the partial regression of the symptoms. One patient was under rehabilitative treatment from June 2011 to July 2012. We assessed the level of fatigue using the Fatigue Severity Scale. We performed the Scale for Assessment and Rating of Ataxia and Robertson Profile for Dysarthria (Italian version). Thiamine and thiamine pyrophosphate levels in the blood were within the healthy reference range. We started a parenteral therapy with 100 mg intramuscular every 7 days. The therapy led to a partial regression of fatigue within a few days. After about 3 months, a discreet improvement of motor symptoms especially in speech was observed. The symptoms could derive from a focal thiamine deficiency that could determine a selective neuronal loss.
2型脊髓小脑共济失调是一种遗传性疾病，其特征是小脑及其连接部位以及脑干区域发生退化。一些观察结果表明，高剂量硫胺素可能会导致症状部分消退。一名患者在2011年6月至2012年7月期间接受康复治疗。我们使用疲劳严重程度量表评估疲劳程度。我们进行了共济失调评估和评分量表以及构音障碍罗伯逊量表（意大利语版）。血液中的硫胺素和硫胺素焦磷酸水平在健康参考范围内。我们开始每隔7天进行一次100毫克的肌肉注射肠外治疗。该治疗在几天内导致疲劳部分消退。大约3个月后，观察到运动症状有明显改善，尤其是在言语方面。这些症状可能源于局部硫胺素缺乏，这可能导致选择性神经元丢失。
