Namekawa M, Takiyama Y, Ando Y, Sakoe K, Muramatsu S I, Fujimoto K I, Nishizawa M, Nakano I
Department of Neurology, Jichi Medical School, Tochigi 329-0498, Japan.
J Neurol Sci. 2001 Jun 15;187(1-2):103-6. doi: 10.1016/s0022-510x(01)00527-5.
We describe the unusual case of a 51-year-old woman with spinocerebellar ataxia type 1 (SCA1) who showed choreiform movements in addition to cerebellar ataxia. To date, extrapyramidal signs including involuntary movements have been rarely reported in SCA1. Surface electromyogram in our patient revealed grouped discharges whose duration was longer than that of chorea observed in HD, indicating that the involuntary movements represented choreoathetosis rather than pure chorea. These choreiform movements have not been seen in non-hereditary spinocerebellar ataxia. Therefore, if "sporadic" cases of cerebellar ataxia show such movements, the possibility of genetic origin of the ataxia is high and a surveillance of various forms of hereditary spinocerebellar ataxia including SCA1 is required.
我们描述了一例不寻常的病例，一名51岁患有1型脊髓小脑共济失调（SCA1）的女性，除小脑共济失调外还表现出舞蹈样动作。迄今为止，SCA1中很少有包括不自主运动在内的锥体外系体征的报道。我们患者的表面肌电图显示成组放电，其持续时间比在亨廷顿舞蹈症（HD）中观察到的舞蹈症更长，表明这些不自主运动表现为舞蹈手足徐动症而非单纯的舞蹈症。这些舞蹈样动作在非遗传性脊髓小脑共济失调中未见。因此，如果小脑共济失调的“散发性”病例出现此类动作，共济失调的遗传起源可能性很高，需要对包括SCA1在内的各种形式的遗传性脊髓小脑共济失调进行监测。
