J Neurol. 2009 Nov;256(11):1926-8. doi: 10.1007/s00415-009-5237-9. Epub 2009 Jul 31.
We report a rare association of spinocerebellar ataxia and motor neuron disease (MND) in a woman with genetically confirmed SCA2 who subsequently developed a rapidly progressive and fatal form of MND. Considering the rarity of these two neurological conditions, it is interesting to note that the concomitant occurrence of SCA mutations and MND have been previously observed in three cases: in one patient affected by SCA6 and two other cases with SCA2.
我们报告了一例罕见的 SCA2 相关的小脑脊髓联合变性和运动神经元病(MND),该患者基因确诊为 SCA2,并随后发展为快速进展和致命形式的 MND。鉴于这两种神经疾病的罕见性,有趣的是注意到 SCA 突变和 MND 的同时发生先前在三例中观察到:一例 SCA6 患者和另外两例 SCA2 患者。