Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease
Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease
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DOI：
10.3988/jcn.2013.9.4.274
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发表时间：
2013-10-01
影响因子：
3.1
通讯作者：
Cho, Jin Whan
中科院分区：
文献类型：
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作者：
Kim, Ji Sun;Son, Tae Ok;Cho, Jin Whan
研究背景脊髓小脑共济失调（Spinocerebellar ataxia，SCA）8型（SCA 8）是一种遗传性神经退行性疾病，由位于13 q21上的CTA/CTG三联重复序列扩增引起。SCA 8的现象是相对不同的相比，其他类型的SCAs和它的频谱是没有很好地established.Case报告两个新发现的SCA 8与非共济失调表型和不寻常的临床表现，如多巴胺能治疗反应性帕金森病和肌萎缩性侧索硬化症（ALS）的情况下，在此描述。家族A表现出良好的多巴胺能治疗反应性帕金森综合征作为初始表现，并在病程期间发展为轻度小脑共济失调伴其他运动，包括肌张力障碍步态和躯干异常振荡运动。家系B的先证者在脑MRI上表现为可能的ALS伴小脑萎缩，有家族史（一个兄弟有典型的小脑共济失调），并有SCA 8的遗传学证实。结论非共济失调表型可能是由SCA 8基因突变引起的，该突变可能影响小脑以外的神经元。
Background Spinocerebellar ataxia (SCA) type 8 (SCA8) is an inherited neurodegenerative disorder caused by the expansion of untranslated CTA/CTG triplet repeats on 13q21. The phenomenology of SCA8 is relatively varied when compared to the other types of SCAs and its spectrum is not well established.Case Report Two newly detected cases of SCA8 with the nonataxic phenotype and unusual clinical manifestations such as dopaminergic-treatment-responsive parkinsonism and amyotrophic lateral sclerosis (ALS) are described herein. Family A expressed good dopaminergic treatment-responsive parkinsonism as an initial manifestation and developed mild cerebellar ataxia with additional movements, including dystonic gait and unusual oscillatory movement of the trunk, during the disease course. The proband of family B presented as probable ALS with cerebellar atrophy on brain MRI, with a positive family history (a brother with typical cerebellar ataxia) and genetic confirmation for SCA8.Conclusions Our findings support that the non-ataxic phenotypes could be caused by a mutation of the SCA8 locus which might affect neurons other than the cerebellum.