Autosomal dominant cerebellar ataxia type I -: Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3
Autosomal dominant cerebellar ataxia type I -: Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3
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DOI：
10.1093/brain/120.12.2141
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发表时间：
1997-12-01
期刊：
影响因子：
14.5
通讯作者：
Klockgether, T
中科院分区：
文献类型：
--
作者：
Abele, M;Bürk, K;Klockgether, T
对41例常染色体显性遗传性小脑性共济失调I型(ADCA-I)患者进行了脊髓小脑性共济失调1、2或3型(SCA1、-2或-3)遗传灶的分子遗传分配、临床检查、神经传导和诱发电位检查，并进行了基因-表型相关分析。SCA1组锥体束体征、视盘苍白和吞咽困难的发生率高于SCA2和SCA3组，而复视发生率较低。几乎所有SCAI患者经颅磁刺激后的视觉诱发电位和运动诱发电位均出现异常，但仅有少数SCA2和SCA3患者出现异常。相比之下，大多数患者的体感诱发电位延迟或缺失，两种突变之间没有显着差异。在大约一半的患者中发现了脑干听觉诱发电位的异常，而不考虑潜在的突变。此外，感觉神经动作电位降低，这表明在所有三个突变中都发现了感觉神经轴突病变。这些发现提供了电生理学证据，表明锥体通路和视觉通路在SCA1、SCA2和SCA3患者中受到不同程度的影响。
Forty-one patients suffering from autosomal dominant cerebellar ataxia type I (ADCA-I) were subjected to a genotype-phenotype correlation analysis using molecular genetic assignment to the spinocerebellar ataxia type 1, 2 or 3 (SCA1, -2 or -3) genetic focus, clinical examination and nerve conduction as well as evoked potential studies. Pyramidal tract signs, pale discs, and dysphagia were more frequent in SCA1 compared with SCA2 and SCA3 patients, while double vision occurred less frequently. Visual evoked potentials and motor evoked potentials following transcranial magnetic stimulation were abnormal in almost all SCAI patients, but only in a minority of SCA2 and SCA3 patients. In contrast somatosensory evoked potentials were delayed or absent in the majority of patients with no significant differences between the mutations. Abnormalities of brainstem auditory evoked potentials were found in about half of the patients irrespective of the underlying mutation. In addition, reduced sensory nerve action potentials, suggesting sensory axonal neuropathy were found in all three mutations. These findings provide electrophysiological evidence that pyramidal and visual pathways are differentially affected in SCA1, SCA2 and SCA3 patients.