Klockgether T, Schöls L, Abele M, Bürk K, Topka H, Andres F, Amoiridis G, Lüdtke R, Riess O, Laccone F, Dichgans J
Department of Neurology, University of Tübingen, Germany.
J Neurol Neurosurg Psychiatry. 1999 Feb;66(2):222-4. doi: 10.1136/jnnp.66.2.222.
To identify determinants of peripheral involvement in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) the influence of CAG repeat length, age of onset, disease duration and age on the results of nerve conduction studies was analysed in 58 patients with SCA3/MJD. Patients with SCA3/MJD showed marked reduction of compound muscle action potential (CMAP) and sensory nerve action potential (SNAP) amplitudes indicating axonal neuropathy of both motor and sensory fibres. In addition, there was moderate slowing of nerve conduction suggestive of mild peripheral demyelination. Multivariate regression showed that CMAP and SNAP amplitudes decreased with age, but were not affected by CAG repeat length, age of onset, or disease duration. The age related decline of CMAP and SNAP amplitudes in SCA3/MJD was greater than in normal subjects. The data suggest that the degree of peripheral damage in SCA3/MJD does not depend on CAG repeat length, age of onset, or disease duration, but is mainly related to the time period over which the SCA3/MJD mutation exerts its effect.
为了确定脊髓小脑共济失调3型/马查多-约瑟夫病（SCA3/MJD）患者周围神经受累的决定因素，我们分析了58例SCA3/MJD患者的CAG重复序列长度、发病年龄、病程和年龄对神经传导研究结果的影响。SCA3/MJD患者的复合肌肉动作电位（CMAP）和感觉神经动作电位（SNAP）幅度显著降低，提示运动和感觉纤维均存在轴索性神经病变。此外，神经传导有中度减慢，提示轻度周围神经脱髓鞘。多因素回归分析显示，CMAP和SNAP幅度随年龄下降，但不受CAG重复序列长度、发病年龄或病程的影响。SCA3/MJD患者CMAP和SNAP幅度随年龄的下降幅度大于正常受试者。数据表明，SCA3/MJD患者周围神经损伤程度不取决于CAG重复序列长度、发病年龄或病程，而主要与SCA3/MJD突变发挥作用的时间段有关。
