Department of Neurology, University of Yamanashi, Yamanashi, Japan.
J Clin Neurosci. 2021 May;87:80-83. doi: 10.1016/j.jocn.2021.02.005. Epub 2021 Mar 16.
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by slowly progressive cerebellar ataxia. Previously, autonomic symptoms or dysfunction have not been reported. To evaluate subclinical autonomic dysfunction regarding thermoregulatory function in SCA, we recorded sympathetic outflow to skin in a DRPLA patient confirmed by genetic analysis. We recorded skin sympathetic nerve activity (SSNA), which was elicited and recorded by using the microneurographical technique. In results, the resting frequency of SSNA bursts was very low (8.2 ± 0.4 bursts/min [institutional normal range: 20.8 ± 2.4 bursts/min]). However, acceleration of SSNA bursts induced by mental arithmetic stress was confirmed. The amplitude of reflex bursts induced by electrical stimuli was slightly low (9.6 ± 1.6 μV [institutional normal range: 10.9 ± 2.2 μV]), and the reflex latency was mildly prolonged (872 ± 23.7 msec [institutional normal range: 761.9 ± 51.7 msec]). These results suggest potentially central autonomic dysfunction in this patient with DRPLA. To our knowledge, this is the first report to record SSNA and confirm subclinical autonomic dysfunction in a case with DRPLA.
齿状核-红核-苍白球-路易体萎缩症（DRPLA）是一种常染色体显性神经退行性疾病，其特征为进行性小脑共济失调。先前，尚未报道过自主症状或功能障碍。为了评估 SCA 中热调节功能的亚临床自主神经功能障碍，我们通过遗传分析对一名经确认的 DRPLA 患者记录了皮肤交感神经输出。我们记录了皮肤交感神经活动（SSNA），这是通过微神经记录技术诱发和记录的。结果，SSNA 爆发的静息频率非常低（8.2±0.4 爆发/分钟[机构正常范围：20.8±2.4 爆发/分钟]）。然而，确认了通过心算应激引起的 SSNA 爆发加速。电刺激引起的反射爆发的振幅略低（9.6±1.6μV[机构正常范围：10.9±2.2μV]），反射潜伏期轻度延长（872±23.7msec[机构正常范围：761.9±51.7msec]）。这些结果表明该 DRPLA 患者存在潜在的中枢自主神经功能障碍。据我们所知，这是首例记录 SSNA 并确认 DRPLA 病例亚临床自主神经功能障碍的报告。
