Sympathetic nerve outflow to skin in a case with dentatorubral-pallidoluysian atrophy


      • Various types of cerebellar degeneration syndrome are often complicated with autonomic symptoms or dysfunction.
      • Skin vasomotor function including sympathetic nerve activity (SSNA) was not evaluated in DRPLA.
      • The resting SSNA was lower and the latency of SSNA reflex bursts prolonged in a patient with DRPLA.
      • This is the first report to record SSNA and confirm subclinical autonomic dysfunction in a case with DRPLA.


      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.


      DRPLA (Dentatorubral-pallidoluysian atrophy), SCA (spinocerebellar ataxia), SSNA (skin sympathetic nerve activity), SSR (sympathetic skin response), SVR (skin vasomotor reflex), MSA (multiple system atrophy)


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