Highlights
- •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.
Abstract
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.
Abbreviations:
DRPLA (Dentatorubral-pallidoluysian atrophy), SCA (spinocerebellar ataxia), SSNA (skin sympathetic nerve activity), SSR (sympathetic skin response), SVR (skin vasomotor reflex), MSA (multiple system atrophy)Keywords
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Article info
Publication history
Accepted:
February 6,
2021
Received:
December 23,
2020
Identification
Copyright
© 2021 Elsevier Ltd. All rights reserved.
