Autonomic function in sporadic and familial ALS type 8

Melina Pazian Martins; Carelis González-Salazar; Fabricio Diniz de Lima; Tauana Bernardes Leoni; Alberto R M Martinez; João Pedro Nunes Gonçalves; Anamarli Nucci; Marcondes Cavalcante França Jr

doi:10.1016/j.clinph.2023.08.006

Autonomic function in sporadic and familial ALS type 8

Clin Neurophysiol. 2023 Nov:155:68-74. doi: 10.1016/j.clinph.2023.08.006. Epub 2023 Aug 20.

Authors

Melina Pazian Martins¹, Carelis González-Salazar¹, Fabricio Diniz de Lima¹, Tauana Bernardes Leoni¹, Alberto R M Martinez¹, João Pedro Nunes Gonçalves¹, Anamarli Nucci¹, Marcondes Cavalcante França Jr²

Affiliations

¹ Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
² Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil. Electronic address: mcfjr@unicamp.br.

PMID: 37769591
DOI: 10.1016/j.clinph.2023.08.006

Abstract

Objective: To characterize and compare autonomic function in patients with sporadic (sALS) and familial ALS type 8 (fALS8).

Methods: We selected 11 patients with sALS (7 men), 14 with fALS8 (8 men) and 26 controls (15 men). All groups were gender and age-matched. For each subject, Scale for Outcomes in Parkinson's Disease for Autonomic Symptoms (SCOPA-AUT) was applied and data from heart rate variability, Quantitative Sudomotor Axon Reflex Test (QSART) and skin sympathetic response (SSR) were collected. These data were compared across groups using nonparametric tests. P-values < 0.05 were considered significant.

Results: SCOPA-AUT revealed predominant clinical complaints in thermoregulatory, pupillomotor and sexual domains in fALS8 relative to sALS as well as controls. Neurophysiological tests demonstrated significant differences in Valsalva ratio, Expiratory:Inspiratory index and RR minimum values in both ALS groups relative to controls. Sudomotor dysfunction was also observed in sALS and fALS8 groups, as shown by reduced medial forearm and foot QSART volumes and absence of SSR in lower limbs.

Conclusions: Dysautonomia - cardiac and sudomotor - is part of the phenotype in sALS and fALS8. The profile of autonomic symptoms, however, is different in each group.

Significance: Patients with fALS8 and sALS have autonomic dysfunction involving both sympathetic and parasympathetic divisions.

Keywords: Amyotrophic Lateral Sclerosis; Dysautonomia; Motor Neuron Disease; genetics, VAPB.