Autonomic dysfunction in hereditary spastic paraplegia type 4

Author(s):Show less -

Gonzalez-Salazar, C. ^[1] ; Takazaki, K. A. G. ^[1] ; Martinez, A. R. M. ^[1] ; Pimentel-Silva, L. R. ^[1] ; Jacinto-Scudeiro, L. A. ^{[2, 3]} ; Nakagawa, E. Y. ^[4] ; Murakami, C. E. Fujiwara ^[4] ; Saute, J. A. M. ^{[2, 3]} ; Pedroso, J. L. ^[5] ; Barsottini, O. G. P. ^[5] ; Teive, H. A. G. ^[4] ; Franca, Jr., M. C. ^[1]

Affiliation

^[1] Univ Estadual Campinas, Sch Med Sci, Dept Neurol, UNICAMP, Campinas, SP - Brazil

^[2] Hosp Clin Porto Alegre, Med Genet & Neurol Serv, Porto Alegre, RS - Brazil

^[3] Univ Fed Rio Grande do Sul, Dept Internal Med & Sci, Porto Alegre, RS - Brazil

^[4] Univ Fed Parana, Dept Internal Med, Neurol Serv, Curitiba, Parana - Brazil

^[5] Fed Univ Sao Paulo UNIFESP, Dept Neurol, Sao Paulo - Brazil

• Document type: Journal article
• Source: EUROPEAN JOURNAL OF NEUROLOGY; v. 26, n. 4, p. 687-693, APR 2019.
• Web of Science Citations: 0

Abstract

Background and purpose SPAST mutations are the most common cause of hereditary spastic paraplegia (SPG4-HSP), which is characterized by progressive lower limb weakness, spasticity and hyperreflexia. There are few studies about non-motor manifestations in this disease and none about autonomic involvement. Therefore, the aim was to determine the frequency and pattern of autonomic complaints in patients with SPG4-HSP, as well as to determine the clinical relevance and the possible factors associated with these manifestations. Methods Thirty-four molecularly confirmed SPG4 patients were recruited in a multicenter cross-sectional study, of whom 26 underwent detailed neurophysiological testing (heart rate variability, sympathetic skin response and the Quantitative Sudomotor Axonal Reflex Test). The Scales for Outcomes in Parkinson's Disease - Autonomic Questionnaire (SCOPA-AUT) was applied to quantify the severity of autonomic symptoms. Results were compared with 44 age- and gender-matched healthy controls using non-parametric tests. P values Results In the SPG4-HSP group, there were 18 men with a mean age of 47.7 +/- 12.6 years. SCOPA-AUT scores were similar between patients and controls (P = 0.238). Only the urinary domain subscore was significantly higher amongst patients (4 vs. 2.5, P = 0.05). Absent sympathetic skin response in the hands and feet was more frequent amongst patients (20% vs. 0%, P < 0.001, and 64% vs. 0%, P = 0.006, respectively). Quantitative Sudomotor Axonal Reflex Test responses were also smaller throughout all recording regions in the SPG4-HSP group. Conclusion Our results indicate that SPG4-HSP patients have sudomotor dysfunction caused by damaged small post-ganglionic cholinergic fibers. Damage in SPG4-HSP extends to the peripheral nervous system. (AU)

• FAPESP's process: 13/07559-3 - BRAINN - The Brazilian Institute of Neuroscience and Neurotechnology
• Grantee: Fernando Cendes
• Support Opportunities: Research Grants - Research, Innovation and Dissemination Centers - RIDC
• FAPESP's process: 13/01766-7 - Sensory neuronopathies: investigation of new diagnostic methods, mechanisms of the disease and therapeutic strategies
• Grantee: Marcondes Cavalcante Franca Junior
• Support Opportunities: Research Grants - Young Investigators Grants