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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Autonomic dysfunction in hereditary spastic paraplegia type 4

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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]
Total Authors: 12
[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
Total Affiliations: 5
Document type: Journal article
Source: EUROPEAN JOURNAL OF NEUROLOGY; v. 26, n. 4, p. 687-693, APR 2019.
Web of Science Citations: 0

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 type: 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 type: Research Grants - Young Investigators Grants