Search for "protective" modifying variants/mechanisms in asymptomatic or very mild...
| Full text | |
| 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]
Total Authors: 12
|
| 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
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 |
| 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 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 |