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|Title:||Autonomic dysfunction in hereditary spastic paraplegia type 4|
Takazaki, K. A. G.
Martinez, A. R. M.
Pimentel-Silva, L. R.
Jacinto-Scudeiro, L. A.
Nakagawa, E. Y.
Murakami, C. E. Fujiwara
Saute, J. A. M.
Pedroso, J. L.
Barsottini, O. G. P.
Teive, H. A. G.
Franca Jr., M. C.
|Abstract:||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. 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. 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. 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|
|Appears in Collections:||FCM - Artigos e Outros Documentos|
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