1. Autonomic dysfunction in hereditary spastic paraplegia type 4
- Author
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Orlando Graziani Povoas Barsottini, C. E. Fujiwara Murakami, Marcondes C. França, Luciana Ramalho Pimentel-Silva, Carelis González-Salazar, José Luiz Pedroso, Jonas Alex Morales Saute, É. Y. Nakagawa, H.A.G. Teive, Laís Alves Jacinto-Scudeiro, Karen A. G. Takazaki, and Alberto R. M. Martinez
- Subjects
Adult ,Male ,medicine.medical_specialty ,Spastin ,Hereditary spastic paraplegia ,Urinary system ,Hyperreflexia ,Autonomic Nervous System ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,medicine ,Heart rate variability ,Humans ,030212 general & internal medicine ,Spasticity ,Adenosine Triphosphatases ,Paraplegia ,business.industry ,Spastic Paraplegia, Hereditary ,Middle Aged ,medicine.disease ,Sudomotor ,Autonomic nervous system ,Cross-Sectional Studies ,Neurology ,Mutation ,Reflex ,Cardiology ,Female ,Neurology (clinical) ,medicine.symptom ,business ,030217 neurology & neurosurgery - 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
- Published
- 2018