Identification of autonomic changes in defined subpopulations of patients with genetic ataxias

• Grant number: 21/09363-5
• Support Opportunities: Regular Research Grants
• Start date: March 01, 2022
• End date: February 28, 2025
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Orlando Graziani Povoas Barsottini
• Grantee: Orlando Graziani Povoas Barsottini
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Associated researchers: Gilberto Mastrocola Manzano ; José Luiz Pedroso ; Marcio Luiz Escorcio Bezerra

Abstract

The management of some types of genetic ataxias remains a clinical challenge for general physicians and neurologists. Many of these patients have, in addition to cerebellar dysfunction, complaints of dizziness and other changes related to the autonomic nervous system, which can be confused with their own symptoms or due to isolated cerebellar dysfunction. However, there is little data in the current literature on autonomic dysfunction in genetic ataxias, which can lead to important morbidity in this population. Considering the wide availability of pharmacological or non-pharmacological therapeutic options, a better characterization of autonomic dysfunction in this subgroup of patients would be essential. This work aims to analyze the population of patients seen at the Ataxias outpatient clinic of the Department of Neurology and Neurosurgery at the Federal University of São Paulo (UNIFESP), with mutations in the ATXN2, ATXN3, ATXN7 or SACS genes. Its epidemiological, clinical and neurophysiological aspects will be evaluated through a prospective, observational and descriptive study. The autonomic nervous system will be evaluated through neurophysiological tests, with the objective of assisting in the most appropriate diagnosis and clinical management. (AU)