Neuromuscular diseases and Neuroimmunology
Prof. Amilton Antunes Barreira, Prof. Claudia Sobreira, Prof. Wilson Marques Junior, and Prof. Vanessa Daccach
This line of research explores the challenges for the differential diagnosis of neuromuscular and autoimmune diseases of the nervous system based on clinical assessment and interpretation of complementary tests. In the context of professional training, the master’s student involved in these lines obtain training in the collection and interpretation of nerve and muscle biopsies; extensive training in the use of immunosuppressants and immunomodulators and their associations for the treatment of autoimmune diseases of the nervous system; the domain of replacement therapy of enzymes, their precursors or similar in neuromuscular diseases with enzyme deficiency; and acquisition of knowledge about different strategies for a genetic treatment of neuromuscular diseases. Eight professional master’s dissertations have been defended in this area.
Research projects already completed
● Elevation of CSF anti-aquaporin-4 as a predictor of neuromyelitis optica episodes.
● Management of pain in patients with facioscapulohumeral dystrophy.
● Clinical, evolutionary, and treatment aspects in multifocal motor neuropathy.
● Guillain-Barré Syndrome: Comparative study of the classic demyelinating form in adults and children.
● Translation, cross-cultural adaptation, and validation of the global scale for the assessment of disabilities in multifocal motor neuropathy
Ongoing research projects
● Analysis of the prevalence of pain and fatigue in children and adolescents with Duchenne muscular dystrophy
● Clinical and neuroimaging characterization of patients with mitochondrial encephalomyopathy associated with the m.3243A>G mutation
● Clinical characterization of myalgia, fatigue, and cramps in patients with exercise intolerance and multiple mitochondrial DNA deletions
● Distribution of Brazilian families with type 5A hereditary spastic paraplegia with CYP7B1 gene mutation in a center for neuromuscular diseases in Ribeirão Preto, São Paulo, Brazil
● Therapeutic strategies after discontinuation of Natalizumab in patients with multiple sclerosis: a retrospective study at the Multiple Sclerosis Center in Ribeirão Preto, São Paulo, Brazil
● Investigation on mutations and polymorphisms in the Transthyretin gene in patients diagnosed with Chronic Demyelinating Inflammatory Polyradiculoneuropathy
● Chronic Demyelinating Inflammatory Polyradiculoneuropathy and Vestibulopathy: a systematic review