A5060511043- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Autoimmune Neurological Disorders and Treatments
- Hereditary Neurological Disorders
- Neurological and metabolic disorders
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- DNA Repair Mechanisms
- Glycogen Storage Diseases and Myoclonus
- Metabolism and Genetic Disorders
- Botulinum Toxin and Related Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Peripheral Neuropathies and Disorders
- Amyotrophic Lateral Sclerosis Research
- Systemic Lupus Erythematosus Research
- Neurological Complications and Syndromes
- Neurology and Historical Studies
- Restless Legs Syndrome Research
- Fetal and Pediatric Neurological Disorders
- Genomics and Rare Diseases
- Retinal Development and Disorders
- Advanced Neuroimaging Techniques and Applications
Universidade Federal de São Paulo
2016-2025
Hospital São Paulo
2016-2025
Hospital Israelita Albert Einstein
2013-2025
Beneficência Portuguesa de São Paulo
2017-2024
Universidade Estadual de Campinas (UNICAMP)
2024
Universidade de São Paulo
2015-2024
John Wiley & Sons (United States)
2018-2024
Universidade Federal de Juiz de Fora
2016-2024
Fundação de Apoio à Universidade Federal de São Paulo
2023
Faculdade de Ciências Médicas da Santa Casa de São Paulo
2016-2023
Abstract Ataxia due to an autosomal dominant intronic GAA repeat expansion in FGF14 [GAA-FGF14 ataxia, spinocerebellar ataxia 27B (SCA27B)] has recently been identified as one of the most common genetic late-onset ataxias. We here aimed characterize its phenotypic profile, natural history progression, and 4-aminopyridine (4-AP) treatment response. conducted a multi-modal cohort study 50 GAA-FGF14 patients, comprising in-depth phenotyping, cross-sectional longitudinal progression data (up 7...
Objective Machado–Joseph disease (SCA3/MJD) is the most frequent spinocerebellar ataxia worldwide and characterized by brainstem, basal ganglia, cerebellar damage. However, little known about natural history of disease. This motivated us to determine extension progression central nervous system involvement in SCA3/MJD using multimodal magnetic resonance imaging (MRI)‐based analyses a large cohort patients (n = 79) presymptomatic subjects 12). Methods All underwent MRI 3T device assess gray...
Charcot–Marie–Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics progressive distal muscle weakness and atrophy, foot deformities, sensory loss, as well diminished tendon reflexes. Hundreds causative DNA changes have been found, but much the genetic basis still unexplained. Mutations in ALS5/SPG11/ KIAA1840 gene are frequent cause autosomal recessive spastic paraplegia with thin corpus callosum axonal neuropathy, account for ∼40% juvenile...
Intronic FGF14 GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-FGF14 ataxia; SCA27B). The global epidemiology and regional prevalence this newly reported disorder remain established. In study, we investigated the frequency GAA-FGF14 in large cohort Brazilian patients with unsolved adult-onset ataxia.We recruited 93 index genetically despite extensive genetic investigation genotyped locus. Patients were across 4 different regions Brazil.Of...
Abstract After more than 200 years since its initial description, the clinical diagnosis of Parkinson's disease (PD) remains an often-challenging endeavor, with broad implications that are fundamental for management. Despite major developments in understanding it's pathogenesis, pathological landmarks, non-motor features and potential paraclinical clues, most accepted diagnostic criteria remain solidly based on a combination signs. Here, we review this process, discussing history, criteria,...
The hereditary ataxias comprise a very large spectrum of genetically determined neurodegenerative disorders with progressive ataxia as the prominent symptom. In order to measure severity cerebellar in an easier and more practical way, it was proposed new scale: Scale for Assessment Rating Ataxia (SARA). objective this study translate validate SARA into Brazilian Portuguese. METHOD: translated Portuguese, analyzed, back English, compared original version. It applied 30 patients. addition...
Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like phospholipase domain containing protein 6, also known as neuropathy target esterase (NTE), which is toxic organophosphates that induce human paralysis severe axonopathy large neurons. Mutations in cause spastic paraplegia characterized by motor neuron degeneration. Here we identify childhood blindness seven families with degeneration,...
A biallelic pentanucleotide expansion in the RFC1 gene has been reported to be a common cause of late-onset ataxia. In general population, four different repeat conformations are observed: wild type sequence AAAAG (11 repeats) and longer expansions either AAAAG, AAAGG or AAGGG sequences. However only were this study, we aimed assess prevalence nature three cohorts adult-onset ataxia cases: Brazilian (n = 23) Canadian 26) cases that negative for presence variants other known ataxia-associated...
Ataxias, in particular if of genetic origin, have long been considered untreatable. They are now becoming models for the development targeted molecular therapies due to their defined etiology. The current decade will thus translate advance genomics ataxias, which has allowed unraveling almost 50 autosomal dominant spinocerebellar ataxias (SCAs) and more than 100 recessive ataxia (ARCA) genes, into therapy approaches based on underlying gene mutations derived mechanisms.1-3 most advanced them...
Abstract Background Patient‐focused outcomes present a central need for trial‐readiness across all ataxias. The Activities of Daily Living part the Friedreich Ataxia Rating Scale (FARS‐ADL) captures functional impairment and longitudinal change but is only validated in Ataxia. Objective Validation FARS‐ADL regarding disease severity patient‐meaningful impairment, its sensitivity to genetic Methods Real‐world registry data 298 ataxia patients genotypes were analyzed, including (1)...
Abstract Background Cerebellar ataxias comprise sporadic and genetic etiologies. Ataxia may also be a presenting feature in hereditary spastic paraplegias (HSPs). Objective To report descriptive analysis of the frequency different forms cerebellar ataxia evaluated over 17 years Unit Universidade Federal de São Paulo, Brazil. Methods Charts patients who were being followed from January 2007 to December 2023 reviewed. We used statistics present our results as frequencies percentages overall...