A5038364226- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Autoimmune Neurological Disorders and Treatments
- Neurological diseases and metabolism
- Hereditary Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Glycogen Storage Diseases and Myoclonus
- Neurological and metabolic disorders
- RNA regulation and disease
- DNA Repair Mechanisms
- Metabolism and Genetic Disorders
- Botulinum Toxin and Related Neurological Disorders
- Peripheral Neuropathies and Disorders
- Systemic Lupus Erythematosus Research
- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Lysosomal Storage Disorders Research
- Neurological Complications and Syndromes
- Neurology and Historical Studies
- Cytomegalovirus and herpesvirus research
- Restless Legs Syndrome Research
- Ocular Diseases and Behçet’s Syndrome
- Advanced Neuroimaging Techniques and Applications
Hospital São Paulo
2016-2025
Universidade Federal de São Paulo
2016-2025
Beneficência Portuguesa de São Paulo
2017-2024
Universidade Estadual de Campinas (UNICAMP)
2016-2024
Universidade de São Paulo
2007-2024
Universidade Federal de Juiz de Fora
2016-2024
John Wiley & Sons (United States)
2024
Fundação de Apoio à Universidade Federal de São Paulo
1996-2023
Hospital Israelita Albert Einstein
2010-2023
General Department of Preventive Medicine
2023
Environmental manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn accumulation in the basal ganglia. We have recently reported a suspected autosomal recessively inherited syndrome hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia cases without environmental exposure. Whole-genome mapping two consanguineous families identified SLC30A10 as affected gene this type hypermanganesemia. This was...
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...
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...
Objectives To compare the dopaminergic neuronal imaging features of different subtypes genetic Parkinson's Disease. Methods A retrospective study diseases cases in which DaTSCAN (123I-FP-CIT) had been performed. Specific non-displaceable binding was calculated for bilateral caudate and putamen each case. The right:left asymmetry index striatal calculated. Results Scans were available from 37 monogenetic disease (7 glucocerebrosidase (GBA) mutations, 8 alpha-synuclein, 3 LRRK2, 7 PINK1, 12...
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...