A5089530840- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- DNA Repair Mechanisms
- Metabolism and Genetic Disorders
- Neurological disorders and treatments
- Neuroscience of respiration and sleep
- HIV Research and Treatment
- Parkinson's Disease Mechanisms and Treatments
- Cytomegalovirus and herpesvirus research
- Genetics and Neurodevelopmental Disorders
- Hearing, Cochlea, Tinnitus, Genetics
- Neurological diseases and metabolism
- Vestibular and auditory disorders
- Neurological Complications and Syndromes
- Biotin and Related Studies
- Infectious Encephalopathies and Encephalitis
- Viral Infections and Immunology Research
- Health, Environment, Cognitive Aging
- Children's Physical and Motor Development
- Coenzyme Q10 studies and effects
- Microtubule and mitosis dynamics
- Infant Development and Preterm Care
- Porphyrin Metabolism and Disorders
- Endoplasmic Reticulum Stress and Disease
- Hereditary Neurological Disorders
Universidade Federal de São Paulo
2016-2024
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...
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...
ABSTRACT Introduction: The clinical assessment of patients with ataxias requires reliable scales. We aimed to translate, adapt and validate the International Cooperative Ataxia Rating Scale (ICARS) into Brazilian Portuguese. Methods: steps this study were forward translation, translation synthesis, backward expert committee meeting, preliminary pilot testing final assessment. Thirty enrolled in 61 evaluated for construct validity, internal consistency, intra- inter-rater reliability external...
View Supplementary Video S1
Abstract A homozygous pentanucleotide expansion in the RFC1 gene has been shown to be a common cause of late-onset ataxia. In general population total four different repeat conformations have observed: wild type sequence AAAAG (11 repeats), and longer expansions AAAAG, AAAGG AAGGG sequences. However, ataxia cases only pathogenic. this study, we assessed prevalence nature three adult-onset cohorts: Brazilian (n = 23) Canadian 26) that tested negative for other known mutations, as well cohort...
Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment.To investigate presence of as an early neurological manifestation, before ataxia, in some first six months disease.We evaluated a series 155 clinically and molecularly proven between 2013 2020. Data regarding sex, age, age at onset, disease duration, CAG repeat expansion length, symptom, scores on SARA ICARS scales,...
Introduction: Cerebellar ataxias are a heterogeneous group of diseases comprising genetic and non-genetic etiologies. Sporadic neurological disorders with no family history for ataxia or its related symptoms signs. Hereditary cerebellar hereditary spastic paraplegias (HSP) rare neurodegenerative considerable clinical overlap. Objectives: To report descriptive analysis the frequency different forms evaluated over 16 years in Ataxia Unit, Federal University São Paulo, Brazil. Methods: We...
Objective: To describe a patient with T398A mutation in mitochondrial ND5 gene that presented improvement motor skills after CoQ10 supplementation. Background: mutations have been described patients different clinical conditions, such as LHON, MELAS, Leigh-like syndrome and overlapping mitochondriopathy syndromes. The correct identification of mithocondrial genes is mandatory since they may response to therapy. Design/Methods: A 6-year-old boy delayed milestones birth. Neurological...
To conduct a SYNE1 mutation screen using tandem targeted sequencing and test its frequency in cohort of sporadic Brazilian ataxia cases. We paralleled this with detailed clinical description the patients harboring mutation.
Objective: To describe a case series of four patients with cerebellar degeneration associated HIV infection. Background: The spectrum neurologic disorders human immunodeficiency virus (HIV) is very broad. It can be divided into those that result from direct infection, opportunistic infections the nervous system, primary central system lymphoma and other malignancies, toxic effects therapies, others1. common neurodegenerative conditions which include as trigger, HIV-dementia complex...
April 22, 2018April 10, 2018Free AccessMultimodal Neuroimaging Analysis in Brazilian Patients with SYNE1 Ataxia (P1.070)Maria Thereza Drumond Gama, Camila C. Piccinin, Thiago Junqueira Rezende, Patrick Dion, Guy Rouleau, Marcondes Cavalcante França, Junior, Orlando Barsottini, and Jose Luiz PedrosoAuthors Info & AffiliationsApril 2018 issue90 (15_supplement)https://doi.org/10.1212/WNL.90.15_supplement.P1.070 Letters to the Editor