A5033223052- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Hearing, Cochlea, Tinnitus, Genetics
- Neuroscience of respiration and sleep
- Vestibular and auditory disorders
- Neurological diseases and metabolism
- Fetal and Pediatric Neurological Disorders
- Metabolism and Genetic Disorders
- Spinal Dysraphism and Malformations
- Parkinson's Disease Mechanisms and Treatments
- Infant Development and Preterm Care
- Autoimmune Neurological Disorders and Treatments
- Cellular transport and secretion
- RNA modifications and cancer
- Cerebrospinal fluid and hydrocephalus
- Children's Physical and Motor Development
- Glycogen Storage Diseases and Myoclonus
Hospital São Paulo
2025
Universidade Federal de São Paulo
2022-2024
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...
Background Spinal cord damage is a feature of many spinocerebellar ataxias (SCAs), but well-powered in vivo studies are lacking and links with disease severity progression remain unclear. Here we characterise cervical spinal morphometric abnormalities SCA1, SCA2, SCA3 SCA6 using large multisite MRI dataset. Methods Upper (vertebrae C1–C4) cross-sectional area (CSA) eccentricity (flattening) were assessed data from nine sites within the ENIGMA-Ataxia consortium, including 364 people ataxic...
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...
Downbeat nystagmus (DBN) is present in between 4 and 6% of patients with Chiari malformation type 1 (CM1). It primary gaze characterized by a pathological phase which drifts the eyes upward direction followed downward quick-phase.[1] [2] [3] one most prevalent craniocervical junction abnormalities[4] more frequent Northeastern Brazilians, due to pre-historic ancestors (previously thought be caused Dutch colonization).[5] The herniation cerebellar tonsils through foramen magnum radiologically...