Wilson Marques Junior

• Abstract

  Charcot-Marie-Tooth disease (CMT) is the most frequente hereditary motor and sensory neuropathy. The subtype CMT1A results from duplication of the PMP22 gene, localized at the 17p11.2-p12 region, accounting for approximately 50% of the CMT patients and 75% of the demyelinating CMT. Disease onset is usually in the first or second decade, being the classical clinical manifestations weakn…

  Environmental modifiers of Charcot-Marie-Tooth phenotype: Diabetes Mellitus, pregnancy and abnormalities of the immune response, AP.R
• Genotypical profile of a Brazilian population of patients with hereditary motor and sensory neuropathy, AP.R

• Abstract

  The present study aims to seek a correlation between CAG expansions in the ATXN2 gene and the age of onset of symptoms in SCA3. Although the number of CAG repeats in the ATXN3 gene is a strong predictor of progression, we know that it is not the only factor that affects the age at onset of the disease, since there are patients with the same number of repeats who manifest the disease at di…

  Evaluation of the correlation between CAG trinucleotide expansion in ATXN2 and age at onset of symptoms in Spinocerebellar Ataxia type 3., BP.IC

• Abstract

  Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a late-onset, slowly progressive neurological disorder characterized by imbalance, sensory neuropathy and occasionally chronic cough and autonomic dysfunction. Despite recently described, being recognized as a well-defined clinical entity only in 2011, its etiopathogenesis is already on the process of elucidation …

  Biallelic expansion of an intronic repeat in the RFC1 gene in a sample of Brazilian citizens: a genetic study, BP.IC

• Abstract

  Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy, affecting 1 in every 2500 people. It includes a heterogeneous group of genetic diseases that affect the peripheral nervous system and it is transmitted by different heredity patterns. The clinical presentation of this disease can be very variable and disabling. Motor neuropathy results in foot deformation (pes cav…

  Analysis of gene MT-ATP6/8 in patients with axonal Charcot-Marie-Tooth disease (CMT2), BP.IC

(Only some records are available in English at this moment)