Genetic, biochemical and clinical findingss in Friedreich’s ataxia patients – relationship with the disease severity
Objective: To investigate the correlation of disease severity in terms of clinical, genetic and molecular parameters in FRDA. Background: : Friedreich ataxia (FRDA) is a…Effect on somatosensory pathway and balance control after unilateral MRgFUS Vim thalamotomy in patients with essential tremor
Objective: To identify the effect on somatosensory pathway and balance control after unilateral MRgFUS Vim thalamotomy in patients with essential tremor. Background: Essential tremor (ET)…An unusual phenotype of spinocerebellar ataxia type 12
Objective: To describe a case of spinocerebellar ataxia type 12 (SCA-12) with an unusual phenotype. Background: SCA-12 is a rare autosomal dominant cerebellar ataxia which…GAD65 antibody neurologic syndrome presenting with hemiparkinsonism
Objective: To describe a novel phenotype of glutamic acid decarboxylase-65 (GAD65) antibody-associated neurological disease in which an older patient initially presented with levodopa-unresponsive hemiparkinsonism and…Two cases of Ataxia Telangiectasia Like Disorder: phenotypic spectrum associated with MRE11 gene
Objective: In this study we show a couple of siblings with a progressive cerebellar ataxia associated with mutation in MRE11A. Our goal is to demonstrate…An uncommon clinical phenotype associated with ANO10 mutation
Objective: To describe a case with a homozygous c.132dupA ANO10 mutation. Background: Autosomal recessive cerebellar ataxia type 3 (ARCA3) is associated to ANO10 mutations. It…Clinical and genetic abnormalities in patients with Friedreich’s ataxia: A genotype-phenotype correlation
Objective: To examine the possibility of molecular finding affecting FRDA phenotype, we studied the clinical features and ascertained the GAA repeat sizes in FRDA patients…Detecting Lower Extremity Ataxia: Toe-Heel Tap is the Best Screening Tool
Objective: Identify the most reliable bedside screening test for lower extremity ataxia. Background: Accurate identification of ataxia is critical for appropriate diagnosis and treatment. The…Clinical correlation with the Genotype of Friedreich’s Ataxia (FRDA) patients in Indian population
Objective: To describe genotype-phenotype correlation in Indian FRDA patients. Background: Friedreich’s Ataxia(FRDA), an early onset rare autosomal recessive ataxia is caused by bi-allelic loss of…Reclassification of variant c.5825C>T and clinical evidence of variant c.3955_3958dup in a Peruvian family with ATM syndrome
Objective: To describe a Peruvian family carrying variants c.3955_3958dup and c.5825C>T in the ATM gene. Background: Pathogenic variants at ATM gene are associated both, to…
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