Search results for " Friedreich ataxia"

showing 3 items of 3 documents

Hypo-excitability of cortical areas in patients affected by Friedreich ataxia: A TMS study

2005

The aim of the study was to explore excitability of a motor and a non-motor (visual) area in patients affected by Friedreich ataxia and to correlate neurophysiological data with clinical parameters. Seven patients (3M/4F) and ten healthy controls (5M/5F) participated in the study. The hot-spot for activation of right abductor pollicis brevis was checked by means of a figure-of-eight coil and the motor threshold (MT) on this point was recorded. The phosphene threshold (PT) was measured by means of a focal coil over the occipital cortex as the lower intensity of magnetic stimulation able to induce the perception of phosphenes. The patients showed a significantly higher mean PT (p<.03) and MT …

AdultMalemedicine.medical_specialtyCerebellumAtaxiaAdolescentPhosphenesCentral nervous system diseaseMagneticsCortical excitability TMS Cerebellum Friedreich ataxia Visual cortex Motor cortex Hypo-excitabilityInternal medicineSensory thresholdCortex (anatomy)medicineHumansVisual CortexBrain MappingMotor Cortexmedicine.diseaseElectric StimulationSurgerymedicine.anatomical_structurePhospheneVisual cortexNeurologyFriedreich AtaxiaSensory ThresholdsCardiologyFemaleNeurology (clinical)medicine.symptomTrinucleotide Repeat ExpansionPsychologyMotor cortexJournal of the Neurological Sciences
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Rare cardiomyopathies: Diagnostic features

2013

Cardiomyopathies (CM) are an important and heterogeneous group of diseases affecting the myocardium. They can induce mechanical and/or electrical disorders and are due to a variety of causes, they frequently are genetic. However, since their high number and their clinical complexity, the identification is still a challenge. Echocardiography is a very useful tool in the assessment of CM. In this review we aim to define the typical clinical features and to discuss the main diagnostic tool, above all echocardiography that can help physicians in the correct assessment of CM.

Cardiomyopathy RestrictiveCardiomyopathyRestrictiveReproducibility of ResultsSettore MED/11 - Malattie Dell'Apparato CardiovascolareSensitivity and Specificitycardiomyopahies echocardiographyDiagnosis DifferentialArrhythmogenic Right Ventricular Dysplasia; Cardiomyopathies; Cardiomyopathy Restrictive; Diagnosis Differential; Fabry Disease; Friedreich Ataxia; Humans; Predictive Value of Tests; Reproducibility of Results; Risk Factors; Sensitivity and Specificity; Takotsubo Cardiomyopathy; EchocardiographyFriedreich AtaxiaPredictive Value of TestsRisk FactorsTakotsubo CardiomyopathyEchocardiographyDiagnosisDifferentialFabry DiseaseHumansCardiomyopathiesArrhythmogenic right ventricular dysplasia; Cardiomyopathy restrictive; Fabry diseaseArrhythmogenic Right Ventricular Dysplasia
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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

1996

International audience; Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.

MaleIron-sulfur cluster assemblyPolymerase Chain Reaction0302 clinical medicineTrinucleotide RepeatsIron-Binding ProteinsGenetics0303 health sciencesMultidisciplinaryAutosomal recessive cerebellar ataxiaPedigree3. Good healthFemalemedicine.symptomChromosomes Human Pair 9HumanPair 9Heterozygotecongenital hereditary and neonatal diseases and abnormalitiesAtaxiaMolecular Sequence DataGenes RecessiveLocus (genetics)BiologyChromosomes03 medical and health sciencesGene mappingAlleles; Amino Acid Sequence; Base Sequence; Chromosomes Human Pair 9; DNA Primers; Female; Friedreich Ataxia; Genes Recessive; Heterozygote; Humans; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Proteins; Sequence Alignment; Introns; Iron-Binding Proteins; Trinucleotide RepeatsmedicineRecessiveHumansPoint MutationAmino Acid SequenceAlleleAllelesDNA Primers030304 developmental biologyBase SequencePoint mutationProteins[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologymedicine.diseaseMolecular biologyIntronsGenes[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsFriedreich AtaxiaFrataxinbiology.proteinSequence Alignment030217 neurology & neurosurgeryScience
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