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Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia
We examined the clinical features of Friedreich ataxia (FRDA) patients who present first with cardiac disease in order to understand the earliest...
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Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
BackgroundIndividuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in...
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Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia
Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disease characterised in most cases by progressive and debilitating motor...
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Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia
ObjectivesFriedreich ataxia is (FRDA) an autosomal recessive neurodegenerative disorder associated with intrinsic oxidative damage, suggesting that...
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The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis
BackgroundStudy the cognitive profile of individuals with Friedreich ataxia (FRDA) and seek evidence for correlations between clinical, genetic and...
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Longitudinal structural brain changes in Friedreich ataxia depend on disease severity: the IMAGE-FRDA study
BackgroundFriedreich ataxia is an inherited neurodegenerative disease, with cerebral and cerebellar pathology evident. Despite an increased...
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Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages
ObjectivesFriedreich’s ataxia (FA) is the most common hereditary ataxia, characterized by multisystemic manifestations including neurological,...
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Vestibular Pathology as Early Finding of Friedreich’s Ataxia in a 16 Years Old Woman
Friedreich’s ataxia is degenerative disease frequently starting around puberty and it’s characterized by a progressive gait ataxia, limb weakness,...
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Sexual function, intimate relationships and Friedreich ataxia
BackgroundSexual dysfunction (SD) is reported in neurological conditions similar to Friedreich ataxia (FRDA). Anecdotally individuals with FRDA...
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Myocardial Perfusion Reserve in Children with Friedreich Ataxia
Children with Friedreich’s ataxia (FA) are at risk of perioperative morbidity and mortality from severe unpredictable heart failure. There is...
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Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
Hereditary ataxia is a heterogeneous group of complex neurological disorders. Next-generation sequencing methods have become a great help in clinical...
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Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach
This study presents an in-depth analysis of mitochondrial enzyme activities in Friedreich's ataxia (FA) patients, focusing on the Electron Transport...
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Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study
BackgroundDespite recent progress in the field of genetics, sporadic late-onset (> 40 years) cerebellar ataxia (SLOCA) etiology remains frequently...
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Scale for the assessment and rating of ataxia (SARA): Übersetzung und kulturelle Anpassung an den deutschsprachigen Raum
Background/objectiveThe scale for the assessment and rating of ataxia (SARA) is a feasible assessment for the classification and evaluation of...
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Recessive cerebellar and afferent ataxias — clinical challenges and future directions
Cerebellar and afferent ataxias present with a characteristic gait disorder that reflects cerebellar motor dysfunction and sensory loss. These...
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A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
BackgroundMT-ATP6 is a mitochondrial gene which encodes for the intramembrane subunit 6 (or A) of the mitochondrial ATP synthase, also known asl...
