Friedreich's ataxia (FA) is a progressive, spinocerebellar degenerative disease. Onset is generally in the second decade of life, occurring as a neurologic degenerative process. Most, if not all, patients have an associated cardiomyopathy, which is frequently the cause of death. We studied two siblings who had FA with acute cardiomyopathy at 3 and 5 years of age, respectively, and in whom the classic nervous system signs developed, only later. The diagnosis of FA should be considered in patients of any age who have unexplained cardiomyopathy.
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Abnormal eye movements occur early in the course of disease in many ataxias. However, clinical assessments of oculomotor function lack precision, limiting sensitivity for measuring progression and the ability to detect subtle early signs. Quantitative assessment of eye movements during everyday behaviors such as reading has potential to overcome these limitations and produce functionally relevant measures.
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Department of Neurology, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, 6000 Harry Hines Boulevard, Dallas, TX 75390, USA.
Friedreich's ataxia (FRDA) is a multisystem, autosomal recessive disorder caused by mutations in the frataxin () gene. As FRDA is considered an FXN deficiency disorder, numerous therapeutic approaches in development or clinical trials aim to supplement FXN or restore endogenous expression. These include gene therapy, protein supplementation, genome editing or upregulation of transcription.
View Article and Find Full Text PDFDiagnosis of hereditary ataxias: a real-world single center experience.
J Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
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Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia.
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Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery.
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Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.
In the late 1800s, Nikolaus Friedreich first described "degenerative atrophy of the posterior columns of the spinal cord," noting its connection to progressive ataxia, sensory loss, and muscle weakness, now recognized as Friedreich ataxia (FRDA). Renewed interest in the disease in the 1970s and 80s by the Quebec Cooperative Group and by Anita Harding led to the development of clinical diagnostic criteria and insights into associated biochemical abnormalities, although the primary defect remained unknown. In 1988, Susan Chamberlain mapped FRDA's location on chromosome 9.
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