Friedreich ataxia

M Pandolfo - Neuromuscular Disorders of Infancy, Childhood, and …, 2015 - Elsevier
Friedreich's ataxia (FRDA) is the most common autosomal recessive hereditary ataxia in
Caucasians. Neurological symptoms dominate the clinical picture. The underlying …

Friedreich ataxia: an update on animal models, frataxin function and therapies

P González-Cabo, JV Llorens, F Palau… - … Diseases: Translation from …, 2009 - Springer
Friedreich ataxia (FRDA) is an autosomal recessive progressively debilitating degenerative
disease that principally affects the nervous system and the heart. Although FRDA is …

[HTML][HTML] Friedreich Ataxia: current status and future prospects

K Bürk - Cerebellum & ataxias, 2017 - Springer
Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients
carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9 …

Friedreich ataxia: new pathways

M Pandolfo - Journal of child neurology, 2012 - journals.sagepub.com
Friedreich ataxia is a rare disorder characterized by an autosomal recessive pattern of
inheritance. The disease is noted for a constellation of clinical symptoms, notably loss of …

Diagnosis and treatment of Friedreich ataxia: a European perspective

JB Schulz, S Boesch, K Bürk, A Dürr, P Giunti… - Nature Reviews …, 2009 - nature.com
Friedreich ataxia is the most frequent hereditary ataxia, with an estimated prevalence of 3–4
cases per 100,000 individuals. This autosomal-recessive neurodegenerative disease is …

Friedreich's ataxia: new insights

MM Krasilnikova, CL Humphries… - Emerging topics in life …, 2023 - portlandpress.com
Friedreich ataxia (FRDA) is an inherited disease that is typically caused by GAA repeat
expansion within the first intron of the FXN gene coding for frataxin. This results in the …

Therapeutic developments in Friedreich ataxia

RB Wilson - Journal of child neurology, 2012 - journals.sagepub.com
Friedreich ataxia is an inherited, severe, progressive neuro-and cardiodegenerative
disorder for which there currently is no approved therapy. Friedreich ataxia is caused by the …

Milestones in Friedreich ataxia: more than a century and still learning

A Abrahão, JL Pedroso, P Braga-Neto… - Neurogenetics, 2015 - Springer
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia worldwide. This
review highlights the main clinical features, pathophysiological mechanisms, and …

Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directions

CN Ashley, KD Hoang, DR Lynch… - Journal of child …, 2012 - journals.sagepub.com
Childhood ataxia is characterized by impaired balance and coordination primarily because
of cerebellar dysfunction. Friedreich ataxia, a form of childhood ataxia, is the most common …

Unanswered questions in Friedreich ataxia

DR Lynch, EC Deutsch, RB Wilson… - Journal of child …, 2012 - journals.sagepub.com
During the past 15 years, the pace of research advancement in Friedreich ataxia has been
rapid. The abnormal gene has been discovered and its gene product characterized, leading …