Results 21 to 30 of about 6,668 (188)

Advantages and Limitations of Gene Therapy and Gene Editing for Friedreich’s Ataxia

Frontiers in Genome Editing, 2022
Friedreich’s ataxia (FRDA) is an inherited, multisystemic disorder predominantly caused by GAA hyper expansion in intron 1 of frataxin (FXN) gene. This expansion mutation transcriptionally represses FXN, a mitochondrial protein that is required for iron ...
Anusha Sivakumar, Stephanie Cherqui
doaj   +1 more source

The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis

BMC Neurology, 2022
Background Study the cognitive profile of individuals with Friedreich ataxia (FRDA) and seek evidence for correlations between clinical, genetic and imaging characteristics and neuropsychological impairments.
Gilles Naeije, Jörg B Schulz, Louise A Corben   +2 more
doaj   +1 more source

Monitoring progression in Friedreich ataxia (FRDA): the use of clinical scales [PDF]

Journal of Neurochemistry, 2013
AbstractFriedreich ataxia (FRDA) is a progressive neurodegenerative disorder associated with ataxia, dysarthria, pyramidal tract signs, sensory loss, cardiomyopathy and diabetes. There is no cure for FRDA so far. Studies of the natural history of the disease and future therapeutic trials require development of appropriate outcome markers.
Katrin Bürk, Stefanie R. Schulz, Jörg B. Schulz   +2 more
openaire   +2 more sources

Downregulation of Three Immune-Specific Core Genes and the Regulatory Pathways in Children and Adult Friedreich's Ataxia: A Comprehensive Analysis Based on Microarray

Frontiers in Neurology, 2022
BackgroundFriedreich's ataxia (FRDA) is a familial hereditary disorder that lacks available therapy. Therefore, the identification of novel biomarkers and key mechanisms related to FRDA progression is urgently required.MethodsWe identified the up ...
Lichun Liu, Yongxing Lai, Zhidong Zhan, Qingxian Fu, Yuelian Jiang   +4 more
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Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia

Disease Models & Mechanisms, 2013
SUMMARY Friedreich’s ataxia (FRDA) is a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy. FRDA is due to expanded GAA repeats within the first intron of the gene encoding frataxin, a conserved mitochondrial ...
Aurore Hick, Marie Wattenhofer-Donzé, Satyan Chintawar, Philippe Tropel, Jodie P. Simard, Nadège Vaucamps, David Gall, Laurie Lambot, Cécile André, Laurence Reutenauer, Myriam Rai, Marius Teletin, Nadia Messaddeq, Serge N. Schiffmann, Stéphane Viville, Christopher E. Pearson, Massimo Pandolfo, Hélène Puccio   +17 more
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Genetics of Friedreich Ataxia

Pediatric Neurology Briefs, 1997
Genotype-phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three smaller clinically atypical groups (Arcadian FRDA, late-onset FRDA (LOFA), and FRDA with retained reflexes (FARR)), were studied at the Centre ...
J Gordon Millichap
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Age of onset determines intrinsic functional brain architecture in Friedreich ataxia

Annals of Clinical and Translational Neurology, 2020
Objective Friedreich ataxia (FRDA) is the commonest hereditary ataxia in Caucasians. Most patients are homozygous for expanded GAA triplet repeats in the first intron of the frataxin (FXN) gene, involved in mitochondrial iron metabolism.
Gilles Naeije, Vincent Wens, Nicolas Coquelet, Martin Sjøgård, Serge Goldman, Massimo Pandolfo, Xavier P. De Tiège   +6 more
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Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1994
Twenty two patients from 17 families with Friedreich's disease phenotype but with onset ranging from the ages of 21 to 36 are described. Comparison with "typical" Friedreich's disease with onset before 20 years of age showed only a lower occurrence of skeletal deformities.
DEMICHELE G, FILLA A, CAVALCANTI F, DIMAIO L, PIANESE L, CASTALDO I, CALABRESE O, MONTICELLI A, VARRONE S, CAMPANELLA G, LEONE M, PANDOLFO M, COCOZZA S   +12 more
openaire   +6 more sources

Friedreich’s Ataxia: A Neuronal Point of View on the Oxidative Stress Hypothesis

Antioxidants, 2014
A prominent feature of Friedreich’s ataxia (FRDA) is the neurodegeneration of the central and peripheral nervous systems, but little information is available about the mechanisms leading to neuronal damage in this pathology.
Barbara Carletti, Fiorella Piemonte
doaj   +1 more source

PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia

Neurobiology of Disease, 2021
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory neurons and spinocerebellar tracts, cardiomyopathy, and increased incidence in diabetes.
Laura Rodríguez-Pascau, Elena Britti, Pablo Calap-Quintana, Yi Na Dong, Cristina Vergara, Fabien Delaspre, Marta Medina-Carbonero, Jordi Tamarit, Federico V. Pallardó, Pilar Gonzalez-Cabo, Joaquim Ros, David R. Lynch, Marc Martinell, Pilar Pizcueta   +13 more
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