Results 1 to 10 of about 5,562 (221)

Diabetes in Friedreich Ataxia [PDF]

Journal of Neurochemistry, 2013
AbstractDiabetes is a common metabolic disorder in patients with Friedreich ataxia. In this Supplement article, we review the clinical data on diabetes in Friedreich ataxia, and the experimental data from rodent and in vitro models of the disease.
Miriam Cnop, Hindrik Mulder, Mariana Igoillo-Esteve   +2 more
exaly   +5 more sources

Friedreich Ataxia [PDF]

Journal of the Neurological Sciences, 2003
There has been rapid progress in the understanding of several aspects of Friedreich's ataxia (FA) since the gene mutation was identified in 1996. At the clinical level, now it is possible to confirm that the majority of patients fullfilling clinical criteria for classic FA have the FA gene mutation but some do not, indicating genetic heterogeneity ...
Pandolfo, Massimo, M. Pandolfo
openaire   +11 more sources

Auditory neuropathy in mice and humans with Friedreich ataxia

Annals of Clinical and Translational Neurology, 2023
Objective Recent studies have found that human Friedreich ataxia patients have dysfunction of transmission in the auditory neural pathways. Here, we characterize hearing deficits in a mouse model of Friedreich ataxia and compare these to a clinical ...
Gary Rance, Peter Carew, Leon Winata, Phillip Sale, Martin Delatycki, David Sly   +5 more
doaj   +2 more sources

Hepatic mitochondrial dysfunction in Friedreich Ataxia

BMC Neurology, 2011
Background Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas.
Stüwe Sven H, Goetze Oliver, Arning Larissa, Banasch Matthias, Schmidt Wolfgang E, Schöls Ludger, Saft Carsten   +6 more
doaj   +2 more sources

Left atrial appendage thrombosis in a patient with Friedreich Ataxia–related cardiomyopathy, left ventricular systolic dysfunction, and atrial fibrillation

SAGE Open Medical Case Reports, 2021
Friedreich ataxia is the most common form of hereditary ataxia. Heart involvement in Friedreich ataxia is common and can include increased left ventricular wall thickness, atrial fibrillation, and in the later stages, a reduction of left ventricular ...
Michele Russo, Annachiara Nuzzo, Matteo Foschi, Simona Boarin, Stefano Lorenzetti, Corrado Tomasi, Pietro Querzani, Andrea Rubboli   +7 more
doaj   +1 more source

Neuroinflammation in Friedreich’s Ataxia

International Journal of Molecular Sciences, 2022
Friedreich’s ataxia (FRDA) is a rare genetic disorder caused by mutations in the gene frataxin, encoding for a mitochondrial protein involved in iron handling and in the biogenesis of iron−sulphur clusters, and leading to progressive nervous system damage.
Apolloni, Savina, Milani, Martina, D'Ambrosi, Nadia   +2 more
openaire   +3 more sources

Scoliosis in Friedreich’s Ataxia [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1982
SUMMARY:The preliminary results based on a three year study on the evolution and management of scoliosis in Friedreich’s ataxia are presented. Thirty-two patients were followed in the Neuromuscular Disease Clinic at Sainte-Justine Hospital where standardized spinal radiographs were taken periodically with the Scoliosis Chariot and the Throne ...
P, Allard, J, Dansereau, P S, Thiry, G, Geoffroy, J V, Raso, M, Duhaime   +5 more
openaire   +2 more sources

Cardiomyopathy of Friedreich Ataxia [PDF]

Journal of Neurochemistry, 2013
AbstractFriedreich's ataxia is a rare hereditary, predominantly neurologically defined multisystem disorder of mitochondrial function. Although the gene defect has been identified, the precise pathophysiology of the deficient mitochondrial protein, frataxin, is unknown. Besides the characteristic features of spinocerebellar ataxia the heart may also be
Frank, Weidemann, Stefan, Störk, Dan, Liu, Kai, Hu, Sebastian, Herrmann, Georg, Ertl, Markus, Niemann   +6 more
openaire   +2 more sources

Increased brain tissue sodium concentration in Friedreich ataxia: A multimodal MR imaging study

NeuroImage: Clinical, 2022
In patients with Friedreich ataxia, structural MRI is typically used to detect abnormalities primarily in the brainstem, cerebellum, and spinal cord. The aim of the present study was to additionally investigate possible metabolic changes in Friedreich ...
Janna Krahe, Imis Dogan, Claire Didszun, Shahram Mirzazade, Alexa Haeger, Nadim Joni Shah, Ilaria A. Giordano, Thomas Klockgether, Guillaume Madelin, Jörg B. Schulz, Sandro Romanzetti, Kathrin Reetz   +11 more
doaj   +1 more source

Anesthetic Management on a Patient with Friedreich’s Ataxia

Medicine Science, 2013
Friedreich’s ataxia is a rare (1:50 000) autosomal recessively inherited neurodegenerative disorder. Findings such as weakness in skeletal muscles, progressive difficulty in walking and extremity ataxia are prominent. Problems such as cardiac, endocrine,
Ulku Ozgul, Mehmet Ali Erdogan, Mustafa Said Aydogan, Mehmet Fatih Korkmaz, Hamza Nakir, Mahmut Durmus   +5 more
doaj   +1 more source