Results 21 to 30 of about 3,973 (174)

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   +1 more source

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

Insights into the role of oxidative stress in the pathology of Friedreich ataxia using peroxidation resistant polyunsaturated fatty acids

Redox Biology, 2013
Friedreich ataxia is an autosomal recessive, inherited neuro- and cardio-degenerative disorder characterized by progressive ataxia of all four limbs, dysarthria, areflexia, sensory loss, skeletal deformities, and hypertrophic cardiomyopathy. Most disease
M. Grazia Cotticelli, Andrew M. Crabbe, Robert B. Wilson, Mikhail S. Shchepinov   +3 more
doaj   +1 more source

Friedreich ataxia- pathogenesis and implications for therapies

Neurobiology of Disease, 2019
Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/compound heterozygous mutations in FXN. This gene encodes frataxin, a protein largely localized to mitochondria.
Martin B. Delatycki, Sanjay I. Bidichandani   +1 more
doaj   +1 more source

HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.

PLoS ONE, 2008
BackgroundFriedreich ataxia, an autosomal recessive neurodegenerative and cardiac disease, is caused by abnormally low levels of frataxin, an essential mitochondrial protein.
Myriam Rai, Elisabetta Soragni, Kai Jenssen, Ryan Burnett, David Herman, Giovanni Coppola, Daniel H Geschwind, Joel M Gottesfeld, Massimo Pandolfo   +8 more
doaj   +1 more source

Diagnosing Friedreich's ataxia [PDF]

Archives of Disease in Childhood, 1998
Clinical diagnosis is still of the utmost importance and following our review of cases diagnosed using the strict criteria, 100% were homozygous for the expansion. However, now that there is a relatively simple direct genetic test, the diagnosis can be considered in more unusual cases.
openaire   +2 more sources

Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA)

Neurological Research and Practice, 2019
Introduction Currently, no treatment that delays with the progression of Friedreich ataxia is available. In the majority of patients Friedreich ataxia is caused by homozygous pathological expansion of GAA repeats in the first intron of the FXN gene ...
Kathrin Reetz, Ralf-Dieter Hilgers, Susanne Isfort, Marc Dohmen, Claire Didszun, Kathrin Fedosov, Jennifer Kistermann, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Thomas Klockgether, Massimo Pandolfo, Rudolf Korinthenberg, Philip Lavin, Geert Molenberghs, Vincenzo Libri, Paola Giunti, Richard Festenstein, Jörg B. Schulz, the EFACTS or NICOFA study group   +22 more
doaj   +1 more source

Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family

Clinical Case Reports, 2021
Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family.
Cheick A. K. Cissé, Lassana Cissé, Hamidou O. Ba, Oumar Samassékou, Assiatou Simaga, Abdoulaye Taméga, Salimata Diarra, Seybou H. Diallo, Thomas Coulibaly, Salimata Diallo, Abdoulaye Yalcouyé, Alassane B. Maiga, Mohamed Keita, Kenneth H. Fischbeck, Sékou F. Traoré, Cheick O. Guinto, Guida Landouré, from the H3Africa Consortium   +17 more
doaj   +1 more source

FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.

PLoS ONE, 2015
BackgroundFriedreich ataxia is caused by an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene that results in epigenetic silencing of the FXN promoter. This silencing mechanism is seen in patient-derived lymphoblastoid cells but it remains
Yogesh K Chutake, Whitney N Costello, Christina C Lam, Aniruddha C Parikh, Tamara T Hughes, Michael G Michalopulos, Mark A Pook, Sanjay I Bidichandani   +7 more
doaj   +1 more source

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

Frontiers in Cellular Neuroscience, 2018
Friedreich ataxia is a multi-system autosomal recessive inherited disorder primarily caused by homozygous GAA repeat expansion mutations within intron 1 of the frataxin gene. The resulting deficiency of frataxin protein leads to progressive mitochondrial
Sahar Al-Mahdawi, Sahar Al-Mahdawi, Heather Ging, Aurelien Bayot, Francesca Cavalcanti, Valentina La Cognata, Sebastiano Cavallaro, Paola Giunti, Mark A. Pook, Mark A. Pook   +9 more
doaj   +1 more source