Results 1 to 10 of about 4,301 (184)

Psychological resilience in patients with Friedreich ataxia: a 6-year longitudinal analysis [PDF]

Neurological Research and Practice
Background Friedreich ataxia is a debilitating multisystem neurodegenerative disorder. Depression is more prevalent in individuals with Friedreich ataxia (14%-36%) than in the general European population (8.5%). While psychological resilience is known to
Ruth Eumann, Janna Krahe, Imis Dogan, Ana Sofia Costa, Jörg B. Schulz, Stella A. Lischewski, Kathrin Reetz, the FACROSS Study Group   +7 more
doaj   +2 more sources

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions. [PDF]

Ann Clin Transl Neurol
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Lazaropoulos MP, Devore MC, Lam C, Park C, Bidichandani S, Lynch DR.   +5 more
europepmc   +2 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   +1 more source

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

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

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

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

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

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