Results 11 to 20 of about 5,555 (166)

Nomlabofusp Treatment Produces Frataxin Levels That Correlate Across Peripheral Tissues: Preclinical and Clinical Support for Surrogate Tissue Sampling. [PDF]

Clin Transl Sci
ABSTRACT Nomlabofusp is a recombinant, cell‐penetrating human frataxin (hFXN) fusion protein in development for the treatment of Friedreich's ataxia (FRDA). This study evaluated whether nomlabofusp‐derived hFXN concentrations covary across accessible peripheral matrices and FRDA‐relevant tissues, supporting the feasibility of surrogate tissue sampling ...
De Toni F, Hamdani M, Patadia C, Shankar G.   +3 more
europepmc   +2 more sources

Multimodal Imaging Investigation of the Dentato-Thalamo-Cortical Pathway in Friedreich's Ataxia. [PDF]

Mov Disord
Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Jing Y, Dogan I, Dadsena R, Faber J, Schulz JB, Reetz K, Romanzetti S, FACROSS study group.   +7 more
europepmc   +2 more sources

The canine FRDA gene maps to CFA 1q31.1→q31.3 [PDF]

Cytogenetic and Genome Research, 2002
Supported by a grant of the Gesellschaft zur Forderung kynologischer Forschung (GKF) e.V., Bonn. Heidi Kuiper is supported by a grant from the affirmative action program for women of the School of Veterinary Medicine Hannover. Pascale Quignon is supported by funds from the Conseil Regional de Bretagne. The authors would like to thank Heike Klippert and
H, Kuiper, C, Drögemüller, S, Rak, T, Leeb, P, Quignon, C, André, O, Distl   +6 more
openaire   +2 more sources

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

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

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
doaj   +1 more source

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
doaj   +1 more source

Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale. [PDF]

Ann Clin Transl Neurol
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Rummey C, Farmer JM, Lynch DR.
europepmc   +2 more sources

Nerve Ultrasound in Patients With Friedreich Ataxia. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Kneer K, Stahl JH, Winter N, Wittlinger J, Männlin S, Gasimli T, Schöls L, Fleszar Z, Hayer S, Grimm A.   +9 more
europepmc   +2 more sources

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
doaj   +1 more source