Results 11 to 20 of about 6,264 (195)

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

Annals of Clinical and Translational Neurology
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 ...
Christian Rummey, Jennifer M. Farmer, David R. Lynch   +2 more
doaj   +3 more sources

Coexistence of Friedreich's Ataxia and Esophageal Cancer: A Case Report [PDF]

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Friedreich's ataxia (FA) is a rare autosomal recessive neurodegenerative disorder. Although FA is frequently associated with cardiomyopathy and diabetes mellitus, its coexistence with solid malignancies is exceptionally rare. To date, only a limited number of gastrointestinal cancers have been reported in patients with FA.
Alireza Mehrban, Abdolreza Babamahmoodi, Mohammad Taghi Hamidian, Bahar Amiri, Parand Ramzani, Mehdi Karimi   +5 more
wiley   +2 more sources

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late [PDF]

Annals of Clinical and Translational Neurology
Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with ...
Kathrin Reetz, Stella A. Lischewski, Jörg B. Schulz, Maximilian Praster, Miguel Pishnamaz, the FACROSS study group, Imis Dogan, Sandro Romanzetti, Ravi Dadsena, Kerstin Konrad, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Nikolaus Marx, Julia Moellmann, Malte Jacobsen, Katharina Marx‐Schütt, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +20 more
doaj   +2 more sources

Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics [PDF]

Annals of Indian Academy of Neurology
Background and Aim: Friedreich's ataxia (FRDA) is a common cause of autosomal recessive cerebellar ataxia. The phenotype is dependent on the repeat size and duration of the disease.
Rohan Mahale, Meera Purushottam, Raviprakash Singh, Ramachandra Yelamanchi, Nitish Kamble, Vikram Holla, Pramod K. Pal, Sanjeev Jain, Ravi Yadav   +8 more
doaj   +2 more sources

Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study [PDF]

Annals of Clinical and Translational Neurology
Objectives Friedreich ataxia (FRDA) is a rare genetic disorder caused by mutations in the FXN gene, leading to progressive coordination loss and other symptoms. The recently approved omaveloxolone targets this condition but is limited to patients over 16 
Christian Rummey, Susan Perlman, Sub. H. Subramony, Jennifer Farmer, David R. Lynch   +4 more
doaj   +2 more sources

Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp (CTI‐1601) in Friedreich's ataxia [PDF]

Annals of Clinical and Translational Neurology
Objective Current treatments for Friedreich's ataxia, a neurodegenerative disorder characterized by decreased intramitochondrial frataxin, do not address low frataxin concentrations.
Russell Clayton, Teresa Galas, Noreen Scherer, Jennifer Farmer, Nancy Ruiz, Mohamed Hamdani, Devin Schecter, David Bettoun   +7 more
doaj   +2 more sources

Anti-gene oligonucleotides targeting Friedreich’s ataxia expanded GAA⋅TTC repeats increase Frataxin expression [PDF]

Molecular Therapy: Nucleic Acids
Friedreich’s ataxia is a progressive, autosomal recessive ataxia caused, in most cases, by homozygous expansion of GAA⋅TTC triplet-repeats in the first intron of the Frataxin gene.
Negin Mozafari, Salomé Milagres, Tea Umek, Cristina S.J. Rocha, Claudia M. Vargiu, Fiona Freyberger, Osama Saher, Marek Napierala, Jill S. Napierala, Pontus Blomberg, Per T. Jørgensen, Tanel Punga, C. I. Edvard Smith, Jesper Wengel, Rula Zain   +14 more
doaj   +2 more sources

FDA Approves Omaveloxolone based on Successful Moxie Trial Results for Friedreich's Ataxia - Review

Journal of Education, Health and Sport, 2023
Introduction: In recent years, the medical community has witnessed a significant breakthrough in the treatment of Friedreich's Ataxia (FRDA), a rare and debilitating genetic disorder affecting the nervous system.
Krzysztof Kania, Joanna Kania, Karolina Niekurzak, Maciej Jędrak, Maciej Józefiak, Piotr Sobkiewicz   +5 more
doaj   +1 more source

Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy

Annals of Noninvasive Electrocardiology, 2021
Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, with a broad clinical phenotype characterized by progressive gait and limb ataxia, dysarthria, and loss of ...
Sandra Mastroianno, Michele Germano, Angela Maggio, Raimondo Massaro, Domenico Rosario Potenza, Aldo Russo, Massimo Carella, Giuseppe Di Stolfo   +7 more
doaj   +1 more source

Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study. [PDF]

PLoS ONE, 2016
Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the ...
Gessica Vasco, Simone Gazzellini, Maurizio Petrarca, Maria Luisa Lispi, Alessandra Pisano, Marco Zazza, Gessica Della Bella, Enrico Castelli, Enrico Bertini   +8 more
doaj   +1 more source