Results 71 to 80 of about 7,170 (177)

Friedreich's ataxia: the vicious circle hypothesis revisited

BMC Medicine, 2011
Friedreich's ataxia, the most frequent progressive autosomal recessive disorder involving the central and peripheral nervous systems, is mostly associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which ...
Camadro Jean-Michel, Santos Renata, Bayot Aurélien, Rustin Pierre   +3 more
doaj   +1 more source

Human adipose stem cell-conditioned medium increases survival of Friedreich's Ataxia cells submitted to oxidative stress [PDF]

, 2012
Friedreich's ataxia (FA) is a multisystemic disorder characterized by progressive gait, ataxia, and cardiomyopathy. There are few treatments for this disease; thus, we analyzed in vitro the possible beneficial effect of adult stem cells in FA.
Bueno, Carlos Roberto, Estirado, Alicia, Jones, Jonathan, Martínez, Salvador, Redondo, Carolina   +4 more
core   +2 more sources

The Cerebellar Cognitive‐Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal‐Recessive Spastic Ataxia of Charlevoix‐Saguenay: A Large International Cross‐Sectional Study

Movement Disorders, EarlyView.
Abstract Background Neuropsychological deficits have been observed in patients with cerebellar damage, but never thoroughly investigated in autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS). Objectives The goal is the characterization of presence, severity, and profile of neuropsychological deficits in ARSACS using the cerebellar ...
Julie Fortin, Matthis Synofzik, Élyse‐Anne Pedneault‐Tremblay, Dominik Hermle, Andreas Thieme, Dagmar Timmann, Roberta La Piana, Bernard Brais, Justine Dolbec, Isabelle Côté, Cynthia Gagnon, Andreas Traschütz   +11 more
wiley   +1 more source

Auditory Neuropathy: Challenges and Significant Progress in Diagnosis and Treatment

Advanced Therapeutics, Volume 9, Issue 3, March 2026.
Auditory neuropathy is a complex disorder that causes sensorineural hearing impairment in patients. Recently, breakthrough progress has been made in the gene therapy of auditory neuropathy. This review focuses on auditory neuropathy, covering its pathophysiology, etiology, epidemiology, clinical manifestations, diagnostic techniques, treatment ...
Wen Xie, Ling Lu, Busheng Tong, Lian Fang, Qingqing Dai, Xiaowan Chen, Jieyu Qi, Xiaoyun Qian, Xia Gao, Renjie Chai, Jun Yang, Maoli Duan   +11 more
wiley   +1 more source

Protective activity of aromatic amines and imines against oxidative nerve cell death [PDF]

, 2001
Oxidative stress is a widespread phenomenon in the pathology of neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis.
Behl, Christian, Beyer, Klaus, Moosmann, Bernd, Skutella, Thomas   +3 more
core   +1 more source

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

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   +1 more source

Nerve Ultrasound in Patients With Friedreich Ataxia

Muscle &Nerve, Volume 73, Issue 3, Page 395-402, March 2026.
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 ...
Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Stephanie Männlin, Toghrul Gasimli, Ludger Schöls, Zofia Fleszar, Stefanie Hayer, Alexander Grimm   +9 more
wiley   +1 more source

Chemical synthesis of lipophilic methylene blue analogues which increase mitochondrial biogenesis and frataxin levels

Data in Brief, 2018
As part of an ongoing program to develop potential therapeutic agents for the treatment of the neurodegenerative disease Friedreich׳s ataxia (FRDA), we have prepared a number of lipophilic methylene blue analogues.
Indrajit Bandyopadhyay, Sandipan Roy Chowdhury, Nishant P. Visavadiya, Sidney M. Hecht, Omar M. Khdour   +4 more
doaj   +1 more source

Analysis of Postural Control in Sitting by Pressure Mapping in Patients with Multiple Sclerosis, Spinal Cord Injury and Friedreich’s Ataxia: A Case Series Study

Sensors, 2020
The postural control assessments in patients with neurological diseases lack reliability and sensitivity to small changes in patient functionality. The appearance of pressure mapping has allowed quantitative evaluation of postural control in sitting ...
María Mercedes Reguera-García, Raquel Leirós-Rodríguez, Lorena Álvarez-Barrio, Beatriz Alonso-Cortés Fradejas   +3 more
doaj   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 413-417, February 2026.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source