Results 11 to 20 of about 5,660 (167)

Stem Cell Transplantation in Friedreich Ataxia: Cure for Leukemia but No Effect on Neurological Progression. [PDF]

Ann Clin Transl Neurol
ABSTRACT Friedreich Ataxia (FRDA) is a neurodegenerative disorder of children and young adults associated with cardiomyopathy and other systemic complications. We report a 10‐year‐old girl who presented simultaneously with Acute Myelogenous Leukemia and FRDA who was successfully treated for her leukemia with allogeneic hematopoietic stem cell ...
Gitman A, Bhandari N, Castellaro M, Schadt K, Cancio M, Lynch DR.   +5 more
europepmc   +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

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

An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, Volume 13, Issue 7, Page 1788-1789, July 2026.
Fleszar Z, Thomas-Black G, Garcia-Moreno H, Cook A, Giunti P.   +4 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

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 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

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

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