Results 41 to 50 of about 5,562 (221)

Vitamin E Level In Friedreich’s Ataxic Phenotype Patients In Four Major Hospitals In Baghdad

مجله كليه طب الكندي, 2019
Background: Friedreich ataxia (FRDA) is the most common form of inherited ataxia, comprising one-half of all hereditary ataxias with a carrier rate between 1 in 60 to 1 in 90 and with a disease prevalence of 1 per 29,000.
Ahmed Hasan Ahmed
doaj   +1 more source

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Background: Friedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN ...
Anjomani-Virmouni, S, Ezzatizadeh, V, Madhavi Sandi, Al-Mahdawi, S, Al-Mahdawi Sahar, Anjomani-Virmouni Sara, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sandi, C, Sandi Madhavi, Sandi, M, Pook, MA, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Ezzatizadeh Vahid, Pook Mark A., Mark A Pook   +17 more
core   +1 more source

Expression of human frataxin is regulated by transcription factors SRF and TFAP2.

PLoS ONE, 2010
BackgroundFriedreich ataxia is an autosomal recessive neurodegenerative disease caused by reduced expression levels of the frataxin gene (FXN) due to expansion of triplet nucleotide GAA repeats in the first intron of FXN.
Kuanyu Li, Anamika Singh, Daniel R Crooks, Xiaoman Dai, Zhuangzhuang Cong, Liang Pan, Dung Ha, Tracey A Rouault   +7 more
doaj   +1 more source

Ataxia with Vitamin E Deficiency

Pediatric Neurology Briefs, 1997
Vitamin E adminstration (100 U/kg daily) resulted in improvements in ataxia, motor strength, and mobility in 2 siblings of a consanguineous Bedouin family with Friedreich ataxia and low serum vitamin E levels treated at Soroka Medical Center, Beer Sheva,
J Gordon Millichap
doaj   +1 more source

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes

Tremor and Other Hyperkinetic Movements, 2016
Background: The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia.
Toni S. Pearson
doaj   +1 more source

Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia. [PDF]

PLoS ONE, 2009
BACKGROUND: Friedreich ataxia originates from a decrease in mitochondrial frataxin, which causes the death of a subset of neurons. The biochemical hallmarks of the disease include low activity of the iron sulfur cluster-containing proteins (ISP) and ...
Vincent Paupe, Emmanuel P Dassa, Sergio Goncalves, Françoise Auchère, Maria Lönn, Arne Holmgren, Pierre Rustin   +6 more
doaj   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

, 2006
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA repeat expansion, its unstable dynamics within different cells and tissues, and ...
Pinto, Ricardo Mouro, Blake, Julian, Al-Mahdawi, S, Lowrie, Margaret B., Hughes, Sian, Pook, Mark A., Webster, Zoe, Varshney, Dhaval, Pook, MA, Lawrence, Lorraine, King, Rosalind, Cooper, J. Mark, Al-Mahdawi, Sahar, Mouro Pinto, R   +13 more
core   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
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
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS

Annals of Clinical and Translational Neurology, 2022
The ever‐increasing body of ataxia research provides opportunities for large‐scale meta‐analyses, systematic reviews, and data aggregation. Because multiple standardized scales are used to quantify ataxia severity, harmonization of these measures is ...
Christian Rummey, Ian H. Harding, Martin B. Delatycki, Geneieve Tai, Thiago Rezende, Louise A. Corben   +5 more
doaj   +1 more source