Results 21 to 30 of about 9,290 (208)
Diagnosing Friedreich's ataxia [PDF]
Archives of Disease in Childhood, 1998 Clinical diagnosis is still of the utmost importance and following our review of cases diagnosed using the strict criteria, 100% were homozygous for the expansion. However, now that there is a relatively simple direct genetic test, the diagnosis can be considered in more unusual cases.
openaire +2 more sources
The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases [PDF]
, 2014 Copyright © 2014 Al-Mahdawi, Anjomani Virmouni and Pook. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY).
Al-Mahdawi, S, Pook, MA, Virmouni, SA
core +1 more source
Neurological Research and Practice, 2019 Introduction Currently, no treatment that delays with the progression of Friedreich ataxia is available. In the majority of patients Friedreich ataxia is caused by homozygous pathological expansion of GAA repeats in the first intron of the FXN gene ...
Kathrin Reetz +22 more
doaj +1 more source
Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich's Ataxia: an observational study [PDF]
, 2015 Background: Friedreich’s ataxia (FRDA) is the most common hereditary autosomal recessive form of ataxia. In this disease there is early manifestation of gait ataxia, and dysmetria of the arms and legs which causes impairment in daily activities that ...
Bertini, Enrico +7 more
core +2 more sources
Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family
Clinical Case Reports, 2021 Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family.
Cheick A. K. Cissé +17 more
doaj +1 more source
Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region [PDF]
, 2016 The aim of this study is to investigate the folding reaction of human frataxin, whose deficiency causes the neurodegenerative disease Friedreich’s Ataxia (FRDA).
Faraj, Santiago Enrique +3 more
core +1 more source
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare
Frontiers in Cellular Neuroscience, 2018 Friedreich ataxia is a multi-system autosomal recessive inherited disorder primarily caused by homozygous GAA repeat expansion mutations within intron 1 of the frataxin gene. The resulting deficiency of frataxin protein leads to progressive mitochondrial
Sahar Al-Mahdawi +9 more
doaj +1 more source
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]
, 2018 Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non ...
Bertini, Enrico +10 more
core +1 more source
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