The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues [PDF]
, 2007 Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein.
C. Sandi +7 more
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Ataxia heredo-degenerativa associada a hipoacusia
Arquivos de Neuro-Psiquiatria, 1964 São estudados três irmãos, respectivamente com 16, 8 e 6 anos de idade, todos do sexo masculino, com ataxia heredo-degenerativa associada, em dois dêles, a hipoacusia. Nos antecedentes há referência a moléstia semelhante em um avô e um tio-avô.
José Antonio Levy, Ehrenfried O. Wittig
doaj +1 more source
The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meeting [PDF]
, 2019 The 2018 FARA Biomarker Meeting highlighted the current state of development of biomarkers for Friedreich's ataxia. A mass spectroscopy assay to sensitively measure mature frataxin (reduction of which is the root cause of disease) is being developed ...
Blair, Ian A. +8 more
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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
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Pediatric Neurology Briefs, 1997 Genotype-phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three smaller clinically atypical groups (Arcadian FRDA, late-onset FRDA (LOFA), and FRDA with retained reflexes (FARR)), were studied at the Centre ...
J Gordon Millichap
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Arquivos de Neuro-Psiquiatria, 2009 More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in Neurogenetics.
Emília Katiane Embiruçu +3 more
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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
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Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia
Neurología (English Edition), 2019 Introduction: Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system.
M. Arias
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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
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Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. [PDF]
, 2018 Transcriptional changes in Friedreich's ataxia (FRDA), a rare and debilitating recessive Mendelian neurodegenerative disorder, have been studied in affected but inaccessible tissues-such as dorsal root ganglia, sensory neurons and cerebellum-in animal ...
Coppola, Giovanni +11 more
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