Friedreich ataxia - Open Access .click

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Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia

, 2012
This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose.
Xiaoman Dai (126050) +54 more
core +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source

A CASE OF FRIEDREICH'S ATAXIA [PDF]

Archives of Neurology And Psychiatry, 1921
Friedreich's ataxia is still a rarity, and the opportunity to examine the spinal cord in an early stage of the disease does not often present itself. The following case is of interest because it occurred in a boy, aged 11 years, who died of an acute intercurrent disease. He had a younger brother who also had this familial affection.
openaire +2 more sources

Noninvasive Focal Gene Delivery into the Cerebellum of Non‐Human Primates using Focused Ultrasound

Advanced Science, EarlyView.
Focal and non‐invasive viral vector delivery in non‐human primates remains a major challenge in translational neuroscience. Low‐intensity focused ultrasound was used to transiently open the blood–brain barrier and enable targeted gene delivery to the cerebellum.
Noelia Esteban‐García +11 more
wiley +1 more source

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues

, 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.
Pook, MA +4 more
core +1 more source

Friedreich's Ataxia in the Elderly

Journal of International Medical Research, 1995
Friedreich's ataxia is one of the best defined and most common forms of hereditary ataxia of unknown aetiology. It is transmitted in an autosomal recessive manner, appearing sporadically, usually in childhood or adolescence. The case of an elderly patient with a possible diagnosis of late-onset Friedreich's ataxia is reported; this is thought to be the
A, Abyad, E, Kligman
openaire +2 more sources

Mitochondrial Iron-Sulfur Cluster Dysfunction In Neurodegenerative Disease

Frontiers in Pharmacology, 2014
Growing evidence supports a role for mitochondrial iron metabolism in the pathophysiology of neurodegenerative disorders such as Friedreich ataxia and Parkinson disease as well as in the motor and cognitive decline associated with the aging process. Iron-
Grazia eIsaya
doaj +1 more source

Cardiovascular Research in Friedreich Ataxia

JACC: Basic to Translational Science, 2022
Summary: Friedreich Ataxia (FRDA) is an autosomal recessive disease in which a mitochondrial protein, frataxin, is severely decreased in its expression.
R. Mark Payne, MD
doaj +1 more source

Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?

Pharmaceuticals, 2018
Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene.
David Alsina +3 more
doaj +1 more source

Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen +320 more
wiley +1 more source

humans
3. good health
frataxin

female
adult
ataxia

male
mitochondria
animals