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Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA’s Grant Program and the Treatment Pipeline.


Subclinical Myocardial Ischemia Without LV Hypertrophy in Friedreich's Ataxia

Background:

Heart failure mortality is high in patients with Friedreich’s Ataxia (FA), a genetic disorder resulting in iron accumulation within cardiomyocyte mitochondria. Due to limited mobility, cardiomyopathy in FA patients may not be detected until myocardial disease is advanced. We hypothesized that abnormal myocardial perfusion represents an early manifestation of cardiomyopathy, and can be detected with vasodilator stress cardiac magnetic resonance (CMR).

Read More: Subclinical Myocardial Ischemia Without LV Hypertrophy in Friedreich's Ataxia

The N-terminus of mature human frataxin is intrinsically unfolded

Frataxin is a highly conserved nuclear-encoded mitochondrial protein whose deficiency is the primary cause of Friedreich's ataxia, an autosomal recessive neurodegenerative disease. The frataxin structure comprises a well-characterized globular domain that is present in all species and is preceded in eukaryotes by a non-conserved N-terminal tail that contains the mitochondrial import signal.

Read More: The N-terminus of mature human frataxin is intrinsically unfolded

A comparison of three measures of upper limb function in Friedreich ataxia

Friedreich Ataxia (FRDA) is the commonest inherited ataxia. Clinical trials of pharmaceuticals are increasingly being conducted in this condition. This requires the most accurate outcome measures to enable trials to be conducted with a minimum number of subjects in the shortest time frame and to minimize the risk of false negative results. Upper limb function is a major area of morbidity in FRDA. We therefore have compared the performance of three tests of upper limb function in FRDA: the Nine Hole Peg Test (9HPT), Box and Blocks Test (BBT) and Jebsen Taylor Hand Function Test (JTHFT).

Read More: A comparison of three measures of upper limb function in Friedreich ataxia

Characterizing gait, locomotor status, and disease severity in children and adolescents with Friedreich ataxia

BACKGROUND AND PURPOSE:

The purpose of this study was to describe gait parameters in children and adolescents with a diagnosis of Friedreich ataxia (FA) and examine the relationship between disease severity, measured by the Friedreich Ataxia Rating Scale (FARS) and gait parameters. The study examined whether FARS scores can discriminate between those who walk independently and those who require assistance.

Read More: Characterizing gait, locomotor status, and disease severity in children and adolescents with Friedreich ataxia

Diverse effects in Friedreich's ataxia place PGC-1alpha center-stage

Friedreich's ataxia (FRDA), the most common inherited ataxia, is characterized by focal neurodegeneration, diabetes mellitus and life-threatening cardiomyopathy. Frataxin, which is significantly reduced in patients with this recessive disorder, is a mitochondrial iron-binding protein, but how its deficiency leads to neurodegeneration and metabolic derangements is not known.

Read More: Diverse effects in Friedreich's ataxia place PGC-1α center-stage

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