FARA - Scientific News

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.

Estrogen Prevents Oxidative Damage to the Mitochondria in Friedreich's Ataxia Skin Fibroblasts

Estrogen and estrogen-related compounds have been shown to have very potent cytoprotective properties in a wide range of disease models, including an in vitro model of Friedreich's ataxia (FRDA). This study describes a potential estrogen receptor (ER)-independent mechanism by which estrogens act to protect human FRDA skin fibroblasts from a BSO-induced oxidative insult resulting from inhibition of de novo glutathione (GSH) synthesis.

Abstracts to be presented at the American Academy of Neurology April 21-28

Impairment of the Vestibulo-Cerebellar Interaction in Friedreich's Ataxia T2 Relaxation Time Correlates with Disease Severity in Friedreich's Ataxia An Induced Pluripotent Stem Cell Model for Friedreich's Ataxia

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Abstracts to be presented at the American Academy of Neurology April 21-28

Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people with Friedreich ataxia

OBJECTIVES:

To determine the effects of inpatient intervention for people with Friedreich ataxia (FRDA), and to identify whether improvements gained were sustained postdischarge.

DESIGN:

This retrospective observational cohort study comprised people with FRDA admitted to inpatient rehabilitation.

SETTING:

All participants in the study were referred by a specialist multidisciplinary FRDA clinic to inpatient rehabilitation.

Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model

Friedreich's ataxia (FRDA) is the most common hereditary ataxia, affecting approximately 3 in 100,000 individuals in Caucasian populations. It is caused by intronic GAA repeat expansions that hinder the expression of the FXN gene, resulting in defective levels of the mitochondrial protein frataxin. Sensory neurons in dorsal root ganglia (DRG) are particularly damaged by frataxin deficiency. There is no specific therapy for FRDA.

Cardiac Dysfunction Exacerbated by Endocrinopathies in Friedreich Ataxia: A Case Series

Friedreich ataxia is a neurodegenerative disease characterized by gait abnormalities, cardiomyopathy, and diabetes. Congestive heart failure was recently reported as the most frequent cause of Friedreich ataxia mortality. Cardiac dysfunction is suspected to result from a frataxin deficiency that leads to oxidative damage in cardiac tissues and possible metabolic syndrome characteristics.