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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.


Decreased functional brain activation in Friedreich ataxia using the Simon effect task

The present study applied the Simon effect task to examine the pattern of functional brain reorganization in individuals with Friedreich ataxia (FRDA), using functional magnetic resonance imaging (fMRI). Thirteen individuals with FRDA and 14 age and sex matched controls participated, and were required to respond to either congruent or incongruent arrow stimuli, presented either to the left or right of a screen, via laterally-located button press responses.

Read More: Decreased functional brain activation in Friedreich ataxia using the Simon effect task

Scoliosis in patients with Friedreich's ataxia

We reviewed 31 consecutive patients with Friedreich’s ataxia and scoliosis. There were 24 males and seven females with a mean age at presentation of 15.5 years (8.6 to 30.8) and a mean curve of 51° (13° to 140°). A total of 12 patients had thoracic curvatures, 11 had thoracolumbar and eight had double thoracic/lumbar. Two patients had long thoracolumbar collapsing scoliosis with pelvic obliquity and four had hyperkyphosis. Left-sided thoracic curves in nine patients (45%) and increased thoracic kyphosis differentiated these deformities from adolescent idiopathic scoliosis.

Read More: Scoliosis in patients with Friedreich's ataxia

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.

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

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.

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

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