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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.



Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia

This group used magnetoencephalography to investigate the developmental vs progressive character of the impairment of spinocortical proprioceptive pathways in Friedreich ataxia (FRDA). Neuromagnetic signals were recorded from 16 right-handed patients with FRDA (9 female patients, mean age 27 years, mean Scale for the Assessment and Rating Of ataxia [SARA] score 22.25) and matched healthy controls while they performed right finger movements either actively or passively. The coupling between movement kinematics (i.e., acceleration) and neuromagnetic signals was assessed by the use of coherence at sensor and source levels. Such coupling, that is, the corticokinematic coherence (CKC), specifically indexes proprioceptive afferent inputs to the contralateral primary sensorimotor (cSM1) cortex. Nonparametric permutations and Spearman rank correlation test were used for statistics. In both groups of participants and movement conditions, significant coupling peaked at the cSM1 cortex. Coherence levels were 70% to 75% lower in patients with FRDA than in healthy controls in both movement conditions. In patients with FRDA, coherence levels correlated with genotype alteration (i.e., the size of GAA1 triplet expansion) and the age at symptom onset but not with disease duration or SARA score. This study provides electrophysiologic evidence demonstrating that proprioceptive impairment in FRDA is mostly genetically determined and scarcely progressive after symptom onset. It also positions CKC as a potential biomarker of proprioceptive impairment in FRDA.

Read the entire article HERE

Open label Pilot Study of Oral Methylprednisolone for the Treatment of Patients with Friedreich Ataxia

This group assessed the effect of methylprednisolone on safety, tolerability and ability in Friedreich Ataxia (FRDA). The study was an open-label trial of pulse methylprednisolone on 11 participants with FRDA. All participants followed a 28-day treatment cycle, repeated 7 times. Patients were assessed with the timed 25 foot walk (T25FW), 1-minute walk (1MW), the Friedreich Ataxia Rating Scale (FARS), and 9-Hole Peg Test (9HPT). Efficacy was tested by comparing baseline and week 26 visits, separated into adult and pediatric groups. In comparisons of participants' baseline and week 26 visits, only the pediatric cohort's 1MW score showed change (p

Read the entire article HERE

Deuterated Polyunsaturated Fatty Acids Reduce Oxidative Stress and Extend the Lifespan of C. elegans

Chemically reinforced essential fatty acids (FAs) promise to fight numerous age-related diseases including Alzheimer's, Friedreich's ataxia and other neurological conditions. The reinforcement is achieved by substituting the atoms of hydrogen with the isotope deuterium. This substitution leads to a significantly slower oxidation, inhibiting membrane damage. The approach has the advantage of preventing the harmful accumulation of reactive oxygen species (ROS) by inhibiting the propagation of lipid peroxidation while antioxidants potentially neutralize beneficial oxidative species. Here, we developed a model system to mimic the human dietary requirement of omega-3 in a worm model to study the role of deuterated polyunsaturated fatty acids (D-PUFAs). Deuterated trilinolenin [D-TG(54:9)] was sufficient to prevent the accumulation of lipid peroxides and to reduce the accumulation or ROS. Moreover, D-TG(54:9) significantly extended the lifespan of worms under normal and oxidative stress conditions. These findings demonstrate that D-PUFAs can be used as a food supplement to decelerate the aging process, resulting in extended lifespan.

Read the entire article HERE

Altered neocortical tactile but preserved auditory early change detection responses in Friedreich ataxia

This group used magnetoencephalography (MEG) to study the spatio-temporal dynamics of responses involved in sensory processing in the neocortex, and the identify any early changes that might occur in FA. They looked at tactile (TERs) and auditory (AERs) evoked responses and early neocortical change detection responses indexed by the mismatch negativity (MMN) in sixteen FRDA patients and matched healthy subjects. They looked for correlations between the maximal amplitude of each response, genotype and clinical parameters. They found that evoked responses were detectable in all FRDA patients but one. In patients, TERs were delayed and reduced in amplitude, while AERs were only delayed. Only tactile MMN responses at the contralateral secondary somatosensory cortex were altered in FRDA patients. Maximal amplitudes of TERs, AERs and tactile MMN correlated with genotype, but did not correlate with clinical parameters. The authors conclude that in FRDA, the amplitude of tactile MMN responses are reduced and correlate with the genotype, while auditory MMN responses are not altered.

Read the entire article HERE

Young Investigators: Call for Abstracts, 12th Annual FA Symposium

Young investigators are invited to present posters at the 12th Annual Friedreich’s Ataxia Symposium hosted by The Children’s Hospital of Philadelphia (CHOP) and FARA at a welcome reception on the evening of Sunday, October 13, and throughout the day on Monday, October 14, 2018 at the Crowne Plaza Valley Forge in King of Prussia, PA. This symposium presents an opportunity to share your work not only with colleagues but also with the patient community. Priority will be given to those who can best present to a lay audience. Deadline for submissions: July 15th, 2019.

Call for abstracts
Abstract submission form

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