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FARAFARA Cure FA

 

FARA Funded Research

Your generous support has funded all the research listed below.

For more information on FARA-funded research & scientists, please visit FARA Supported Research, Active Clinical Trials and the Featured Scientist.


 

 

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.

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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

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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.

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Microvascular pathology in Friedreich cardiomyopathy

Heart disease is an integral part of Friedreich ataxia (FA). In addition to cardiomyocytes getting bigger, death of muscle fibers, and inflammatory infiltration, heart tissues show fibrosis and disorganized capillaries. This group examined the left ventricular wall (LVW) of 41 homozygous and 2 compound heterozygous FA patients aged 10-87 and 21 controls aged 2-69. They quantified the numbers of capillaries for comparison with the number of cardiac cells in the same field. The median ratio of capillaries to cardiomyocytes in samples from unaffected individuals was 1.0. In FA, the number of cardiomyocytes/mm² was significantly less, and the median ratio of capillaries to heart fibers was 2.0. There was a significant correlation of the expanded guanine-adenine-adenine trinucleotides (shorter allele, GAA1) with a younger age of onset, shorter disease duration, and lower cardiomyocyte counts. The ratio of capillaries to heart fibers was higher in patients with long GAA1 repeat expansions. Data supports endothelial-to-mesenchymal transition in the pathogenesis of cardiac fibrosis in FA. We propose that the pathogenesis of FA heart disease includes primary fibrosis.

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Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia

High throughput screening of clinically used drugs identified Dimethyl fumarate (DMF) as protective in FA patient cells. This group demonstrates that DMF significantly increases frataxin gene (FXN) expression in FA cell models, FA mouse models and in DMF treated humans. DMF also rescues mitochondrial biogenesis deficiency in FA-patient derived cell models. In FA patient cells, they demonstrate that DMF significantly increases initiation of new FXN transcripts and reduction in DNA structures thought to slow FXN production, significantly increasing FXN expression. Lastly, DMF dosed Multiple Sclerosis (MS) patients showed significant increase in FXN expression by ~85%. As deficiency in FXN is the primary cause of FA, and DMF is demonstrated to increase FXN expression in humans, with further work DMF could be a possible therapy for FA.

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