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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.

Friedreich ataxia- pathogenesis and implications for therapies

This is a review article focusing on the insights into the pathogenesis of this disorder and how those insights are being translated into novel therapeutic approaches. For example, more recently, a role for inflammation has emerged as being important in the pathogenesis of Friedreich ataxia. These findings have led to a number of potential therapies that have been subjected to clinical trials or are being developed toward human studies. Therapies that have been proposed include pharmaceuticals that increase frataxin levels, protein and gene replacement therapies, antioxidants, iron chelators and modulators of inflammation. While no therapies have yet been approved for Friedreich ataxia, there is much optimism that the advances in the understanding of the pathogenesis of this disorder since the discovery its genetic basis, will result in approved disease modifying therapies in the near future.

Read the entire article HERE

The Working Life of People with Degenerative Cerebellar Ataxia

The aim of the present study was to characterize and analyze the most important individual and organizational variables associated with job accommodation in subjects with degenerative cerebellar ataxia by administering a series of international and validated work activity-related scales. Twenty-four workers (W) and 58 non-workers (NW) were recruited: 34 with autosomal dominant ataxia and 48 with autosomal recessive ataxia (27 with Friedreich ataxia and 21 with sporadic adult-onset ataxia of unknown etiology). The severity of ataxia was rated using the Scale for the Assessment and Rating of Ataxia. Our results showed that the ataxic W were predominantly middle-aged (41-50 years), high school graduate, and married men with a permanent work contract, who had been working for more than 7 years. The W with ataxia exhibited a good level of residual working capacity, irrespective of gender, age range, and duration of the disease, and they were observed to have a low or average-to-low job stress-related risk. Supporting patients with ataxia to find an appropriate job is an important priority because about 78% of NW search for a job and W and NW have the same potential work abilities (no relevant differences were found in terms of disease characteristics, gender, and work resilience). In this view, introducing NW to work-life may have a potential rehabilitative aspect. Findings of this study highlight that equal job opportunities for subjects affected by cerebellar ataxia are recommended.

Read the entire article HERE

Backbone resonance assignments and secondary structure of the apo-Drosophila melanogaster frataxin homolog (Dfh)

Frataxin plays an essential role in cellular iron regulation and has been shown to participate in the assembly of iron-sulfur (Fe-S) clusters under a variety of roles, including modulating persulfide production and directing Fe(II) delivery to the assembly scaffold protein. While the activity and structure of multiple eukaryotic frataxin orthologs have been characterized, the fly ortholog has numerous advantages over other orthologs with regards to protein stability, its activity towards Fe-S cluster assembly and its stability for forming stable proteins partner assemblies. Given the obvious advantages for studying the Drosophila melanogaster frataxin homolog (Dfh) over its orthologs, we have undertaken a structural characterization of apo-Dfh as the first step towards solving the solution structure of the protein alone and in complex with protein partners within the Fe-S cluster assembly pathway.

Read the entire article HERE

Application of Quantitative Motor Assessments in Friedreich Ataxia and Evaluation of Their Relation to Clinical Measures

As common clinical measures for Friedreich's ataxia (FRDA) can lack sensitivity, we explored whether (a) the quantitative motor assessments of the Q-Motor battery can enhance clinical characterisation of FRDA; (b) clinical measures can predict Q-Motor outcomes and (c) Q-Motor is sensitive to longitudinal change. At baseline 29 patients and 23 controls and in a 1-year follow-up 14 patients and 6 controls were included. The Q-Motor included lift (manumotography), finger tapping (digitomotography) and pronate/supinate (dysdiadochomotography) tasks. To model responses, a search of generalised linear models was conducted, selecting best fitting models, using demographic and clinical data as predictors. Predictors from selected models were used in linear mixed models to investigate longitudinal changes. Patients with FRDA performed worse than controls on most measures. Modelling of the pronate/supinate task was dominated by SCAFI (SCA functional index) subtasks, while tapping task and lift task models suggested a complex relationship with clinical measures. Longitudinal modelling implied minor changes from baseline to follow-up, while clinical scales mainly showed no change in this sample. Overall Q-Motor likely has favourable properties for assessing distinct motor aspects in severe FRDA as it can be administered in wheelchair-bound patients. Further longitudinal research is warranted to fully characterise its relation to routinely used measures and scales for FRDA.

Read the entire article HERE

Oral mobility reflects rate of progression in advanced Friedreich's ataxia

The objective was to identify a sensitive marker of disease progression in Friedreich's ataxia. This study prospectively evaluated speech, voice, and oromotor function in 40 patients at two time points. The mean disease duration was 20.8 ± 9.8 years and mean SARA score 23.7 ± 8.6 at baseline. Oral motor mobility, assessed by a combination of movements of the face, eyes, cheeks, lips, and tongue, decreased significantly after 1 year (P

Read the entire article HERE

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