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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.

Psychometric properties of the Friedreich Ataxia Rating Scale

This study aims at investigating the psychometric properties of the Friedreich Ataxia Rating Scale neurologic examination (FARSn) and its subscores, as well as the influence of the modifications resulting in the now widely used modified FARS (mFARS) examination. Based on cross-sectional FARS data from the FA-Clinical Outcome Measures cohort, this group conducted correlation-based psychometric analyses to investigate the interplay of items and subscores within the FARSn/mFARS constructs. The results provide support for both the FARSn and the mFARS constructs, as well as individually for their upper limb and lower limb coordination components. The omission of the peripheral nervous system subscore (D) and 2 items of the bulbar subscore (A) in the mFARS strengthens the overall construct compared with the complete FARS. A correlation-based psychometric analysis of the neurologic FARSn score justifies the overall validity of the scale. In addition, omission of items of limited functional significance as created in the mFARS improves the features of the measures. Such information is crucial to the ongoing application of the mFARS in natural history studies and clinical trials. Additional analyses of longitudinal changes will be necessary to fully ascertain its utility, especially in nonambulant patients.

Read the entire article HERE

Correlation of Visual Quality of Life With Clinical and Visual Status in Friedreich Ataxia

The primary objective of this study was to determine the association of patient-reported vision-specific quality of life to disease status and visual function in patients with Friedreich's ataxia (FRDA). Patients with FRDA were assessed with the 25-Item National Eye Institute Visual Functioning Questionnaire (NEI-VFQ-25) along with measures of disease status (ataxia stage) and visual function (low- and high-contrast letter acuity scores). The relations of NEI-VFQ-25 scores to those for disease status and visual function were examined. Scores for the NEI-VFQ-25 were lower in patients with FRDA (n = 99) compared with published disease-free controls, particularly reduced in a subgroup of FRDA patients with features of early onset, older age, and abnormal visual function. The NEI-VFQ-25 captures the subjective component of visual function in patients with FRDA.

Read the entire article HERE

Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue

Brown adipose tissue (BAT) is a mitochondria-enriched and anti-diabetic tissue that turns excess energy into heat to maintain metabolic homeostasis. This study reports that the frataxin (FXN) knock-in/knock-out (KIKO) mouse shows hyperlipidemia, reduced energy expenditure and insulin sensitivity, and elevated plasma leptin, recapitulating type 2 diabetes (T2D)-like signatures. FXN deficiency leads to disrupted mitochondrial ultrastructure and oxygen consumption as well as lipid accumulation in BAT. Transcriptomic data highlights cold intolerance in association with iron-mediated cell death (ferroptosis). Impaired PKA-mediated lipolysis and expression of genes controlling mitochondrial metabolism, lipid catabolism and adipogenesis were observed in BAT of KIKO mice as well as in FXN-deficient T37i brown and primary adipocytes. Significant susceptibility to ferroptosis was observed in adipocyte precursors that showed increased lipid peroxidation and decreased glutathione peroxidase 4. Collectively these data point to BAT dysfunction in FRDA and suggest BAT as promising therapeutic target to overcome T2D in FRDA.

Read the entire article HERE

Imaging neuronal activity in the central and peripheral nervous systems using new Thy1.2-GCaMP6 transgenic mouse lines

The genetically encoded calcium (Ca2+) sensor GCaMP6 has been widely used for imaging Ca2+ transients in neuronal somata, dendrites, and synapses. Here the authors describe five new transgenic mouse lines expressing GCaMP6F (fast) or GCaMP6S (slow) in the central and peripheral nervous system under the control of theThy1.2 promoter. These transgenic lines exhibit stable and layer-specific expression of GCaMP6 in multiple brain regions. They have several unique features compared to existingThy1.2-GCaMP6 mice, including sparse expression of GCaMP6 in layer V pyramidal neurons of the cerebral cortex, motor neurons in the spinal cord, as well as sensory neurons in dorsal root ganglia (DRG). These mouse lines allow for robust detection of Ca2+ transients in neuronal somata and apical dendrites in the cerebral cortex of both anesthetized and awake behaving mice, as well as in DRG neurons. These transgenic lines allows calcium imaging of dendrites and somas of pyramidal neurons in specific cortical layers that is difficult to achieve with existing methods.

Read the entire article HERE

An Instrumented Measurement Scheme for the Assessment of Upper Limb Function in Individuals with Friedreich Ataxia

Continuous and objective assessment is essential for accurate monitoring of the progression of neurodegenerative conditions such as Friedreich ataxia. However, current clinical assessments predominantly rely on the ability of the affected individual to complete specific clinical tests which may not capture the intricate kinematic details associated with ataxia. Moreover, such testing often consists of a level of subjectivity of the assessing clinician. In this paper, the authors propose an objective measuring instrument, in the form of a spoon, equipped with the Internet-of-Things (IoT) based system and relevant machine learning techniques to quantitatively assess impairment levels while engaged in routine daily activity. In a clinical study involving individuals diagnosed with Friedreich ataxia, movement patterns during a simulated eating task were captured and kinematic biomarkers were extracted that were consistent with the frequently-used clinical rating scales. Multivariate analysis of these biomarkers allowed to accurately classify individuals with Friedreich ataxia and control subjects to an accuracy of 91%. Furthermore, the kinematic information captured from the spoon can be used to introduce an alternative assessment scheme with a greater sensitivity to ataxic movements and with less inter-rater discrepancy.

Read the entire article HERE

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