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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.


Sexual function, intimate relationships and Friedreich ataxia

Sexual dysfunction (SD) is reported in neurological conditions similar to Friedreich ataxia (FRDA). Anecdotally individuals with FRDA report SD including erectile dysfunction and altered genital sensation. Understanding SD in FRDA assists health professionals identify SD issues and improve healthcare for individuals with FRDA. The objective of this study is to quantify if, and to what extent, people with FRDA experience challenges with sexual function and intimate relationships as a result of primary (genital function), secondary (physical) and tertiary (psychosocial) dysfunction. An online purpose designed anonymous questionnaire explored SD and intimate relationships. Invitations to participate were sent to individuals with FRDA aged 18 years and over on the Ataxia UK and Friedreich Ataxia Research Alliance databases. Date collection occurred between January and July, 2017. One-hundred-and-seventy-nine adults with FRDA participated, of which 107 reported current or previous sexual activity. Erectile dysfunction was reported in 57% (20/35) of males, inadequate vaginal lubrication interfering with sexual responsiveness was reported in 57.7% (26/45) of females, and 47% (51/107) reported reduced genital sensation. In addition, 88% (94/107) reported problems moving their body during sexual activity and 73% (78/107) reported reduced confidence about their sexuality due to FRDA. A significant negative relationship was shown between younger age of disease onset and SD. This study confirmed FRDA impacts sexual functioning, sexual satisfaction and the capacity to form intimate relationships. Understanding the nature and extent of SD is critical to developing interventions and recommendations designed to enhance sexual function, sexuality, and intimate relationships for individuals with FRDA.

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Assessment of Disease Progression in Friedreich Ataxia using an Instrumented Self Feeding Activity

In Friedreich ataxia (FRDA), it is important to monitor the progression of ataxia over periods of time for clinical and therapeutic interventions. This study was aimed at investigating the use of the instrumented measurement scheme of utilizing a motion detecting spoon in a self-feeding activity to quantify the longitudinal effect of FRDA on upper limb function. Forty individuals diagnosed with FRDA (32.8±14.9 years old) were recruited in a 12-month longitudinal study consisting of equal number of males and females (20). A set of biomarkers was extracted from the temporal and texture analysis of the movement time series data that objectively detected subtle changes during follow-up testing. The results indicated that both analyses generated features that resembled clinical ratings. Although the diagnosis and severity related performances were readily observed by temporal features, the longitudinal progression was better captured by the textural features (p = 0.029). The estimation of severity by mean of random forest regression model and LASSO exhibited a high degree of parity with the standard clinical scale (rho = 0.73, p < 0.001).

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Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population

Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of inherited neurodegenerative disorders. The aim of this study was to present the clinical and genetic features of patients with ataxia complaints and those genetically diagnosed with ARCAs. Thirty-one children with ARCA were retrospectively analyzed. Fourteen (45.2%) were boys and 17 (54.8%) were girls with the mean age at onset of symptoms of 46.13 ± 26.30 months (12-120 months). Of the 31 patients, 21 (67.7%) were from consanguineous marriages. Eight patients had Friedreich's ataxia, five had ataxia telangiectasia, three had L-2-hydroxyglutaric aciduria, three had Joubert syndrome, two had neuronal ceroid lipofuscinosis, two had megalencephalic leukoencephalopathy with subcortical cysts, two had ataxia with ocular motor oculomotor apraxia type 1, one had cytochrome c oxidase deficiency, one had autosomal recessive spastic ataxia of Charlevoix-Saguenay, one had Niemann-Pick type C, one had congenital disorders of glycosylation, one had adrenoleukodystrophy, and one had cobalamin transport disorder. The prevalence of hereditary ataxia can vary among countries. The consanguineous marriage is an important finding in these diseases. These genetic tests will increase the number of ARCA patients diagnosed.

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Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells

The molecular mechanisms of reduced frataxin (FXN) expression in Friedreich's ataxia (FRDA) are linked to epigenetic modification of the FXN locus caused by the disease-associated GAA expansion. Here, the authors identify that SUV4-20 histone methyltransferases, specifically SUV4-20 H1, play an important role in the regulation of FXN expression and represent a novel therapeutic target. Using a human FXN-GAA-Luciferase repeat expansion genomic DNA reporter model of FRDA, the Structural Genomics Consortium epigenetic probe collection was screened. This study found that pharmacological inhibition of the SUV4-20 methyltransferases by the tool compound A-196 increased the expression of FXN by approximately 1.5-fold in the reporter cell line. In several FRDA cell lines and patient-derived primary peripheral blood mononuclear cells A-196 increased FXN expression by up to 2-fold, an effect not seen in wild-type cells. SUV4-20 inhibition was accompanied by a reduction in H4K20me2 and H4K20me3 and an increase in H4K20me1, but only modest (1.4-7.8%) perturbation in genome-wide expression was observed. Finally, based on the structural activity relationship and crystal structure of A-196, novel small molecule A-196 analogues were synthesized and shown to give a 20-fold increase in potency for increasing FXN expression. Overall, these results suggest that histone methylation is important in the regulation of FXN expression, and highlight SUV4-20 H1 as a potential novel therapeutic target for FRDA.

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Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations

This study assessed the clinimetric properties of ataxia rating scales and functional tests, and made recommendations regarding their use. A systematic literature search was conducted to identify the instruments used to rate ataxia symptoms. The identified rating scales and functional ability tests were reviewed and ranked by the panel as "recommended," "suggested," or "listed" for the assessment of patients with discrete cerebellar disorders, using previously established criteria. 14 instruments (9 rating scales and 5 functional tests) were reviewed. "Recommended" rating scales for the assessment of symptoms severity were: for Friedreich's ataxia, the Friedreich's Ataxia Rating Scale, the International Cooperative Ataxia Rating Scale (ICARS), and the Scale for the Assessment and Rating of Ataxia (SARA); for spinocerebellar ataxias, ICARS and SARA; for ataxia telangiectasia: ICARS and SARA; for brain tumors, SARA; for congenital disorder of glycosylation-phosphomannomutase-2 deficiency, ICARS; for cerebellar symptoms in multiple sclerosis, ICARS; for cerebellar symptoms in multiple system atrophy: Unified Multiple System Atrophy Rating Scale and ICARS; and for fragile X-associated tremor ataxia syndrome, ICARS. "Recommended" functional tests were: for Friedreich's ataxia, Ataxia Functional Composite Score and Composite Cerebellar Functional Severity Score; and for spinocerebellar ataxias, Ataxia Functional Composite Score, Composite Cerebellar Functional Severity Score, and SCA Functional Index. Some "recommended" scales and functional tests for the assessment of patients with major hereditary ataxias and other cerebellar disorders were identified. The main limitations of these instruments include the limited assessment of patients in the more severe end of the spectrum and children. Further research in these populations is warranted.

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