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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.

Clinical Therapeutic Management of Human Mitochondrial Disorders

Despite recent advances in the elucidation of etiology and pathogenesis of mitochondrial disorders, their therapeutic management remains challenging. This review focuses on currently available therapeutic options for human mitochondrial disorders. Current treatment of mitochondrial disorders relies on symptomatic, multidisciplinary therapies of various manifestations in organs such as the brain, muscle, nerves, eyes, ears, endocrine organs, heart, intestines, kidneys, lungs, bones, bone marrow, cartilage, immune system, and skin. If respiratory chain functions are primarily or secondarily impaired, antioxidants or cofactors should be additionally given one by one. All patients with mitochondrial disorders should be offered an individually tailored diet and physical training program. Irrespective of the pathogenesis, all patients with mitochondrial disorders should avoid exposure to mitochondrion-toxic agents and environments. Specific treatment can be offered for stroke-like episodes, mitochondrial epilepsy, mitochondrial neurogastrointestinal encephalopathy, Leber hereditary optic neuropathy, thiamine-responsive Leigh syndrome, primary coenzyme Q deficiency, primary carnitine deficiency, Friedreich ataxia, ethylmalonic encephalopathy, acyl-CoA dehydrogenase deficiency, pyruvate dehydrogenase deficiency, and hereditary vitamin E deficiency. Preventing the transmission of mitochondrial DNA-related mitochondrial disorders can be achieved by mitochondrion replacement therapy (spindle transfer, pronuclear transfer). In conclusion, specific and nonspecific therapies for human mitochondrial disorders are available, and beneficial effects have been anecdotally reported. However, double-blind, placebo-controlled studies to confirm effectiveness are lacking for the majority of the measures applied to mitochondrial disorders. Transmission of certain mitochondrial disorders can be prevented by mitochondrion replacement therapy. A multidisciplinary approach is required to meet the therapeutic challenges of patients with mitochondrial disorders.

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Longitudinal Study of Cognitive Functioning in Friedreich's Ataxia

To date, the evolution of cognitive functioning in Friedreich's ataxia (FRDA) is unknown. The aim of this study was to investigate the changes in the cognitive functioning of FRDA patients over an average eight-year timeframe. In addition, we aimed to study the relationship between cognitive changes and clinical variables. Twenty-nine FRDA patients who had been part of the sample of a previous study participated in the present study. The mean average time between the two assessments was 8.24 years. The participants completed an extensive battery of neuropsychological tests chosen to examine cognitive functioning in various cognitive domains: processing speed, attention, working memory, executive functions, verbal and visual memory, visuoperceptive and visuospatial skills, visuoconstructive functions and language. At follow-up, cerebellar symptoms had worsened, and patients presented greater disability. Differences between baseline and follow-up were observed in motor and cognitive reaction times, several trials of the Stroop test, semantic fluency, and block designs. No other cognitive changes were observed. Deterioration in simple cognitive reactions times and block designs performance correlated with the progression of cerebellar symptoms. This study has demonstrated for the first time that patients with FRDA experience a significant decline over time in several cognitive domains. Specifically, after an eight-year period, FRDA patients worsened in processing speed, fluency, and visuoconstructive skills. This progression is unlikely to be due to greater motor or speech impairment.

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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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