The severity of abnormal glucose regulation in people with Friedreich’s ataxia (FA) is linked to the extent of their genetic mutation, according to researchers at The Children’s Hospital of Philadelphia — a finding that might deepen understanding of disrupted glucose metabolism in FA patients. The genetic mutation underlying Friedreich’s ataxia is composed of repeats of…
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Metabolic analysis of platelets from patients with Friedreich’s ataxia (FA), using liquid chromatography–mass spectrometry (LC-MS), revealed metabolic alterations that may be the focus of future therapeutics, according to a study, “Stable isotopes and LC–MS for monitoring metabolic disturbances in Friedreich’s ataxia platelets,” published in the Bioanalysis journal. FA is a genetic disease caused…
A recent study led by several Australian institutions found that excessive muscle contraction, called spasticity, appears early in patients with Friedreich’s ataxia (FA). To optimize the function of people with FA, particular management of spasticity and reduced muscle length should be considered at an early stage of the disease. These findings,…
Low-dose deferiprone in combination with idebenone may improve both neurological and cardiological functions of patients with Friedreich’s ataxia. These are the findings of a study titled “Clinical Experience With Deferiprone Treatment for Friedreich Ataxia” published in the Journal of Child Neurology. Friedrich’s ataxia is a progressive…
Friedreich’s ataxia associated with DNA damage in microglia cells leads to an increase of PARP-1 protein, which, once inhibited, weakens microglia activation and disease behavior impairments, according to a study, “Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34,” published in the open access journal PLOS One.
In Friedreich’s ataxia, neurodegeneration related to dysfunctional iron metabolism has been described in the cerebellum – a brain region crucial for movement coordination. A new study, however, shows that disturbed iron metabolism with resulting tissue damage is far more widespread, and may serve as a biomarker of disease progression or…
A recent study describes a case of ataxia with isolated vitamin E deficiency (AVED) that was initially misdiagnosed as Friedreich’s ataxia, delaying proper treatment. The study was published in the journal Case Reports in Neurological Medicine. AVED is a rare genetic disease characterized by progressive cerebellar ataxia, dorsal column signs, and pyramidal deficits on examination. Clinically,…
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Cardiorespiratory Function of Friedreich’s Ataxia Patients Not Impacted by Epoetin-alfa Treatment
In the largest clinical trial to date, researchers observed that treatment of the alpha form of erythropoietin protein did not benefit Friedreich’s ataxia (FA) patients. The study, “Long-Term Effect of Epoetin Alfa on Clinical and Biochemical Markers in Friedreich Ataxia,” was published in the…
The direct and indirect annual costs of care for Friedreich’s ataxia (FA) can be as high as £11,000 to £19,000 per person, according to a study titled “Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany,” published in BioMed Central’s open access journal…
Scientists believe that delivery of functional frataxin mRNA via RNA transcript therapy (RTT) can become a potential therapy for Friedreich’s ataxia patients. The study, “Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich’s ataxia,” was published in the journal Scientific Reports. Friedreich’s…
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