The thickness of the layer of nerve cells forming the back of the eye, or retina, may be used as a biomarker of Friedreich’s ataxia (FA) in future clinical trials, a study suggests. The study, “Peripapillary retinal nerve fibre layer thickness in Friedreich’s ataxia: a biomarker for trials?”…
Edge Research, funded by the Muscular Dystrophy Association (MDA), carried out a survey called ONEVoice to evaluate key areas of concern and devise solutions among carers, family members and patients with different types of neuromuscular disorders. ONEVoice, which took place from Jan. 18 to Feb. 20, involved…
Large interruptions of GAA repeats in the frataxin (FXN) gene are very rare among patients with Friedreich’s ataxia (FA), a study has found. However, when these are present, it may be of importance to disease progression, researchers say. The study, “Large Interruptions of GAA Repeat Expansion Mutations in…
Depression can be severe and clinically relevant among patients with Friedreich’s ataxia, and its symptoms are most often expressed as a lack of motivation and negative feelings toward self, a study reports. The study, “Depressive symptoms in Friedreich ataxia,” were published in the International Journal of Clinical and Health…
Serious games (SG) — video games designed with a primary purpose other than pure entertainment — are a reliable assessment tool for motor function in patients with advanced Friedreich’s ataxia (FA). This functional evaluation can also be used during rehabilitation therapy with the patient seated in a wheelchair. The study, “Automated functional…
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