News

Serum uric acid (UA) levels are increased in Friedreich’s ataxia patients and may be a disease biomarker as well as a new therapeutic target, Italian researchers suggests. Their study, “Serum uric acid in Friedreich Ataxia,” appeared in the journal Clinical Biochemistry. Friedreich’s ataxia (FA) is a rare…

Researchers are developing a new analytical method, using patients’ platelets, that enables rigorous quantification of frataxin, the protein lacking in patients with Friedreich’s ataxia (FA). Findings of the study ”Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich’s Ataxia,” were…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…

Friedreich’s ataxia patients have a specific personality and neuropsychological profile that is characterized by very mild cognitive impairment, a new study shows. The study, “Personality and Neuropsychological Profiles in Friedreich Ataxia,” was published in the journal The Cerebellum. People with Friedreich’s ataxia (FA) have lesions found primarily…

Researchers found a 50-year-old hypertension therapy can enhance the amount of frataxin protein in cells from patients with Friedreich’s ataxia and mouse models of the disease. The finding was reported in the study, “Effect of Diazoxide on Friedreich Ataxia Models,” published in the journal Human…

Patients with Friedreich’s ataxia have impaired emotion recognition that may be secondary to neuropsychological impairment, according to a study published in the journal The Cerebellum. Expressing and reading emotions are essential social skills necessary for developing relationships, as well as for showing your own feelings. To a great…

The Friedreich’s Ataxia Research Alliance (FARA) and the University of California Los Angeles (UCLA) have joined forces to sponsor a Friedreich’s ataxia (FA) patient symposium in Torrance, California, on Feb. 23. The symposium will be an educational event for people living with FA, including patients and families.

The production and function of mitochondria — cellular power plants that convert nutrients to energy — is impaired in the cerebellum of the brain in early stages of a Friedreich’s ataxia mouse model, researchers at Children’s Hospital of Philadelphia report. The findings support the idea that the cerebellar disease in…

In patients with Friedreich’s ataxia, the severity of the mutation in the frataxin gene may become worse over time, according to a study published in the journal PLOS ONE. This insight has an impact on the understanding of the timing of symptom onset, and is crucial for the…

UCLA scientists have found that many early symptoms of Friedreich’s ataxia (FA) can be reversed, according to research they conducted in a new mouse model of the disease. Their study, titled “Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia,” was published in the journal…