Researchers at the University of Miami Miller School of Medicine, McGill University and other institutions have found that a well-concealed genetic variation in the gene FGF14, called a DNA tandem repeat expansion, causes a common form of late-onset cerebellar ataxia, a brain disorder that interferes with coordinated movement. Tandem repeat expansions are only found in 50 conditions, including Friedreich’s ataxia and Huntington’s disease, but researchers believe they could account for many other conditions.
American Neurological Association Publishes Research Abstracts for ANA2022, Oct. 22–25 in Chicago
Abstracts of breaking research in neurology and neuroscience, to be presented at the 2022 American Neurological Association Annual Meeting Oct. 22-25, are now available in Annals of Neurology and on the ANA2022 website.
Aerobic Exercise May Help More than Balance Training to Hold Off Symptoms of Cerebellar Ataxia
Currently, no medications exist to combat spinocerebellar ataxias, debilitating neurodegenerative diseases that cause loss of balance and coordination. Physicians recommend balance training to improve symptoms, but a new study suggests that rigorous aerobic exercise may provide greater benefit for adults…
Positive Data Reported in a Multinational Clinical Trial Investigating New Treatment of Niemann-Pick disease Type C
A multinational clinical trial of for the treatment of Niemann-Pick disease Type C (NPC) demonstrated a statistically significant and clinically meaningful improvement in symptoms, functioning, and quality of life in both primary and topline secondary endpoints for both pediatric and adult patients with NPC.