Unlocking a common cause of ataxia: A step toward effective treatment
Cerebellar rhythm loss due to climbing fiber regression is a shared pathophysiology of motor deficits across cerebellar ...
Live Science on MSN7d
POLG diseases: Rare genetic conditions that starve cells of energy and afflicted the late Prince of Luxembourg
POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.
News-Medical.Net on MSN16d
Study identifies key genetic markers for SCA6 diagnosis
The Department of Neurology at Niigata University and National Center of Neurology and Psychiatry NCNP has identified pathogenic thresholds for the CAG repeat units (RU) of the CACNA1A gene that ...
The Sun Times News5d
Chelsea Hosts Families for Friedreich’s Ataxia Foundation Fundraiser
The Families for Friedreich’s Ataxia Foundation is grateful for the incredible support from Chelsea and the surrounding ...
Study shows how neurofilaments act like Velcro to clog up brain functions
Northwestern Medicine scientists have uncovered new insights into how neurofilaments act like Velcro in neurodegenerative ...
Science X Network15d
Pathogenicity threshold of spinocerebellar ataxia type 6 causative gene CACNA1A identified
Science X is a network of high quality websites with most complete and comprehensive daily coverage of the full sweep of science, technology, and medicine news ...
Design Therapeutics Highlights Progress Across Lead GeneTAC® Programs and Reports Fourth Quarter and Full Year 2024 Financial Results
Initiated Phase 1 Single Ascending Dose Trial of DT-216P2 in Healthy Volunteers; Friedreich Ataxia (FA) Patient Dosing to Begin in mid-2025Dosing ...
Medindia3d
SKYCLARYS (omaveloxolone) Approval by Health Canada Ushers in a New Era for Friedreich's Ataxia Treatment in Canada
As the only approved treatment to address disease progression, SKYCLARYS addresses a long-standing gap in the care of Canadians living with Friedreich's ataxia Friedreich's ...