Voltage‐gated calcium channels, particularly the CaV2.1 channels encoded by the CACNA1A gene, are central to cerebellar function and synaptic transmission. Dysfunction in these channels leads to a ...

Phase 3 trial results show levacetylleucine improves SARA scores in patients with the rare disorder ataxia-telangiectasia.

A University of Oklahoma researcher is the first to discover that the sequence of the genetic defect in the neuromuscular disease Friedreich's ataxia isn't always as uniform as previously thought, a ...

Friedreich's ataxia (FA) is a rare but devastating genetic disorder. Those with the condition are often diagnosed between 5 and 15 years of age and live only into their 30s or 40s. There is no widely ...

Scientists discovered that certain gene changes allow cells to function even when frataxin, the protein lost in Friedreich’s ataxia, is missing. Experiments in worms, human cells, and mice revealed ...

OKLAHOMA CITY – A University of Oklahoma researcher is the first to discover that the sequence of the genetic defect in the neuromuscular disease Friedreich’s ataxia isn’t always as uniform as ...

Please provide your email address to receive an email when new articles are posted on . Vatiquinone inhibits 15-Lipoxygenase, which regulates the pathways that Friedreich’s ataxia disrupts. PTC ...

Could an anomaly in the developing brain explain motor difficulties occurring decades later in people with rare movement disorders? These are the genetics being investigated by researchers at ...

Ataxia telangiectasia (AT) is a rare genetic condition that people inherit from their parents. AT affects the part of the brain that controls movement and coordination. Ataxia is when a person has ...