The parents of an eight-year-old schoolgirl from Livingston were devastated after being given the news that she has a debilitating progressive genetic condition inherited from them.

Methods The authors performed sequencing of known Coenzyme Q10 (CoQ10) deficiency genes in 22 patients with unexplained recessive or sporadic ataxia. Results CABC1/ADCK3 mutations were detected in ...

EngineAI’s SE01’s advanced end-to-end neural network system addressed the long-standing challenge of creating a natural, human-like gait, achieving unprecedented smoothness and energy ...

for the treatment of children and adults living with Friedreich ataxia (FA) to the U.S. Food and Drug Administration (FDA). "We are excited to have reached this important milestone in the ...

The patient initially manifested with dizziness, nystagmus, dysarthria, and ataxia. Initial testing revealed weakly positive anti-Yo antibodies, accompanied by positive serum tissue-based assay result ...

Introduction: Very rarely, adult NMDAR antibody-associated encephalitis (NMDAR-E) leads to persistent cerebellar atrophy and ataxia. Transient cerebellar ataxia is common in pediatric NMDAR-E.

1 McGill University Health Centre Research Institute and the Centre for Research in Neurosciences, 1650 Cedar Ave, Montreal, QC, Canada H3G 1A4 2 Montreal Neurological Hospital and Institute, and the ...