Loss-of-function mutations in the gene (CSTB) encoding human cystatin B, a widely expressed cysteine protease inhibitor, are responsible for a severe neurological disorder known as Unverricht-Lundborg ...

STEVENAGE, England--(BUSINESS WIRE)--Autifony Therapeutics Limited (“Autifony”), which is pioneering the development of novel pharmaceutical treatments for rare CNS disorders and other serious brain ...

Background. A 20-year-old woman presented to a specialist epilepsy center with a 3-year history of drug-resistant epileptic seizures, progressive myoclonus, ataxia, and cognitive decline.

Progressive myoclonus epilepsy syndromes comprise a heterogeneous group of inherited neurological disorders characterised by the combination of myoclonic jerks, generalised tonic–clonic seizures and ...

Myoclonus refers to brief, involuntary twitching of muscles and it is the most disabling and progressive drug-resistant symptom in patients with progressive myoclonus epilepsy type 1 (EPM1). It is ...

A new study shows that wearable sensor technology can be used to reliably assess the occurrence of myoclonic jerks in patients with epilepsy also in the home environment. A new study by the University ...

Myoclonus is a sudden, random muscle jerk. It can happen alone or stem from a medical condition. Possible causes include medication side effects, damage to the nervous system, and disorders that ...

If you have impaired muscle coordination or control, you might have a type of ataxia. This condition is rare, but it can make it difficult to maintain balance, speak, or move. “Ataxia” is the medical ...

Ataxia is a lack of muscle coordination that may affect a person’s speech, eye movements, and ability to swallow, walk, and pick up objects. It can happen due to certain health conditions, genetics, ...