Research group from the University of Helsinki, Finland, has identified a new disease gene for early-onset axonal neuropathy and mild intellectual disability through an international research network, ...

"Alterations in axonal membrane and channel function occur early in the disease course, prior to discernable large fibre involvement, and has the potential to be used as an early biomarker of ...

Thirty-three patients with liver cirrhosis were investigated clinically and electrophysiologically. Nerve-conduction abnormalities were present in 24 (73%) patients compared with 71% reported in a ...

New disease gene for axon degeneration identified through International Gene Matching Research group from the University of Helsinki has identified a new disease gene for early-onset axonal neuropathy ...

Autosomal recessive ulcero-mutilating neuropathy with spastic paraplegia is a very rare disease since only few cases were described up to date. We report in this study a consanguineous Moroccan family ...

A 23-year-old woman with juvenile-onset α-mannosidosis developed an axonal polyneuropathy more than a year following successful unrelated donor (URD) BMT complicated by chronic graft-versus-host ...

Small fiber sensory neuropathy is a neuromuscular disorder that affects millions of people. It can be caused by various conditions, such as diabetes or prediabetes. It can also occur on its own. Main ...

Sensory neuropathy occurs if the body’s sensory nerves become damaged. People with diabetes have an increased risk of neuropathy as high blood glucose levels over long periods of time can damage the ...

Gene therapy delivered for the first time via lumbar puncture showed promise of benefit in slowing progression of giant axonal neuropathy (GAN) in a phase I clinical trial. The slope of change in ...

A motor disorder at the admission was referred in 94 patients, with a variable degree. By classifying them according to the GBS disability score, 55% retained the ability to walk (grades 1, 2 and 3), ...

This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when they ...