Neurology Updates

A large study on 147 patients with antibody negative autoimmune encephalitis defines long term outcome and provides important clues on treatment…

Thermoregulatory abnormalities are known to occur in demyelinating disorders, yet they are poorly studied (Adamec et al 2018). While a few studies…

Arbab et al. (2023) showed for the first time the feasibility of genome editing as permanently restoring SMN protein levels in cellular and animal…

A GAA repeat expansion in FGF14 appears to be an important and frequent cause of autosomal dominant late-onset cerebellar ataxia, further expanding…

WGS can reliably assess the most common neurological disease-causing repeat expansions, further supporting its implementation in clinical practice

The world has changed for patients and parents of children suffering from spinal muscular atrophy (SMA) type 1. Without treatment these children…

SMA is a perfect example of rare neurological disease, and should be regarded as a prototype concerning the medical and social aspects of its…

Highet B, Dieriks BV, Murray HC, Faull RLM and Curtis MA (2020)

Huntingtin Aggregates in the Olfactory Bulb in Huntington’s Disease. Front. Aging…

Ataxin-1 regulates B cell function and the severity of autoimmune experimental encephalomyelitis.

www.pnas.org/cgi/doi/10.1073/pnas.2003798117 …

Rare neurological diseases are usually hereditary chronic disorders, affecting the central, peripheral nervous system and skeletal muscle, with…

Three patients with chronic disorders of consciousness showed behavioural and neuroimaging improvements after 30 days of treatment by apomorphine in…

Anectdotal evidence has pointed out clinical improvements narcolepsy-specific symptoms following treatment of painful conditions with opiates.…