Importance Familial amyloid polyneuropathy, a lethal genetic disease caused by
aggregation of variant transthyretin, induces progressive peripheral nerve deficits and …

Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive,
or vestibular impairment; when in combination, it is also termed cerebellar ataxia …

We designed a phase II, open-label study to evaluate the efficacy, tolerability, safety, and
pharmacokinetics of orally doxycycline (100 mg BID) and tauroursodeoxycholic acid …

Chronic inflammatory demyelination polyneuropathy is a heterogeneous and treatable
immune-mediated disorder that lacks biomarkers to support diagnosis. Recent evidence …

Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability.
We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor …

Acute disseminated encephalomyelitis (ADEM) is traditionally regarded as a monophasic
demyelinating disorder of the central nervous system occurring in children after infection or …

Objective To assess the prevalence and isotypes of anti-nodal/paranodal antibodies to
nodal/paranodal proteins in a large chronic inflammatory demyelinating …

Here we report biallelic mutations in the sorbitol dehydrogenase gene (SORD) as the most
frequent recessive form of hereditary neuropathy. We identified 45 individuals from 38 …

Chronic cough is common, and in many cases unexplained or refractory to otherwise
effective treatment of associated medical conditions. Cough hypersensitivity has developed …

Objective To delineate the full phenotypic spectrum, discriminative features, piloting
longitudinal progression data, and sample size calculations of replication factor complex …