Each of the individual paraproteinemic disorders exhibits a distinct neuropathic phenotype, and the typical clinical features are described below. The prognosis is often not well-defined and unknown ...

A new Guillain-Barré syndrome mimic that appeared to be triggered by mild infection emerged in children with biallelic RCC1 variants, a case series showed. One of the first cases was seen in a ...

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, ...

Giant axonal neuropathy (GAN) is a rare, autosomal recessive neurodegenerative disorder, characterized by a spectrum of symptoms and a challenging prognosis. Now, a study published recently in the New ...

Researchers have developed an innovative, experimental gene transfer-based treatment for children with giant axonal neuropathy (GAN). This extremely rare genetic disorder causes children to gradually ...

This rare genetic disorder may affect fewer than 100 people worldwide. You may experience difficulty walking or numbness in your arms and legs at first, but it can develop into more serious symptoms.

Ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive motor peripheral ...

Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders of the PNS. Progressive degeneration, predominantly of sensory and autonomic ...

A physical dimension of a cell is seldom its Achilles' heel. Yet for the neurons that are affected in most kinds of peripheral neuropathy, it is the length of their axons that best accounts for their ...

A new, inexpensive urine test that measures two sugar alcohols, sorbitol and xylitol, is making it easier, faster, and far ...

"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 ...