Most people take the ability to walk for granted. But if you are afflicted with sensory peripheral neuropathy — one of the commonest nerve disorders, you will soon realise how difficult the simple act ...

"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 ...

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 ...

Background and Aims: Neuropathy in association with chronic liver disease, including cirrhosis, is recognized; however, there are differences in the incidence and type of neuropathy reported. The ...

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 ...

Sensory nerve action potential amplitudes decreased as patients aged in a cohort of spinal muscular atrophy (SMA) type 1 patients compared with a healthy, age-matched control group. Spinal muscular ...

Among disorders that cause sensory loss, the most distinctive are those that affect the sensory ganglia. These disorders are called sensory neuronopathies or sensory ganglionopathies. 1-5 The sensory ...

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 ...

Intratumoral Epidermal Growth Factor Receptor Antisense DNA Therapy in Head and Neck Cancer: First Human Application and Potential Antitumor Mechanisms Neurotoxicity is becoming increasingly ...

Giant axonal neuropathy is a rare, autosomal recessive, pediatric, polysymptomatic, neurodegenerative disorder caused by biallelic loss-of-function variants in GAN, the gene encoding gigaxonin. We ...

DALLAS, Sept. 19, 2023 (GLOBE NEWSWIRE) -- Taysha Gene Therapies, Inc. (Nasdaq: TSHA), a clinical-stage gene therapy company focused on developing and commercializing AAV-based gene therapies for the ...

Figure 1: Mutations in human YARS associated with DI-CMTC. Because the G41R and E196K mutations are located in the N-terminal part (termed 'mini TyrRS') that contains the aminoacylation domain 13, we ...