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 ...

"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 ...

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.

Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC, Online Mendelian Inheritance in Man #218000), also known as ACC associated with peripheral neuropathy ...

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 ...

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 ...

Polyneuropathy (PNP) remains a common comorbidity among patients with chronic obstructive pulmonary disease (COPD), and better screening strategies are needed to identify the condition and improve ...

Hannah’s Hope is a charity that was formed in 2008 after then-Plattsburgh residents Lori and Matt Sames’ daughter was diagnosed with a rare progressive nerve disease. Known informally as GAN, the ...

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 ...

Investigators at the National Institute of Biological Sciences in Beijing and China Agricultural University have identified mixed lineage kinase domain-like protein (MLKL) as an important player in ...