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 ...
An investigational gene therapy for a rare neurodegenerative disease that begins in early childhood, known as giant axonal neuropathy (GAN), was well tolerated and showed signs of therapeutic benefit ...
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 ...
Expanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin
Twelve hundred sixty one pediatric EDX studies were performed from 2013 to 2019. One hundred fifty seven studies (12%) were classified as sensory motor polyneuropathy and 24 studies (2%) had pure ...
"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 ...
The HIV-associated sensory neuropathies, which include distal symmetric polyneuropathy and antiretroviral toxic neuropathy, affect as many as one-third of patients with AIDS. The resulting pain can ...
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