We describe an unusual case of a woman in her 30s who had recently undergone Roux-en-Y gastric bypass and presented to the emergency department with a 6-week history of intractable nausea and vomiting ...
Biomarkers are generally used as diagnostic and prognostic tools in clinical practice, but are not yet available for neuropathies. Studies now suggest that neural protein levels in serum and ...
In a recent study of 33 families with the inherited disorder axonal neuropathy with neuromyotonia, researchers identified eight loss-of-function mutations in the HINT1 gene, which encodes histidine ...
NSAID Diflunisal Slows Neurodegenerative Progression Early axonal dysfunction may be detected prior to the development of clinical symptoms of diabetic neuropathy. (HealthDay News) – Early axonal ...
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 ...
GeneDx’s Hereditary Neuropathy Panel will be available free of charge to individuals at risk for or suspected of having GAN Taysha will collaborate with Hereditary Neuropathy Foundation and ...
Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The condition is characterized by abnormally large and dysfunctional ...
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 ...
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in ...
As the disorder progresses, the brain and spinal cord (central nervous system) may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures. We ...
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