axonal disease (CMT2): NCV > 38 m/s and intermediate disease: NCV = 25 – 45 m/s (10, 11). Charcot-Marie-Tooth disease is closely related to several less common peripheral neuropathies: distal ...

Hereditary and inflammatory neuropathies represent disorders of primarily different ... achalasia and weight loss who received a diagnosis of CIDP on clinical grounds and in view of mild ...

They are important to differentiate from hereditary and degenerative causes as they may respond to immunotherapy. The acute immune-mediated neuropathies are collectively referred to as Guillain-Barré ...

The levels of GFAP on the cerebrospinal fluid of patients with polyneuropathy were significantly lower in the case of purely demyelinating neuropathy compared to axonal or mixed neuropathy. Glial ...

Introduction: Disease susceptibility of chronic axonal polyneuropathy is not fully explained by clinical risk ... were included. Individuals known with hereditary and inflammatory neuropathies were ...

can give rise to persistent neuropathy. There is also evidence that significant axonal loss can limit the therapeutic potential of any new drug. “Sensitive biomarkers of early axonal dysfunction could ...

2. Adverse events related to gene therapy included scoliosis, urinary tract infections, and upper respiratory tract infections. Evidence Rating Level: 2 (Good) Study Rundown: Giant axonal neuropathy ...

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 ...

MONDAY, March 25, 2024 (HealthDay News) -- Intrathecal gene transfer with scAAV9/JeT-GAN may result in some benefit for children with giant axonal neuropathy, according to a study published in the ...

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.

Hereditary axonal peripheral neuropathies comprise a genetically heterogeneous group of disorders that are clinically subsumed under the name of Charcot–Marie–Tooth (CMT) disease type 2 (CMT2).