Duplication of the PMP22 gene, the underlying cause of Charcot-Marie-Tooth disease type 1A (CMT1A), disrupts the development of Schwann cells essential to the myelin sheath that protects nerve cells, a study in mouse models and cells derived from patients reports. Specifically, the gene’s duplication dysregulates fat-like lipid metabolism, storage,…
Blocking the immune complement protein C6 sped up the recovery of nerve damage and reduced inflammation in a mouse model of Charcot-Marie-Tooth disease type 1A (CMT1A), but it had no impact on the progressive loss of motor function, a study reports. These data suggest that C6 and related proteins,…
Inherited variants in the PSAT1 gene caused Charcot-Marie-Tooth (CMT) disease in two adolescents, as detailed in a case study and reportedly for a first time. These cases are unusual, given that PSAT1 variants are known to cause severe abnormalities in the central nervous system (CNS), or the brain and…
A rare mutation in the SOD1 gene helped doctors to diagnose a woman with Charcot-Marie-Tooth (CMT) disease, a study reports. Although SOD1 mutations are commonly associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS), clinical assessments confirmed a CMT diagnosis. Researchers hoped this report would raise awareness…
A rare form of late-onset Charcot-Marie-Tooth disease type 2 (CMT2), caused by TFG gene mutations, is marked by the degeneration of nerve cell projections that include axons, a study suggested. The study also characterized the impact of a specific TFG mutation in a family, which indicated progressive lower-limb muscle…
Neuropathic pain, related to damage or impairment in nerve receptors that detect pain and heat, is most common in CMT1A patients but can be found in people with different types of Charcot–Marie Tooth (CMT) disease, a study found. Abnormal electrical signals along nerve fibers in response to heat generated…
A boy who experienced oculomotor nerve palsy, a rare condition affecting a nerve that controls eye movements, was later diagnosed with Charcot-Marie-Tooth disease type 1 (CMT1), a case study reports. Although the two conditions may have been coincidental, researchers noted the underlying nerve damage due to CMT may have…
New genetic analysis tools identified previously unknown genetic mutations in people diagnosed with various types and subtypes of Charcot-Marie-Tooth (CMT) disease, a study reveals. The new techniques used to discern different genes and rare variants may enable researchers to improve detection rates of this neuropathic disorder. The study, “…
Genetic analysis conducted by researchers in China has advanced the understanding of Charcot-Marie-Tooth (CMT) disease and related disorders, a study suggests. The analysis revealed a relatively higher proportion of those with subtype CMT2 and a lower occurrence of PMP22 gene duplication, a common genetic defect linked to the condition,…
Mutations in the GARS protein — found in people with Charcot-Marie-Tooth disease type 2D (CMT2D) — enhanced the activity of the enzyme SIRT2, and led to motor deficits and other alterations in fruit flies, a study has found. In turn, blocking…
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