I wrote this brief article on the way the SORD gene works (or fails to work) for the Hereditary Neuropathy Foundation. SORD mutations cause "the most common autosomal recessive form of CMT2 (CMT2A1), autosomal recessive intermediate CMT (CMTRIA), and the overlapping category of distal hereditary motor neuropathy (dHMN)."
I've been increasingly irritated lately by US-based CMT-related non-profit organizations that seem to compete with each other for donations — supposedly they drive research for "treatments and cures." How well they actually do this relative to the padding of their own budgets is a good question I might take up down the line, but you would think they might at least put some effort into writing plain-English summaries of technical material (medical and scientific research) in ways that educate and inform regular people. But no.
A recent study published in the Journal of Clinical Investigation looked at two unrelated families with CMT2 and identified "autosomal dominant mutations of the canonical Notch ligand Jagged1 (or JAG1)" in them — a likely cause for their CMT that was also backed up by experiments in mice. The CMT News site covers this in… Continue reading Genetic Cause of CMT2 Discovered?
Here's an informative article from the Hereditary Neuropathy Foundation (HNF) about current best practices in genetic diagnosis of CMT. A lot of examples are given of people with less common subtypes who waited a long time to get properly diagnosed — sometimes after many years of wrong diagnoses or none at all. Today the best… Continue reading New genetic diagnostics for CMT