Muscle & nerve
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Case Reports
Serial cerebrospinal fluid neurofilament heavy chain levels in severe Guillain-Barré syndrome.
Proximal axonotmesis results in the release of neurofilament (Nf) proteins into the cerebrospinal fluid (CSF) in patients with Guillain-Barré syndrome (GBS). High CSF levels of the phosphorylated form of Nf-heavy chain (NfH(SMI35) ) at GBS onset have been reported to be a poor prognostic marker, but routine measurement of CSF NfH(SMI35) levels has not been done and the longitudinal profile of CSF NfH(SMI35) levels in GBS is not known. ⋯ These data further suggest that CSF NfH(SMI35) could be a prognostic biomarker which might indicate the development of retrograde axonal degeneration or additional proximal axonal damage during the course of GBS.
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Letter Case Reports
Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation.