No abstract

Congenital hypomyelination (CH) is a hereditary demyelinating peripheral neuropathy characterized by early infancy onset, distal muscle weakness, hypotonia, areflexia, and severe slowing of nerve conduction velocities. In the present report, the clinical, morphological, and immunohistochemical features of a CH case and the identification of a mutation in the gene (MPZ) for protein zero (P0) associated with this phenotype are described. This “de novo” mutation in a patient presenting with clinical features quite distinct from those of the more frequent Charcot‐Marie‐Tooth type 1B disease (CMT1B) or Dejerine‐Sottas syndrome (DSS) confirms that CH is allelic with other disorders characterized by a less severe phenotype and a different clinical and neuropathological profile. Ann Neurol 1999;45:676–678

Mutations in small heat-shock protein 27 and small heat-shock protein 22 genes were found in association with Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy. We searched for mutations in small heat-shock protein 27 gene in an Italian family with peripheral neuropathy and intrafamilial phenotypic variability. A novel heterozygous frame-shift mutation c.476_477delCT was found while point mutations in most genes associated with hereditary neuropathies were ruled out. In the proband, who showed a severe early onset peripheral neuropathy, an independent pathogenetic effect on the peripheral nervous system secondary to the tetanus toxoid injection may be supposed. This is the first truncating nonsense mutation in the small heat-shock protein 27 gene identified so far and the clinical, neurophysiologic, and neuropathological findings are discussed.

No abstract

The world is facing up the most considerable vaccination effort in history to end the Coronavirus disease 2019 (COVID-19) pandemic. Several monoclonal antibodies (mAbs) direct against the Receptor binding domain of the S protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) received an Emergency Use Authorization for outpatient management of mild to moderate manifestation from COVID-19. MAbs could prevent the transmission SARS-CoV-2 infection and protect individuals from progression to severe disease. Under the pressure of different treatment strategies, SARS-CoV-2 has been demonstrated to select for different sets of mutations named “variants” that could impair the effectiveness of mAbs by modifying target epitopes. We provide an overview of both completed and unpublished, or ongoing clinical trials of mAbs used and review state of art in order to describe clinical options, possible indications, and the place in therapy for these agents in the treatment of COVID-19 with a particular focus on anti-spike agents. Then, we reassume the current evidence on mutations of the SARS-CoV-2 that might confer resistance to neutralization by multiple mAbs.