Hereditary motor sensory neuropathy type II with neurofilament accumulaion: New finding or new disorder?

P. Vogel, M. Gabriel, H. H. Goebel, P. J. Dyck

Research output: Contribution to journalArticle

38 Scopus citations

Abstract

Peroneal muscular atrophy is now known to be heterogeneous and to be due to various underlying genetic mechanisms. Exploring this heterogeneity further, we report on a German kinship with the clinical, genetic, and nerve conduction features of hereditary motor and sensory neuropathy type II (HMSN type II) but whose sural nerves on biopsy were found to show infrequent axonal swellings with neurofilament accumulations not previously described. The dominant inheritance and absence of kinky hair set this disorder apart from giant axonal neuropathy. There was no history of toxic exposure to industrial chemicals. We conclude that the disorder either is a new type of HMSN or is HMSN type II with previously unencountered neurofilament accumulations. Neurofilament accumulation indicates that the axon could be a site for primary derangement and may implicate an abnormality of slow axonal flow. In addition, some of the patients exhibited features suggestive of a cardiomyopathy.

Original languageEnglish (US)
Pages (from-to)455-461
Number of pages7
JournalAnnals of neurology
Volume17
Issue number5
DOIs
StatePublished - May 1985

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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