Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation

M Donaghy, S M Sisodiya, R Kennett, B McDonald, Neva Elizabeth Haites, C Bell

Research output: Contribution to journalArticle

68 Citations (Scopus)


Objective-To report a novel hereditary motor and sensory neuropathy (HMSN) phenotype, with partial steroid responsiveness, caused by a novel dominant mutation in the myelin protein zero (MPZ) gene. Most MPZ mutations lead to the HMSN type I phenotype, with recent reports of Dejerine-Sottas, congenital hypomyelination, and HMSN II also ascribed to MPZ mutations, Differing phenotypes may reflect the effect of particular mutations on MPZ structure and adhesivity.
Methods-Clinical, neurophysiological, neuropathological, and molecular genetic analysis of a family presenting with an unusual hereditary neuropathy.
Results-Progressive disabling weakness, with positive sensory phenomena and areflexia, occurred in the proband with raised CSF protein and initial steroid responsiveness. Nerve biopsy in a less severely affected sibling disclosed a demyelinating process with disruption of compacted myelin. The younger generation were so far less severely affected, becoming symptomatic only after 30 years. All affected family members were heterozygous for a novel MPZ mutation (Ile99Thr), in a conserved residue.
Conclusions-This broadens the range of familial neuropathy associated with MPZ mutations to include steroid responsive neuropathy, initially diagnosed as chronic inflammatory demyelinating polyneuropathy.

Original languageEnglish
Pages (from-to)799-805
Number of pages7
JournalJournal of Neurology, Neurosurgery & Psychiatry
Issue number6
Publication statusPublished - Dec 2000


  • myelin protein P-o
  • hereditary motor and sensory neuropathy
  • steroid responsive polyneuropathy
  • Marie Tooth disease
  • inflammatory demylinating polyneuropathy
  • neuropathy type III
  • Dejerine Sottas
  • PO gene
  • sensory neuropathy
  • hereditary motor
  • congenital hypomylination
  • peripheral nerves
  • mice deficient


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