Italian study confirms phenotypic heterogeneity of hereditary P0 neuropathy

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Italian clinicians participating in the national registry of Charcot-Marie-Tooth (CMT) disease have compiled the clinical and biological data of patients in whom a pathological variant of the MPZ gene (encoding the P0 protein) has been identified:

  • the registry sample represented a total of 186 patients,
  • they all belonged to one of the five clusters of CMT with MPZ mutation already reported in Italy (two in northern Italy, one in Puglia, one in Sardinia and one in Sicily)
  • the study data confirm the existence of a variety of phenotypes, ranging from the classic demyelinating form with onset in childhood to late, more axonal forms,
  • patients belonging to three of these clusters had a much more severe course, despite a later onset.

The authors stress the importance of stratifying these patient subgroups for future therapeutic trials.

 

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy. Bertini A, Gentile L, Cavallaro T et al. J Neurol Neurosurg Psychiatry. 2024 Jun 5:jnnp-2024-333842.

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