Autonomic nervous system involvement in a new CMT2B family

Fiore Manganelli, Chiara Pisciotta, Vincenzo Provitera, Federica Taioli, Rosa Iodice, Antonietta Topa, Gian Maria Fabrizi, Maria Nolano, Lucio Santoro

Research output: Contribution to journalArticlepeer-review


We describe the first Italian family affected by CMT2B carrying a Val162Met substitution in the RAB7 gene. The clinical and electrophysiological features of our family are similar to those of previously reported families with RAB7 mutations, also for the higher occurrence of ulcers in males. However, in this family we evaluated the autonomic nervous system, never investigated in CMT2B, by means of skin biopsy and sudomotor and cardiovascular tests. Our findings provide both pathological and functional evidence of autonomic nervous system involvement in CMT2B and expand the phenotypic characterization of CMT2B disease.

Original languageEnglish
Pages (from-to)361-364
Number of pages4
JournalJournal of the Peripheral Nervous System
Issue number3
Publication statusPublished - Sep 2012


  • autonomic nervous system
  • Charcot-Marie-Tooth type 2B
  • RAB7
  • skin biopsy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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