title: Autonomic nervous system involvement in a new CMT2B family.
abstract: 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.
authors.affiliation: Department of Neurological Sciences, University Federico II of Naples, Naples, Italy.
authors.forename: Fiore
authors.initials: F
authors.lastname: Manganelli
authors.forename: Chiara
authors.initials: C
authors.lastname: Pisciotta
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Provitera
authors.forename: Federica
authors.initials: F
authors.lastname: Taioli
authors.forename: Rosa
authors.initials: R
authors.lastname: Iodice
authors.forename: Antonietta
authors.initials: A
authors.lastname: Topa
authors.forename: Gian Maria
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: Maria
authors.initials: M
authors.lastname: Nolano
authors.forename: Lucio
authors.initials: L
authors.lastname: Santoro
mesh_terms: D000369:Aged, 80 and over; D001342:Autonomic Nervous System Diseases / Q000150:complications* / Q000175:diagnosis*; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000175:diagnosis*; D005260:Female; D006801:Humans; D000083083:Laminopathies; D008297:Male; D008875:Middle Aged