Autonomic nervous system involvement in a new CMT2B family

作者：Manganelli Fiore; Pisciotta Chiara; Provitera Vincenzo; Taioli Federica; Iodice Rosa; Topa Antonietta; Fabrizi Gian Maria; Nolano Maria; Santoro Lucio^*

来源：Journal of the Peripheral Nervous System, 2012, 17(3): 361-364.

DOI：10.1111/j.1529-8027.2012.00415.x

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

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.

• 出版日期2012-9