TY - JOUR
T1 - Autonomic nervous system involvement in a new CMT2B family
AU - Manganelli, Fiore
AU - Pisciotta, Chiara
AU - Provitera, Vincenzo
AU - Taioli, Federica
AU - Iodice, Rosa
AU - Topa, Antonietta
AU - Fabrizi, Gian Maria
AU - Nolano, Maria
AU - Santoro, Lucio
PY - 2012/9
Y1 - 2012/9
N2 - 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.
AB - 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.
KW - autonomic nervous system
KW - Charcot-Marie-Tooth type 2B
KW - RAB7
KW - skin biopsy
UR - http://www.scopus.com/inward/record.url?scp=84866358301&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84866358301&partnerID=8YFLogxK
U2 - 10.1111/j.1529-8027.2012.00415.x
DO - 10.1111/j.1529-8027.2012.00415.x
M3 - Article
C2 - 22971099
AN - SCOPUS:84866358301
VL - 17
SP - 361
EP - 364
JO - Journal of the Peripheral Nervous System
JF - Journal of the Peripheral Nervous System
SN - 1085-9489
IS - 3
ER -