Premium
A charcot‐marie‐tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia
Author(s) -
Caress James B.,
Lewis James A.,
Pinyan Clark W.,
Lawson Victoria H.
Publication year - 2019
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26478
Subject(s) - hemifacial spasm , trigeminal neuralgia , medicine , trigeminal nerve , peripheral myelin protein 22 , phenotype , mutation , dermatology , myelin , pathology , anatomy , surgery , genetics , facial nerve , gene , biology , central nervous system
: Charcot‐Marie‐Tooth (CMT) phenotypes can be distinguished by electrophysiology and genetic analysis but few can be identified by their clinical characteristics. Distinctive phenotypes are useful in identifying affected individuals and providing additional clues about the mechanism of the neuropathy. Cranial neuropathies are uncommon features of CMT, and few reports of familial hemifacial spasm (HFS) and trigeminal neuralgia (TN) have been published. Methods : Sixty‐three members of a large CMT 1B kindred were assessed for signs of peripheral neuropathy and cranial neuropathies then tested for the G163R mutation in the myelin protein zero ( MPZ ) gene. Results : Of 27 individuals with the G163R mutation in MPZ , 10 had HFS or TN. Co‐existing HFS and TN were found in 3 of these and 4 had bilateral HFS or TN. Conclusions : This kindred exhibits a distinct CMT phenotype characterized by the development of HFS or TN decades after clinical signs of hereditary neuropathy are manifest. Muscle Nerve , 2019