A charcot‐marie‐tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia

ABSTRACT Introduction: 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 mecha...

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Bibliographic Details
Published in:Muscle & nerve 2019-07, Vol.60 (1), p.62-66
Main Authors: Caress, James B., Lewis, James A., Pinyan, Clark W., Lawson, Victoria H.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Disease - complications
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - physiopathology
cranial neuropathy
Electrophysiology
familial
Family
Female
Genetic analysis
hemifacial spasm
Hemifacial Spasm - complications
Hemifacial Spasm - genetics
Hemifacial Spasm - physiopathology
hereditary neuropathy
Humans
Male
Middle Aged
Muscles
Mutation
Myelin
Myelin P0 protein
Myelin P0 Protein - genetics
Neuralgia
Pedigree
Peripheral neuropathy
Phenotype
Phenotypes
Skull
Trigeminal nerve
trigeminal neuralgia
Trigeminal Neuralgia - complications
Trigeminal Neuralgia - genetics
Trigeminal Neuralgia - physiopathology
Young Adult
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Summary:ABSTRACT Introduction: 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
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.26478