RESUMEN
Objective To analyze features of clinical manifestation, electrophysiology, imageology and molecular ge?netics of familial carpal tunnel syndrome (FCTS), especially research progress in genetics. Methods Clinical data, labo?ratory and electrophysiologyical results as well as medical images were collected from the propositus. In addition, genetic analysis around peripheral neuropathy was performed on the proband, son of the proband and the affected relatives in the family. Result Patients showed a typical bilateral CTS with early onset. The mode of inheritance in this family was auto?somal dominant.. Gene sequencing revealed point mutations in INF2, KIF1B, TRPV4 and SCN9A. Besides, the possibili?ty of having hereditary neuropathy with liability to pressure palsy(HNPP)or familial amyloidosis (FAP) was excluded by the molecular genetic studies. Conclusion Primary FCTS exists as a separate autonomic entity, which may be caused by other unknown genes and therefore warrants further exploration.