A pedigree of dominant intermediate Charcot-Marie-Tooth disease type G with NEFL gene mutation
LI Huan
YU Xiang-ming
LIU You-wei
WANG Xiao-ling
Abstract：The proband is a 44-year-old male who presented to the Department of Neurology at the 970th Hospital of the Joint Logistics Support Force on February 4, 2022, due to instability in walking for 42 years, which had worsened over the past year with difficulty in squatting and standing up. The patient was found to have deformity of the right hand joints and weakness in extension and grasping at the age of 1 (June 1981). He began to walk at the age of 2 (June 1982), but with instability and frequent falls. At the age of 8 (September 1988), he was noted to have poorer motor function compared to peers, with limb incoordination during running. There were no symptoms such as speech difficulties or swallowing problems, and no systematic treatment was received. One year ago (January 2021), he developed worsening instability in walking, difficulty in squatting and standing up, without low back pain or numbness in the lower limbs.
Keywords：Charcot-Marie-Tooth diseaseNeurofilament proteinsGenesMutationCase reports
Publication Date：2025-08-25
Online Publishing Date：2025-09-22(First online date of this platform, not the publication date of the document)
Pages：4( 748-751 )