[Analysis of clinical and novel gene mutations with X-linked Charcot-marie-tooth disease type 1].

Abstract

In 14 patients from 10 families with X-linked charcot-marie-tooth disease type 1 (CMTX1) who were admitted to the hospital between December 2018 and April 2024, 11 presented with weakness and atrophy of distal extremities or both feet without superficial sensory impairment, and 3 children presented with paraphylastic limb numbness and weakness, slurred speech, and intracranial lesions shown by head MRI. In 10 cases, the motor sensory nerve was demyelinated with axonal damage in the limbs, and 1 child patient had no obvious abnormality and the sensory nerve damage was more serious than the motor nerve. Statistical analysis of 10 patients' neurophysiology showed that CMTX1 had more severe sensory nerve damage than motor nerves, more severe motor and sensory nerve damage in the lower limbs than in the upper limbs, and more severe sural nerve damage than in the upper limbs. GJB1 gene variation was found in 10 families, among which c.176G > C (p.G59A), c.350T > C (p.L117P) and c.386G > A (p.G129E) were newly reported mutations. CMTX1 may present as peripheral neuropathy and/or episodic central nervous system dysfunction. There are several new mutations in CMTX1 in China.