Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.

ABSTRACT:

Background

Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of diseases characterized by exclusive degeneration of peripheral motor nerves, while only 20.0-47.8% of dHMN patients are genetically identified. Recently, GGC expansion in the 5'UTR of NOTCH2NLC has been associated with dHMN. Accordingly, short tandem repeat (STR) should be further explored in genetically unsolved patients with dHMN.

Methods

A total of 128 patients from 90 unrelated families were clinically diagnosed as dHMN, and underwent a comprehensively genetic screening. Skin biopsies were conducted with routine protocols.

Results

Most patients showed chronic distal weakness of lower limbs (121/128), while 20 patients initially had asymmetrical involvements, 14 had subclinical sensory

SUBMITTER: Wu C 

PROVIDER: S-EPMC9082376 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature