Clinical and pathological study of SORD-related distal motor neuropathy caused by novel compound heterozygous mutations in a Chinese patient
- Resource Type
- Authors
- Bin, Chen; Zaiqiang, Zhang; Cuiping, Zhang; Songtao, Niu; Hua, Pan; Gehong, Dong; Xingao, Wang
- Source
- Clinical Neurology and Neurosurgery. 213:107118
- Subject
- Adult
China
L-Iditol 2-Dehydrogenase
Asian People
Sural Nerve
Mutation
Humans
Female
Surgery
Neurology (clinical)
General Medicine
Hereditary Sensory and Motor Neuropathy
- Language
- ISSN
- 0303-8467
Sorbitol dehydrogenase (SORD) has been identified as the causative gene of autosomal recessive distal hereditary motor neuropathies (dHMN). Here, we describe a 25-year-old woman who presented with progressive weakness of both lower limbs for the previous 10 years. Electrophysiological results suggested only a reduction in the compound muscle action potential (CMAP) amplitude of both the tibial and left deep peroneal nerves and neurogenic changes in needle EMG. A heterozygous c.757delG variant with a splicing c.786 + 1 GA variant in the SORD gene was identified. A sural nerve biopsy revealed slight axon separation from the myelin sheath and thin myelin sheaths in very few nerve fibres and thickening of the microvasculature basement membrane. Our study expands the pathological and mutation spectrum of the SORD-related neuropathy.