期刊
CLINICAL NEUROLOGY AND NEUROSURGERY
卷 213, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.clineuro.2021.107118
关键词
Sorbitol dehydrogenase gene; Microvasculature; Sural nerve; Distal hereditary motor neuropathy
This study describes a patient with clinical manifestations and related gene mutations, expanding the pathological and mutation spectrum of SORD-related neuropathy.
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 G>A 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.
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