Clinical and pathological study of SORD-related distal motor neuropathy caused by novel compound heterozygous mutations in a Chinese patient.
Clin Neurol Neurosurg
; 213: 107118, 2022 02.
Article
em En
| MEDLINE
| ID: mdl-34995833
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neuropatia Hereditária Motora e Sensorial
/
L-Iditol 2-Desidrogenase
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Female
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Clin Neurol Neurosurg
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China