Article

Chorea-echinocytosis caused by two novel compound heterozygous mutations in the VPS13A gene: a case report and literature review

2023-10-03

Abstract excerpt

Chorea-acanthocytosis (ChAc) is a rare neurodegenerative disease caused by mutations in the VPS13A gene (vacuolar proteinsorting protein 13). Here we report a case of ChAc caused by two new compound heterozygous mutation in the VPS13A. A 36-year-old female presented with orolingual dystonia, dysarthria and mental symptom. A diagnosis of ChAc was established based on typical clinical symptoms, neuroimaging features...

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Literature Corpus work: 37ff5863-6f15-5bfe-b153-4c1c357a64c9
DOI: 10.21203/rs.3.rs-3348853/v1

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