Original paper
Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants
Abstract
Most patients with homozygous or compound heterozygous pathogenic ACO2 variants present with muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of ACO2 variants presenting as complex hereditary spastic paraplegia (HSP) with broad clinical spectra. Here, we report the case of a 20-year-old Japanese woman with complex HSP caused by compound heterozygous ACO2 variants,...
Paper Details
Title
Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants
Published Date
Jan 26, 2021
Journal
Volume
8
Issue
1
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Notes
History