Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

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 paraplegi...

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Bibliographic Details
Main Authors: Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Akane Shikata, Yoshihiro Taura, Takeshi Yoshida, Naoko Nakagawa, Takahito Wada, Shinji Kosugi, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Tomohiro Chiyonobu
Format: Article
Language:English
Published: Nature Publishing Group 2021-01-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-021-00136-y
Description
Summary: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, revealing a new phenotype of episodic visual loss during febrile illness.
ISSN:2054-345X

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