Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.
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ABSTRACT:
SUBMITTER: Tozawa T
PROVIDER: S-EPMC7838304 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
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Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.
Tozawa Takenori T Nishimura Akira A Ueno Tamaki T Shikata Akane A Taura Yoshihiro Y Yoshida Takeshi T Nakagawa Naoko N Wada Takahito T Kosugi Shinji S Uehara Tomoko T Takenouchi Toshiki T Kosaki Kenjiro K Chiyonobu Tomohiro T
Human genome variation 20210126 1
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 d ...[more]
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