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

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

doi:10.1038/s41439-021-00136-y

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

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Article number	4
Journal	Human Genome Variation
Volume	8
Issue number	1
DOIs	https://doi.org/10.1038/s41439-021-00136-y
Publication status	Published - 2021 Dec

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

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Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants. / Tozawa, Takenori; Nishimura, Akira; Ueno, Tamaki; Shikata, Akane; Taura, Yoshihiro; Yoshida, Takeshi; Nakagawa, Naoko; Wada, Takahito; Kosugi, Shinji; Uehara, Tomoko; Takenouchi, Toshiki ; Kosaki, Kenjiro; Chiyonobu, Tomohiro.

In: Human Genome Variation, Vol. 8, No. 1, 4, 12.2021.

Research output: Contribution to journal › Article › peer-review

Tozawa, Takenori ; Nishimura, Akira ; Ueno, Tamaki ; Shikata, Akane ; Taura, Yoshihiro ; Yoshida, Takeshi ; Nakagawa, Naoko ; Wada, Takahito ; Kosugi, Shinji ; Uehara, Tomoko ; Takenouchi, Toshiki ; Kosaki, Kenjiro ; Chiyonobu, Tomohiro. / Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants. In: Human Genome Variation. 2021 ; Vol. 8, No. 1.

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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.",

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AU - Tozawa, Takenori

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AU - Ueno, Tamaki

AU - Shikata, Akane

AU - Taura, Yoshihiro

AU - Yoshida, Takeshi

AU - Nakagawa, Naoko

AU - Wada, Takahito

AU - Kosugi, Shinji

AU - Uehara, Tomoko

AU - Takenouchi, Toshiki

AU - Kosaki, Kenjiro

AU - Chiyonobu, Tomohiro

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AB - 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.

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

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