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

1 Citation (Scopus)

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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title = "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, revealing a new phenotype of episodic visual loss during febrile illness.",

author = "Takenori Tozawa and Akira Nishimura and Tamaki Ueno and Akane Shikata and Yoshihiro Taura and Takeshi Yoshida and Naoko Nakagawa and Takahito Wada and Shinji Kosugi and Tomoko Uehara and Toshiki Takenouchi and Kenjiro Kosaki and Tomohiro Chiyonobu",

note = "Funding Information: We thank the patient and her family members for their cooperation in this study. This work was supported by the Japan Agency for Medical Research and Development (grant number JP19ek0109301). Publisher Copyright: {\textcopyright} 2021, The Author(s).",

year = "2021",

month = dec,

doi = "10.1038/s41439-021-00136-y",

language = "English",

volume = "8",

journal = "Human Genome Variation",

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TY - JOUR

T1 - Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

AU - Tozawa, Takenori

AU - Nishimura, Akira

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

N1 - Funding Information: We thank the patient and her family members for their cooperation in this study. This work was supported by the Japan Agency for Medical Research and Development (grant number JP19ek0109301). Publisher Copyright: © 2021, The Author(s).

PY - 2021/12

Y1 - 2021/12

N2 - 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.

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

Abstract

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