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

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) w...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838304/
https://www.ncbi.nlm.nih.gov/pubmed/33500398
http://dx.doi.org/10.1038/s41439-021-00136-y
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author 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
author_facet 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
author_sort Tozawa, Takenori
collection PubMed
description 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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spelling pubmed-78383042021-01-29 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 Hum Genome Var Data Report 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. Nature Publishing Group UK 2021-01-26 /pmc/articles/PMC7838304/ /pubmed/33500398 http://dx.doi.org/10.1038/s41439-021-00136-y Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
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
title Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants
title_full Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants
title_fullStr Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants
title_full_unstemmed Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants
title_short Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants
title_sort complex hereditary spastic paraplegia associated with episodic visual loss caused by aco2 variants
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838304/
https://www.ncbi.nlm.nih.gov/pubmed/33500398
http://dx.doi.org/10.1038/s41439-021-00136-y
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