Homozygous spinocerebellar ataxia type 3 in China: a case report

Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a heterozygous CAG repeat expansion in the ataxin 3 gene (ATXN3). However, patients with homozygous SCA3 carrying expanded CAG repeats in both alleles of ATXN3 are extremely rare. Herein, we present a case of a 50-year-old...

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Autores principales: Chen, Yuchao, Li, Dan, Wei, Minger, Zhou, Menglu, Zhang, Linan, Yu, Jiaoyang, Qiu, Mengqiu, Jin, Yi, Lu, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236800/
https://www.ncbi.nlm.nih.gov/pubmed/34167352
http://dx.doi.org/10.1177/03000605211021370
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author Chen, Yuchao
Li, Dan
Wei, Minger
Zhou, Menglu
Zhang, Linan
Yu, Jiaoyang
Qiu, Mengqiu
Jin, Yi
Lu, Xiaodong
author_facet Chen, Yuchao
Li, Dan
Wei, Minger
Zhou, Menglu
Zhang, Linan
Yu, Jiaoyang
Qiu, Mengqiu
Jin, Yi
Lu, Xiaodong
author_sort Chen, Yuchao
collection PubMed
description Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a heterozygous CAG repeat expansion in the ataxin 3 gene (ATXN3). However, patients with homozygous SCA3 carrying expanded CAG repeats in both alleles of ATXN3 are extremely rare. Herein, we present a case of a 50-year-old female who had homozygous SCA3 with expansion of 62/62 repeats. Segregation analysis of the patient’s family showed both a contraction pattern of CAG repeat length and stable transmission. The present case demonstrated an earlier onset and more severe clinical phenotype than that seen in heterozygous individuals, suggesting that the gene dosage enhances disease severity.
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spelling pubmed-82368002021-07-08 Homozygous spinocerebellar ataxia type 3 in China: a case report Chen, Yuchao Li, Dan Wei, Minger Zhou, Menglu Zhang, Linan Yu, Jiaoyang Qiu, Mengqiu Jin, Yi Lu, Xiaodong J Int Med Res Case Reports Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a heterozygous CAG repeat expansion in the ataxin 3 gene (ATXN3). However, patients with homozygous SCA3 carrying expanded CAG repeats in both alleles of ATXN3 are extremely rare. Herein, we present a case of a 50-year-old female who had homozygous SCA3 with expansion of 62/62 repeats. Segregation analysis of the patient’s family showed both a contraction pattern of CAG repeat length and stable transmission. The present case demonstrated an earlier onset and more severe clinical phenotype than that seen in heterozygous individuals, suggesting that the gene dosage enhances disease severity. SAGE Publications 2021-06-24 /pmc/articles/PMC8236800/ /pubmed/34167352 http://dx.doi.org/10.1177/03000605211021370 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by-nc/4.0/Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Reports
Chen, Yuchao
Li, Dan
Wei, Minger
Zhou, Menglu
Zhang, Linan
Yu, Jiaoyang
Qiu, Mengqiu
Jin, Yi
Lu, Xiaodong
Homozygous spinocerebellar ataxia type 3 in China: a case report
title Homozygous spinocerebellar ataxia type 3 in China: a case report
title_full Homozygous spinocerebellar ataxia type 3 in China: a case report
title_fullStr Homozygous spinocerebellar ataxia type 3 in China: a case report
title_full_unstemmed Homozygous spinocerebellar ataxia type 3 in China: a case report
title_short Homozygous spinocerebellar ataxia type 3 in China: a case report
title_sort homozygous spinocerebellar ataxia type 3 in china: a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236800/
https://www.ncbi.nlm.nih.gov/pubmed/34167352
http://dx.doi.org/10.1177/03000605211021370
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