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Spinocerebellar ataxia type 21 exists in the Chinese Han population
Recently, mutations in transmembrane protein 240 (TMEM240) were identified as the cause of spinocerebellar ataxia type 21 (SCA21) in several French families. Clinically, SCA21 is characterized as an early-onset, slowly progressive cerebellar syndrome typically associated with cognitive impairment. T...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728603/ https://www.ncbi.nlm.nih.gov/pubmed/26813285 http://dx.doi.org/10.1038/srep19897 |
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author | Zeng, Sheng Zeng, Junsheng He, Miao Zeng, Xianfeng Zhou, Yao Liu, Zhen Xia, Kun Pan, Qian Jiang, Hong Shen, Lu Yan, Xinxiang Tang, Beisha Wang, Junling |
author_facet | Zeng, Sheng Zeng, Junsheng He, Miao Zeng, Xianfeng Zhou, Yao Liu, Zhen Xia, Kun Pan, Qian Jiang, Hong Shen, Lu Yan, Xinxiang Tang, Beisha Wang, Junling |
author_sort | Zeng, Sheng |
collection | PubMed |
description | Recently, mutations in transmembrane protein 240 (TMEM240) were identified as the cause of spinocerebellar ataxia type 21 (SCA21) in several French families. Clinically, SCA21 is characterized as an early-onset, slowly progressive cerebellar syndrome typically associated with cognitive impairment. To date, molecular screening of SCA21 has not been reported among patients of other ethnic origins or in other areas. Here we used Sanger sequencing to detect mutations in exons of TMEM240 in 340 unrelated probands with spinocerebellar ataxia for whom commonly known causative mutations have been excluded (96 probands of autosomal dominant spinocerebellar ataxia families and 244 patients with sporadic spinocerebellar ataxia). As a result, a de novo missense mutation (c.509C > T/p.P170L) was identified in one sporadic SCA patient. The condition manifested as early-onset (30 years old), slowly progressive cerebellar ataxia accompanied by mild early evidenced mental retardation, mild frontal behavior disorders and intentional hand tremors. Although rare, a SCA21 case was identified and described in mainland China, thus broadening the ethnic distribution of SCA21 beyond French families. |
format | Online Article Text |
id | pubmed-4728603 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-47286032016-02-01 Spinocerebellar ataxia type 21 exists in the Chinese Han population Zeng, Sheng Zeng, Junsheng He, Miao Zeng, Xianfeng Zhou, Yao Liu, Zhen Xia, Kun Pan, Qian Jiang, Hong Shen, Lu Yan, Xinxiang Tang, Beisha Wang, Junling Sci Rep Article Recently, mutations in transmembrane protein 240 (TMEM240) were identified as the cause of spinocerebellar ataxia type 21 (SCA21) in several French families. Clinically, SCA21 is characterized as an early-onset, slowly progressive cerebellar syndrome typically associated with cognitive impairment. To date, molecular screening of SCA21 has not been reported among patients of other ethnic origins or in other areas. Here we used Sanger sequencing to detect mutations in exons of TMEM240 in 340 unrelated probands with spinocerebellar ataxia for whom commonly known causative mutations have been excluded (96 probands of autosomal dominant spinocerebellar ataxia families and 244 patients with sporadic spinocerebellar ataxia). As a result, a de novo missense mutation (c.509C > T/p.P170L) was identified in one sporadic SCA patient. The condition manifested as early-onset (30 years old), slowly progressive cerebellar ataxia accompanied by mild early evidenced mental retardation, mild frontal behavior disorders and intentional hand tremors. Although rare, a SCA21 case was identified and described in mainland China, thus broadening the ethnic distribution of SCA21 beyond French families. Nature Publishing Group 2016-01-27 /pmc/articles/PMC4728603/ /pubmed/26813285 http://dx.doi.org/10.1038/srep19897 Text en Copyright © 2016, Macmillan Publishers Limited http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
spellingShingle | Article Zeng, Sheng Zeng, Junsheng He, Miao Zeng, Xianfeng Zhou, Yao Liu, Zhen Xia, Kun Pan, Qian Jiang, Hong Shen, Lu Yan, Xinxiang Tang, Beisha Wang, Junling Spinocerebellar ataxia type 21 exists in the Chinese Han population |
title | Spinocerebellar ataxia type 21 exists in the Chinese Han population |
title_full | Spinocerebellar ataxia type 21 exists in the Chinese Han population |
title_fullStr | Spinocerebellar ataxia type 21 exists in the Chinese Han population |
title_full_unstemmed | Spinocerebellar ataxia type 21 exists in the Chinese Han population |
title_short | Spinocerebellar ataxia type 21 exists in the Chinese Han population |
title_sort | spinocerebellar ataxia type 21 exists in the chinese han population |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728603/ https://www.ncbi.nlm.nih.gov/pubmed/26813285 http://dx.doi.org/10.1038/srep19897 |
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