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A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases
The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Inf...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Sociedade Brasileira de Genética
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7452730/ https://www.ncbi.nlm.nih.gov/pubmed/32870233 http://dx.doi.org/10.1590/1678-4685-GMB-2019-0325 |
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author | Sánchez-Corona, José Ramirez-Garcia, Sergio Alberto Castañeda-Cisneros, Gema Gutiérrez-Rubio, Susan Andrea Volpini, Víctor Sánchez-Garcia, Diana M. García-Ortiz, José Elías García-Cruz, Diana |
author_facet | Sánchez-Corona, José Ramirez-Garcia, Sergio Alberto Castañeda-Cisneros, Gema Gutiérrez-Rubio, Susan Andrea Volpini, Víctor Sánchez-Garcia, Diana M. García-Ortiz, José Elías García-Cruz, Diana |
author_sort | Sánchez-Corona, José |
collection | PubMed |
description | The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Infantile onset is a rare presentation that only has been reported in four instances in the literature. In the present work a boy aged 5 years 7 months was studied due to horizontal gaze-evoked nystagmus, without saccades, ataxic gait, dysarthria, dysphagia, dysmetria, generalized spasticity mainly pelvic, bilateral Babinsky. The mother aged 27 years-old presented progressive cerebellar ataxia, dysarthria, dysmetria, dysdiadochokinesis, limb ataxia and olivopontocerebellar atrophy. The molecular analysis was made by identifying the expansion repeats in tandem by long PCR to analyze the repeats in the ATXN2 gene. We found an extreme CAG expansion repeats of ~884 repeats in the child. We describe a Mexican child affected by SCA2 with an infantile onset, associated with a high number of CAG repeats previously no reported and anticipation phenomenon. |
format | Online Article Text |
id | pubmed-7452730 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Sociedade Brasileira de Genética |
record_format | MEDLINE/PubMed |
spelling | pubmed-74527302020-09-11 A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases Sánchez-Corona, José Ramirez-Garcia, Sergio Alberto Castañeda-Cisneros, Gema Gutiérrez-Rubio, Susan Andrea Volpini, Víctor Sánchez-Garcia, Diana M. García-Ortiz, José Elías García-Cruz, Diana Genet Mol Biol Human and Medical Genetics The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Infantile onset is a rare presentation that only has been reported in four instances in the literature. In the present work a boy aged 5 years 7 months was studied due to horizontal gaze-evoked nystagmus, without saccades, ataxic gait, dysarthria, dysphagia, dysmetria, generalized spasticity mainly pelvic, bilateral Babinsky. The mother aged 27 years-old presented progressive cerebellar ataxia, dysarthria, dysmetria, dysdiadochokinesis, limb ataxia and olivopontocerebellar atrophy. The molecular analysis was made by identifying the expansion repeats in tandem by long PCR to analyze the repeats in the ATXN2 gene. We found an extreme CAG expansion repeats of ~884 repeats in the child. We describe a Mexican child affected by SCA2 with an infantile onset, associated with a high number of CAG repeats previously no reported and anticipation phenomenon. Sociedade Brasileira de Genética 2020-08-21 /pmc/articles/PMC7452730/ /pubmed/32870233 http://dx.doi.org/10.1590/1678-4685-GMB-2019-0325 Text en Copyright © 2020, Sociedade Brasileira de Genética. https://creativecommons.org/licenses/by/4.0/ License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (type CC-BY), which permits unrestricted use, distribution and reproduction in any medium, provided the original article is properly cited. |
spellingShingle | Human and Medical Genetics Sánchez-Corona, José Ramirez-Garcia, Sergio Alberto Castañeda-Cisneros, Gema Gutiérrez-Rubio, Susan Andrea Volpini, Víctor Sánchez-Garcia, Diana M. García-Ortiz, José Elías García-Cruz, Diana A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases |
title | A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases |
title_full | A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases |
title_fullStr | A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases |
title_full_unstemmed | A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases |
title_short | A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases |
title_sort | clinical report of the massive cag repeat expansion in spinocerebellar ataxia type 2: severe onset in a mexican child and review previous cases |
topic | Human and Medical Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7452730/ https://www.ncbi.nlm.nih.gov/pubmed/32870233 http://dx.doi.org/10.1590/1678-4685-GMB-2019-0325 |
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