A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases
Abstract 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 neurop...
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Sociedade Brasileira de Genética
2020-08-01
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| Series: | Genetics and Molecular Biology |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000500107&tlng=en |
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| author | José Sánchez-Corona Sergio Alberto Ramirez-Garcia Gema Castañeda-Cisneros Susan Andrea Gutiérrez-Rubio Víctor Volpini Diana M. Sánchez-Garcia José Elías García-Ortiz Diana García-Cruz |
| author_facet | José Sánchez-Corona Sergio Alberto Ramirez-Garcia Gema Castañeda-Cisneros Susan Andrea Gutiérrez-Rubio Víctor Volpini Diana M. Sánchez-Garcia José Elías García-Ortiz Diana García-Cruz |
| author_sort | José Sánchez-Corona |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-20T23:57:50Z |
| format | Article |
| id | doaj.art-7cd6f226a29645b0b2ed8a9e11f94316 |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-12-20T23:57:50Z |
| publishDate | 2020-08-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-7cd6f226a29645b0b2ed8a9e11f943162022-12-21T19:22:41ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852020-08-0143310.1590/1678-4685-gmb-2019-0325A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous casesJosé Sánchez-CoronaSergio Alberto Ramirez-Garciahttps://orcid.org/0000-0002-6343-9278Gema Castañeda-Cisneroshttps://orcid.org/0000-0001-9314-3411Susan Andrea Gutiérrez-Rubiohttps://orcid.org/0000-0003-2630-3926Víctor VolpiniDiana M. Sánchez-GarciaJosé Elías García-Ortizhttps://orcid.org/0000-0003-1504-1457Diana García-Cruzhttps://orcid.org/0000-0002-8652-5531Abstract 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000500107&tlng=enAtaxin-2 geneanticipation phenomenonautosomal dominantspinocerebellar ataxia type 2triplet expansion repeat |
| spellingShingle | José Sánchez-Corona Sergio Alberto Ramirez-Garcia Gema Castañeda-Cisneros Susan Andrea Gutiérrez-Rubio Víctor Volpini Diana M. Sánchez-Garcia José Elías García-Ortiz Diana García-Cruz A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases Genetics and Molecular Biology Ataxin-2 gene anticipation phenomenon autosomal dominant spinocerebellar ataxia type 2 triplet expansion repeat |
| 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 | Ataxin-2 gene anticipation phenomenon autosomal dominant spinocerebellar ataxia type 2 triplet expansion repeat |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000500107&tlng=en |
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