Clinical manifestations and gene mutation in a case of Machado-Joseph disease★

This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccurate hand holding for 8 months, which progressively worsened. Physical examination on admission showed cerebellar ataxia and a history of hypertension. Cranial MRI demonstrated cere...

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Detalles Bibliográficos
Autores principales: Zhang, Bin, Li, Liru, Chen, Longxing, Huang, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Autonomic Nerve Damage and Neural Regeneration
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190867/
https://www.ncbi.nlm.nih.gov/pubmed/25317135
http://dx.doi.org/10.3969/j.issn.1673-5374.2012.35.013
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author Zhang, Bin
Li, Liru
Chen, Longxing
Huang, Jie
author_facet Zhang, Bin
Li, Liru
Chen, Longxing
Huang, Jie
author_sort Zhang, Bin
collection PubMed
description This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccurate hand holding for 8 months, which progressively worsened. Physical examination on admission showed cerebellar ataxia and a history of hypertension. Cranial MRI demonstrated cerebellar and brain stem atrophy. Gene analysis showed abnormal amplification of the CAG trinucleotide repeat in exon 10 of the ataxin-3 (ATXN3) gene, resulting in 70–81 CAG repeats in the patient, with a significant positive family history.
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spelling pubmed-41908672014-10-14 Clinical manifestations and gene mutation in a case of Machado-Joseph disease★ Zhang, Bin Li, Liru Chen, Longxing Huang, Jie Neural Regen Res Autonomic Nerve Damage and Neural Regeneration This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccurate hand holding for 8 months, which progressively worsened. Physical examination on admission showed cerebellar ataxia and a history of hypertension. Cranial MRI demonstrated cerebellar and brain stem atrophy. Gene analysis showed abnormal amplification of the CAG trinucleotide repeat in exon 10 of the ataxin-3 (ATXN3) gene, resulting in 70–81 CAG repeats in the patient, with a significant positive family history. Medknow Publications & Media Pvt Ltd 2012-12-15 /pmc/articles/PMC4190867/ /pubmed/25317135 http://dx.doi.org/10.3969/j.issn.1673-5374.2012.35.013 Text en Copyright: © Neural Regeneration Research http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Autonomic Nerve Damage and Neural Regeneration
Zhang, Bin
Li, Liru
Chen, Longxing
Huang, Jie
Clinical manifestations and gene mutation in a case of Machado-Joseph disease★
title Clinical manifestations and gene mutation in a case of Machado-Joseph disease★
title_full Clinical manifestations and gene mutation in a case of Machado-Joseph disease★
title_fullStr Clinical manifestations and gene mutation in a case of Machado-Joseph disease★
title_full_unstemmed Clinical manifestations and gene mutation in a case of Machado-Joseph disease★
title_short Clinical manifestations and gene mutation in a case of Machado-Joseph disease★
title_sort clinical manifestations and gene mutation in a case of machado-joseph disease★
topic Autonomic Nerve Damage and Neural Regeneration
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190867/
https://www.ncbi.nlm.nih.gov/pubmed/25317135
http://dx.doi.org/10.3969/j.issn.1673-5374.2012.35.013
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AT liliru clinicalmanifestationsandgenemutationinacaseofmachadojosephdisease
AT chenlongxing clinicalmanifestationsandgenemutationinacaseofmachadojosephdisease
AT huangjie clinicalmanifestationsandgenemutationinacaseofmachadojosephdisease

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