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MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia
Our case report describes a 34-year-old patient sent for magnetic resonance imaging (MRI) after four years of slow onset neurological symptoms. An MRI of her brain showed moderate to severe atrophy of the cerebellum and brainstem. She has a family history of spinocerebellar ataxia and has known STUB...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Ubiquity Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756905/ https://www.ncbi.nlm.nih.gov/pubmed/36569391 http://dx.doi.org/10.5334/jbsr.2902 |
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author | Thorvaldsson, Alexander Qureshi, Pir Abdul Ahad Aziz rao Bollineni, Vikram |
author_facet | Thorvaldsson, Alexander Qureshi, Pir Abdul Ahad Aziz rao Bollineni, Vikram |
author_sort | Thorvaldsson, Alexander |
collection | PubMed |
description | Our case report describes a 34-year-old patient sent for magnetic resonance imaging (MRI) after four years of slow onset neurological symptoms. An MRI of her brain showed moderate to severe atrophy of the cerebellum and brainstem. She has a family history of spinocerebellar ataxia and has known STUB1 mutation. Imaging features, genetic analysis, and clinical history are in keeping with the SCAR-16 type of STUB1-associated cerebellar ataxia. TEACHING POINT: This case report will help the radiologist to familiarize themselves with the CT and MRI features of STUB1-associated cerebellar ataxia and will provide suggestions to further differentiate between the SCAR-16 and SCA-48 types of STUB1-associated cerebellar ataxia. |
format | Online Article Text |
id | pubmed-9756905 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Ubiquity Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-97569052022-12-22 MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia Thorvaldsson, Alexander Qureshi, Pir Abdul Ahad Aziz rao Bollineni, Vikram J Belg Soc Radiol Case Report Our case report describes a 34-year-old patient sent for magnetic resonance imaging (MRI) after four years of slow onset neurological symptoms. An MRI of her brain showed moderate to severe atrophy of the cerebellum and brainstem. She has a family history of spinocerebellar ataxia and has known STUB1 mutation. Imaging features, genetic analysis, and clinical history are in keeping with the SCAR-16 type of STUB1-associated cerebellar ataxia. TEACHING POINT: This case report will help the radiologist to familiarize themselves with the CT and MRI features of STUB1-associated cerebellar ataxia and will provide suggestions to further differentiate between the SCAR-16 and SCA-48 types of STUB1-associated cerebellar ataxia. Ubiquity Press 2022-12-14 /pmc/articles/PMC9756905/ /pubmed/36569391 http://dx.doi.org/10.5334/jbsr.2902 Text en Copyright: © 2022 The Author(s) https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (CC-BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. See http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Case Report Thorvaldsson, Alexander Qureshi, Pir Abdul Ahad Aziz rao Bollineni, Vikram MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia |
title | MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia |
title_full | MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia |
title_fullStr | MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia |
title_full_unstemmed | MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia |
title_short | MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia |
title_sort | mri findings in a patient with known scar-16 type stub1 associated cerebellar ataxia |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756905/ https://www.ncbi.nlm.nih.gov/pubmed/36569391 http://dx.doi.org/10.5334/jbsr.2902 |
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