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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...

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Autores principales: Thorvaldsson, Alexander, Qureshi, Pir Abdul Ahad Aziz, rao Bollineni, Vikram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2022
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.
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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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