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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Ubiquity Press
2022-12-01
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| Series: | Journal of the Belgian Society of Radiology |
| Subjects: | |
| Online Access: | https://www.jbsr.be/articles/2902 |
| _version_ | 1797960137606955008 |
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| author | Alexander Thorvaldsson Pir Abdul Ahad Aziz Qureshi Vikram rao Bollineni |
| author_facet | Alexander Thorvaldsson Pir Abdul Ahad Aziz Qureshi Vikram rao Bollineni |
| author_sort | Alexander Thorvaldsson |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-11T00:40:38Z |
| format | Article |
| id | doaj.art-ad0bf84a09114ce1801345b14af90a4e |
| institution | Directory Open Access Journal |
| issn | 2514-8281 |
| language | English |
| last_indexed | 2024-04-11T00:40:38Z |
| publishDate | 2022-12-01 |
| publisher | Ubiquity Press |
| record_format | Article |
| series | Journal of the Belgian Society of Radiology |
| spelling | doaj.art-ad0bf84a09114ce1801345b14af90a4e2023-01-06T06:31:55ZengUbiquity PressJournal of the Belgian Society of Radiology2514-82812022-12-01106110.5334/jbsr.29021570MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar AtaxiaAlexander Thorvaldsson0Pir Abdul Ahad Aziz Qureshi1Vikram rao Bollineni2The National University Hospital of IcelandThe National University Hospital of IcelandUniversitair Ziekenhuis BrusselOur 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.https://www.jbsr.be/articles/2902spinocerebellar ataxiascerebellar ataxiamagnetic resonance imagingstub1 |
| spellingShingle | Alexander Thorvaldsson Pir Abdul Ahad Aziz Qureshi Vikram rao Bollineni MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia Journal of the Belgian Society of Radiology spinocerebellar ataxias cerebellar ataxia magnetic resonance imaging stub1 |
| 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 | spinocerebellar ataxias cerebellar ataxia magnetic resonance imaging stub1 |
| url | https://www.jbsr.be/articles/2902 |
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