MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia

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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Bibliographic Details
Main Authors: Alexander Thorvaldsson, Pir Abdul Ahad Aziz Qureshi, Vikram rao Bollineni
Format: Article
Language:English
Published: Ubiquity Press 2022-12-01
Series:Journal of the Belgian Society of Radiology
Subjects:
spinocerebellar ataxias
cerebellar ataxia
magnetic resonance imaging
stub1
Online Access:https://www.jbsr.be/articles/2902
Description
Summary: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.
ISSN:2514-8281

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