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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Detalles Bibliográficos
Autores principales: Thorvaldsson, Alexander, Qureshi, Pir Abdul Ahad Aziz, rao Bollineni, Vikram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2022
Materias:
Case Report
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
Descripción
Sumario: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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