AI Article Synopsis
- * Genetic analysis confirmed the presence of a STUB1 mutation, linking her condition to SCAR-16, a type of STUB1-associated cerebellar ataxia.
- * The report aims to educate radiologists on the MRI and CT features of this condition and how to distinguish between SCAR-16 and SCA-48 types of STUB1-associated cerebellar ataxia.
Article Abstract
Unlabelled: 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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756905 | PMC |
| http://dx.doi.org/10.5334/jbsr.2902 | DOI Listing |
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