Brain MRI Volumetry Analysis in an Indonesian Family of SCA 3 Patients: A Case-Based Study

Frontiers in Neurology

Fathul Huda¹  Yunia Sribudiani¹  Tri Hanggono Achmad¹  Norlinah Mohamed Ibrahim²  Nastiti Utami³  Uni Gamayani³  Iin Pusparini³  Sofiati Dian³  Nushrotul Lailiyya Dahlan³  Paulus Anam Ong³  Robby Hermawan⁴  Tan Siauw Koan⁴  Siti Aminah Sobana⁵ 

[1] Department of Biomedical Sciences, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia;Department of Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Center, Kuala Lumpur, Malaysia;Department of Neurology, Faculty of Medicine, Dr. Hasan Sadikin Central General Hospital/Universitas Padjadjaran, Bandung, Indonesia;Department of Radiology, Saint Borromeus Hospital, Bandung, Indonesia;Doctoral Study Program, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia;Research Center of Medical Genetics, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia;

关键词: SCA3;    volumetry;    brain;    MRI;    Indonesia;   

DOI  :  10.3389/fneur.2022.912592

来源: DOAJ

【 摘 要 】

IntroductionSpinocerebellar ataxia type-3 (SCA3) is an adult-onset autosomal dominant neurodegenerative disease. It is caused by expanding of CAG repeat in ATXN3 gene that later on would affect brain structures. This brain changes could be evaluated using brain MRI volumetric. However, findings across published brain volumetric studies have been inconsistent. Here, we report MRI brain volumetric analysis in a family of SCA 3 patients, which included pre-symptomatic and symptomatic patients.MethodologyThe study included affected and unaffected members from a large six-generation family of SCA 3, genetically confirmed using PolyQ/CAG repeat expansion analysis, Sanger sequencing, and PCR. Clinical evaluation was performed using Scale for the Assessment and Rating of Ataxia (SARA). Subjects' brains were scanned using 3.0-T MRI with a 3D T1 BRAVO sequence. Evaluations were performed by 2 independent neuroradiologists. An automated volumetric analysis was performed using FreeSurfer and CERES (for the cerebellum).ResultWe evaluated 7 subjects from this SCA3 family, including 3 subjects with SCA3 and 4 unaffected subjects. The volumetric evaluation revealed smaller brain volumes (p < 0.05) in the corpus callosum, cerebellar volume of lobules I-II, lobule IV, lobule VIIB and lobule IX; and in cerebellar gray matter volume of lobule IV, and VIIIA; in the pathologic/expanded CAG repeat group (SCA3).ConclusionBrain MRI volumetry of SCA3 subjects showed smaller brain volumes in multiple brain regions including the corpus callosum and gray matter volumes of several cerebellar lobules.

【 授权许可】

Unknown