AUTHOR=Sobana Siti Aminah , Huda Fathul , Hermawan Robby , Sribudiani Yunia , Koan Tan Siauw , Dian Sofiati , Ong Paulus Anam , Dahlan Nushrotul Lailiyya , Utami Nastiti , Pusparini Iin , Gamayani Uni , Mohamed Ibrahim Norlinah , Achmad Tri Hanggono 

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

JOURNAL=Frontiers in Neurology

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.912592

DOI=10.3389/fneur.2022.912592

ISSN=1664-2295

ABSTRACT=Introduction: Spinocerebellar ataxia type-3 (SCA3) is an autosomal dominant adult-onset neurodegenerative disease. Brain MRI volumetric studies could evaluate brain structures in SCA3. 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.
Methodology: The 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 3T 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). 
Result: We 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).
Conclusion: Brain 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.