Author(s):
Arruda, Walter Oleschko ; Meira, Alex Tiburtino ; Ono, Sergio Eiji ; Carvalho Neto, Arnolfo de ; Betting, Luiz Eduardo Gomes Garcia [UNESP] ; Raskin, Salmo ; Camargo, Carlos Henrique F. ; Teive, Helio Afonso Ghizoni
Date: 2020
Persistent ID: http://hdl.handle.net/11449/196851
Origin: Oasisbr
Subject(s): Spinocerebellar ataxias; Machado-Joseph disease; Ataxins; Neuroimaging; Magnetic resonance imaging; Spinocerebellar ataxias; Spinocerebellar ataxias; Machado-Joseph disease; Machado-Joseph disease; Ataxins; Ataxins; Neuroimaging; Neuroimaging; Magnetic resonance imaging; Magnetic resonance imaging
Description
Made available in DSpace on 2020-12-10T19:58:10Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-05-04
Spinocerebellar ataxias type 3 (SCA3) and type 10 (SCA10) are the most prevalent in southern Brazil. To analyze the relationships between volumetric MRI changes and clinical and genetic findings in SCA3 and SCA10 patients. All patients in the study had a confirmed genetic diagnosis. Demographic data, ataxia severity (SARA score), and the size of the expanded alleles were evaluated. Nineteen SCA3 and 18 SCA10 patients were selected and compared with a similar number of healthy controls. Patient and control groups underwent the same MRI protocol. The standard FreeSurfer pipeline was used for the morphometric data. Our results show more affected brain structures (volume reductions) in SCA3 patients than in SCA10 patients (15 vs. 5 structures). Volume reductions in brain structures were also greater in the former. The main areas with significant volumetric reductions in the former were the cerebellum, basal ganglia, brain stem, and diencephalon, whereas in the latter, significant volume reductions were observed in the cerebellum and pallidum. While SARA scores and disease duration were more correlated with volume reduction in SCA10, in SCA3, the expansion length (CAGn) correlated positively with cerebellar WM, thalamus, brain stem, and total GM volumes. There was no correlation between expansion length (ATTCTn) and neuroimaging findings in SCA10. Neuroimaging results differed significantly between SCA3 and SCA10 patients and were compatible with the differences in clinical presentation, disease progression, and molecular findings.
Univ Fed Parana, Hosp Clin, Internal Med Dept, Movement Disorders Unit,Neurol Serv, Rua Gen Carneiro 1103-102, Curitiba 80060150, PR, Brazil
Diagnost Avancado Imagem, DAPI, Curitiba, PR, Brazil
Univ Fed Parana, Hosp Clin, Internal Med Dept, Neurol Dis Grp,Grad Program Internal Med, Rua Gen Carneiro 1103-102, Curitiba 80060150, PR, Brazil
Julio Mesquita Filho State Univ Sao Paulo, Botucatu Sch Med, Dept Neurol Psychol & Psychiat, Botucatu, SP, Brazil
Genetika Genet Counseling Ctr & Lab, Curitiba, PR, Brazil
Julio Mesquita Filho State Univ Sao Paulo, Botucatu Sch Med, Dept Neurol Psychol & Psychiat, Botucatu, SP, Brazil
