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Cerebral cortex involvement in Machado−Joseph disease
Author(s) -
Rezende T. J. R.,
D'Abreu A.,
Guimarães R. P.,
Lopes T. M.,
LopesCendes I.,
Cendes F.,
Castellano G.,
França M. C.
Publication year - 2015
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.12559
Subject(s) - machado–joseph disease , medicine , atrophy , precentral gyrus , spinocerebellar ataxia , cerebral cortex , middle frontal gyrus , ataxia , temporal cortex , magnetic resonance imaging , neuroscience , psychology , radiology , psychiatry
Background and purpose Machado−Joseph disease ( MJD / SCA 3) is the most frequent spinocerebellar ataxia, characterized by brainstem, basal ganglia and cerebellar damage. Few magnetic resonance imaging based studies have investigated damage in the cerebral cortex. The objective was to determine whether patients with MJD / SCA 3 have cerebral cortex atrophy, to identify regions more susceptible to damage and to look for the clinical and neuropsychological correlates of such lesions. Methods Forty‐nine patients with MJD / SCA 3 (mean age 47.7 ± 13.0 years, 27 men) and 49 matched healthy controls were enrolled. All subjects underwent magnetic resonance imaging scans in a 3 T device, and three‐dimensional T1 images were used for volumetric analyses. Measurement of cortical thickness and volume was performed using the FreeSurfer software. Groups were compared using ancova with age, gender and estimated intracranial volume as covariates, and a general linear model was used to assess correlations between atrophy and clinical variables. Results Mean CAG expansion, Scale for Assessment and Rating of Ataxia ( SARA ) score and age at onset were 72.1 ± 4.2, 14.7 ± 7.3 and 37.5 ± 12.5 years, respectively. The main findings were (i) bilateral paracentral cortex atrophy, as well as the caudal middle frontal gyrus, superior and transverse temporal gyri, and lateral occipital cortex in the left hemisphere and supramarginal gyrus in the right hemisphere; (ii) volumetric reduction of basal ganglia and hippocampi; (iii) a significant correlation between SARA and brainstem and precentral gyrus atrophy. Furthermore, some of the affected cortical regions showed significant correlations with neuropsychological data. Conclusions Patients with MJD / SCA 3 have widespread cortical and subcortical atrophy. These structural findings correlate with clinical manifestations of the disease, which support the concept that cognitive/motor impairment and cerebral damage are related in disease.