Original Communication

Journal of Neurology

, Volume 260, Issue 9, pp 2370-2379

Widespread neuronal damage and cognitive dysfunction in spinocerebellar ataxia type 3

  • Tátila Martins LopesAffiliated withLaboratory of Neuroimaging, Department of Neurology, University of Campinas-UNICAMP
  • , Anelyssa D′AbreuAffiliated withLaboratory of Neuroimaging, Department of Neurology, University of Campinas-UNICAMP
  • , Marcondes Cavalcante França JuniorAffiliated withLaboratory of Neuroimaging, Department of Neurology, University of Campinas-UNICAMP
  • , Clarissa Lin YasudaAffiliated withLaboratory of Neuroimaging, Department of Neurology, University of Campinas-UNICAMP
  • , Luiz Eduardo BettingAffiliated withLaboratory of Neuroimaging, Department of Neurology, University of Campinas-UNICAMP
  • , Adriana Bastos SamaraAffiliated withLaboratory of Neuroimaging, Department of Neurology, University of Campinas-UNICAMP
  • , Gabriela CastellanoAffiliated withDepartment of Cosmic Rays and Chronology, Institute of Physics GlebWataghin, University of Campinas-UNICAMP
  • , Júlio César SomazzAffiliated withDepartment of Cosmic Rays and Chronology, Institute of Physics GlebWataghin, University of Campinas-UNICAMP
  • , Marcio Luiz Figueredo BalthazarAffiliated withLaboratory of Neuroimaging, Department of Neurology, University of Campinas-UNICAMP
    • , Iscia Lopes-CendesAffiliated withNeuro-genetic Laboratory, Department of Medical Genetics, University of Campinas-UNICAMP
    • , Fernando CendesAffiliated withLaboratory of Neuroimaging, Department of Neurology, University of Campinas-UNICAMPDepartment of Neurology, FCM-UNICAMP, Cidade Universitária Email author 

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Abstract

Previous studies demonstrated cognitive impairments in spinocerebellar ataxia type 3 (SCA3/MJD); however, there is no consensus about the cognitive domains affected and the correlation with structural brain abnormalities. We investigated the neuropsychological profile and 3T-MRI findings, including high-resolution T1-images, diffusion tensor imaging and magnetic resonance spectroscopy of 32 patients with SCA3/MJD and 32 age-, gender- and educational level–matched healthy controls. We reviewed patients’ clinical history and CAG repeat length, and performed assessment and rating of ataxia (SARA)-Brazilian version and the neuropsychiatric inventory. Patients presented worse performance in episodic and working memory and Beck inventories (depression and anxiety). SCA3/MJD patients had a reduction of gray matter volume (GM) in the cerebellum, putamen, cingulum, precentral and parietal lobe. A positive correlation was identified between the cognitive findings and GM of temporal, frontal, parietal, culmen and insula. We observed positive correlation between the brainstem′s fractional anisotropy and digit span-forward. The following cerebellar metabolite groups (measured relative to creatine) were reduced in patients: N-acetyl-aspartate (NAA), NAA + N-acetyl-aspartate-glutamate and glutamate + glutamine (Glx). We found a positive correlation between Corsi’s block-tapping task forward with Glx; semantic verbal fluency with phosphorylcholine and glycerophosphorylcholine; digits span-forward with NAA. The cognitive impairments in SCA3/MJD are associated not only with cerebellar and brainstem abnormalities, but also with neuroimaging evidence of diffuse neuronal and axonal dysfunction, particularly in temporal, frontal, parietal and insular areas.

Keywords

Spinocerebellar ataxia type 3 Cognitive deficits Voxel-based morphometry Diffusion tensor imaging Magnetic resonance spectroscopy