BACKGROUND
SCA27B is a recently described ataxia, the precise anatomical basis of which remains unclear.
OBJECTIVE
The goal was to characterize the structural brain and spinal cord magnetic resonance imaging (MRI) signature of spinocerebellar ataxia 27B (SCA27B) using multimodal quantitative imaging.
METHODS
In thi...
N. B. Santos, C. C. Lobo, T. Rezende et al.· Movement Disorders· 0 citations
The prevalence of nonmotor symptoms and extracerebellar signs in SCA6 is underscored, supporting the possibility of broader neurological involvement in the disease.
B. Massuyama, Fernanda Mary Machado, O. Barsottini et al.· Movement Disorders Clinical...· 0 citations
These exploratory findings suggest cognitive and affective alterations in SCA6 beyond the motor domain, warranting investigation within the Cerebellar Cognitive Affective Syndrome framework.
Fernanda Mary Machado, B. Massuyama, J. S. Gomes et al.· Cerebellum· 0 citations
The results highlight the need for a unified diagnostic framework for ATP1A3-related disorders and demonstrate the feasibility and scientific value of coordinated rare disease research in resource-limited settings.
Victor Rebelo Procaci, Raphael Pinheiro Camurugy da Hora, Anna Maria Gomes et al.· Neurology: Genetics· 0 citations
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