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Author

J. Pedroso

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Open access Sep 2026

Structural Brain and Spinal Cord Signature of Spinocerebellar Ataxia 27B: A Multisite MRI-Based Study.

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. · 0 citations
Open access Aug 2026

Nonmotor and Extracerebellar Features in Spinocerebellar Ataxia Type 6.

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. · 0 citations
Open access Aug 2026

Cerebellar Cognitive Affective Syndrome in Spinocerebellar Ataxia Type 6

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. · 0 citations
Open access Jul 2026

Unraveling SPG46: Clinical, Genetic, and Neuroimaging Features.

The recurrent GBA2 c.1365G>C;p.(Trp455Cys) variant suggests a potential founder effect and expands the phenotypic spectrum of SPG46 in Brazil.

Raphael Pinheiro Camurugy da Hora, Victor Rebelo Procaci, Julian Letícia de Freitas et al. · 0 citations
Open access Aug 2026

Clinical and Genetic Spectrum of ATP1A3-Related Disorders

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. · 0 citations

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