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M. França

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Review Open access Sep 2026

Phenotypic Spectrum and Clinical Approach to Early-Onset Hereditary Spastic Paraplegia.

BACKGROUND Early-onset hereditary spastic paraplegias (HSPs) are an underrecognized cause of progressive spasticity, gait impairment, and movement disorders in children and young adults. HSPs frequently mimic cerebral palsy or genetic, metabolic, and acquired disorders, resulting in diagnostic delay. Their broad phenot...

Jenny L. Wilson, Craig Blackstone, D. Ebrahimi-Fakhari 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 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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