Author

A. L. A. de Albuquerque

3 papers indexed here

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Open access Oct 2026

PACS2-related DEE66: closing a three-decade diagnostic odyssey through electro-radio-genetic correlation and precision therapy

Case Presentation: A 28-year-old female from Maceió, Brazil, presented with drug-resistant early-onset epilepsy beginning at three months of age. Initial seizures consisted of focal motor events associated with cyanosis and episodic nystagmus. During childhood, she exhibited a high seizure burden, with frequent seizure...

Victor Costa Guido Santos, Fernanda Mel Costa Moraes, A. L. A. de Albuquerque et al. · ANPAbstract_CBN26 · 0 citations

Oct 2026

CANVAS, a frequently underrecognized cause of late-onset progressive ataxia: a case report

Case Presentation: J.A.D.S., a 72-year-old man with a history of atrial fibrillation and prior chronic alcohol use, presented with progressive gait ataxia for 12 years with dysphagia and recurrent cough. Neurological examination revealed dysarthria, bilaterally impaired vestibulo-ocular reflex (VOR), lower-limb areflex...

Anna Beatryz Leite de Santana Menezes, Lavínia Voss Agra, Victor Costa Guido Santos et al. · ANPAbstract_CBN26 · 0 citations

Open access Sep 2026

Unbiased bioinformatic and clinical analysis identifies glial fibrillary acidic protein as a potential biomarker in spinal muscular atrophy

Abstract Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by bi-allelic pathogenic variants in SMN1, leading to motor neuron degeneration, muscle atrophy and progressive weakness. Although disease-modifying therapies have recently become available, reliable biomarkers for disease monitoring remai...

Karina Lúcia Soares de Oliveira, Arthur Carpeggiani Weber, M. M. Becker et al. · Brain Communications · 0 citations