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Background
Hereditary spastic paraplegias (HSP) are neurologic disorders characterized by progressive lower‐extremity spasticity. Despite the identification of several HSP‐related genes, many patients lack a genetic diagnosis.
Objectives
The aims were to confirm the pathogenic role of biallelic COQ4 mutations in HSP and elucidate the clinical, genetic, and functional molecular features of COQ4‐associated...
Background
Wilson disease is a rare, disabling, neurological genetic disease. Biomarkers of brain damage are less well developed.
Objective
The aim of this study was to evaluate the utility of plasma glial fibrillary acidic protein as a biomarker for neurological involvement in patients with Wilson disease.
Methods
This prospective cross‐observational study compared plasma glial fibrillary acidic...
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