Article

Uncoupling of CSF biomarkers and clinical status in patients with a novel mutation of ATP13a2

2025-09-05

Abstract excerpt

<h4>Summary</h4> Cerebrospinal fluid (CSF) biomarkers are generally assumed to reflect the severity and progression of neurodegenerative disease. We report three siblings carrying a novel heterozygous ATP13A2 variant (p.Pro629Ser) who challenge this paradigm. Despite only slowly progressive cognitive decline, axonal neuropathy, and leukodystrophy on MRI, all established CSF markers of neuronal destruction were pr...

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Literature Corpus work: 67a2c172-cf04-536d-b94b-79e3c20cf328
DOI: 10.1101/2025.09.02.25334661

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