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Plasma neurofilament heavy chain levels in Huntington's disease.

Neuroscience Letters

Aged, Axons, metabolism, pathology, Biological Markers, analysis, blood, Brain, physiopathology, Brain Chemistry, physiology, Disease Progression, Early Diagnosis, Enzyme-Linked Immunosorbent Assay, Female, Heterozygote Detection, methods, Humans, Huntington Disease, genetics, diagnosis, Male, Middle Aged, Mutation, Nerve Degeneration, Nerve Tissue Proteins, Neurofilament Proteins, Nuclear Proteins, Predictive Value of Tests, Prognosis, Trinucleotide Repeat Expansion, Adult

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      There is a need for biomarkers of onset and progression in Huntington's disease (HD), as current outcome measures lack the reliability to enable the efficient conduct of disease-modifying trials. Neurofilament heavy chain (NfH) is a neuron-specific protein for the neuro-axonal compartment that has been proposed as a marker for axonal injury, degeneration and loss and its clinical use as a biomarker has been suggested in several neurodegenerative diseases. We used an enzyme-linked immunosorbent assay to quantify NfH levels in plasma in control subjects, premanifest HD mutation carriers and subjects with early and moderate manifest HD. We found no correlation between plasma NfH level and disease stage, or calculated parameters based on CAG repeat length, the major determinant of disease course in HD, and no evidence that NfH may be a predictor of disease onset. We conclude that plasma NfH concentration is not a useful biomarker of onset or progression in HD.

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