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J Huntingtons Dis. 2016;5(1):1-13. doi: 10.3233/JHD-160196.

Cerebrospinal Fluid Biomarkers for Huntington's Disease.

Abstract

Cerebrospinal fluid (CSF) is enriched in brain-derived components and represents an accessible and appealing means of interrogating the CNS milieu to study neurodegenerative diseases and identify biomarkers to facilitate the development of novel therapeutics. Many such CSF biomarkers have been proposed for Huntington's disease (HD) but none has been validated for clinical trial use. Across many studies proposing dozens of biomarker candidates, there is a notable lack of statistical power, consistency, rigor and validation. Here we review proposed CSF biomarkers including neurotransmitters, transglutaminase activity, kynurenine pathway metabolites, oxidative stress markers, inflammatory markers, neuroendocrine markers, protein markers of neuronal death, proteomic approaches and mutant huntingtin protein itself. We reflect on the need for large-scale, standardized CSF collections with detailed phenotypic data to validate and qualify much-needed CSF biomarkers for clinical trial use in HD.

KEYWORDS:

Huntington’s disease; biomarkers; cerebrospinal fluid; clinical trial; disease progression; neurodegenerative disease

PMID:
27031730
DOI:
10.3233/JHD-160196
[Indexed for MEDLINE]

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