Evaluation of mutant huntingtin and neurofilament proteins as potential markers in Huntington’s disease

Journal: Science Translational Medicine

Published: 2018-09-12

DOI: 10.1126/scitranslmed.aat7108

Affiliations: 12

Authors: 13

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Research Highlight

A new test for Huntington’s progression

© Westend61/Getty

© Westend61/Getty

Tests for early indicators of Huntington’s disease in blood or spinal fluid could help treat or prevent the progressive neurodegenerative disorder.

A team that included scientists from Roche have now shown that biofluid levels of the mutant huntingtin protein and neurofilament light (NfL) — a general protein marker of neuronal damage — are both indicative of disease severity in patients diagnosed with Huntington’s.

Changes in these biomarkers are sometimes evident even before neurodegeneration can be seen in brain scans.

The researchers found that spinal fluid concentrations of mutant huntingtin best distinguished between people with and without the Huntington’s-causing gene. However, within gene carriers, measures of NfL tracked more closely with clinical symptoms and with changes in brain volume.

Roche and other drug companies are now incorporating analyses of both huntingtin and NfL into their clinical trials as exploratory biomarkers for determining the efficacy of experimental therapies.

Supported content

  1. Science Translational Medicine 10, eaat7108 (2018). doi: 10.1126/scitranslmed.aat7108
Institutions Share
UCL, United Kingdom (UK) 0.61
F. Hoffmann-La Roche Ltd., Switzerland 0.23
National Hospital for Neurology and Neurosurgery (NHNN), UCLH, United Kingdom (UK) 0.04
King's College London (KCL), United Kingdom (UK) 0.04
Clinical Imaging Research Centre (CIRC), Singapore 0.03
UK DRI at UCL (UK DRI UCL), United Kingdom (UK) 0.02
Sahlgrenska Academy, GU, Sweden 0.02
Sahlgrenska University Hospital (SU), GU, Sweden 0.02