Neurofilaments as biomarkers in neurological disorders—towards clinical application

M Khalil, CE Teunissen, S Lehmann, M Otto… - Nature Reviews …, 2024 - nature.com
Neurofilament proteins have been validated as specific body fluid biomarkers of neuro-
axonal injury. The advent of highly sensitive analytical platforms that enable reliable …

The 2022 lady estelle wolfson lectureship on neurofilaments

A Petzold - Journal of neurochemistry, 2022 - Wiley Online Library
Neurofilament proteins (Nf) have been validated and established as a reliable body fluid
biomarker for neurodegenerative pathology. This review covers seven Nf isoforms, Nf light …

Cerebrospinal fluid biomarkers for assessing Huntington disease onset and severity

NS Caron, AS Haqqani, A Sandhu, AE Aly… - Brain …, 2022 - academic.oup.com
The identification of molecular biomarkers in CSF from individuals affected by Huntington
disease may help improve predictions of disease onset, better define disease progression …

Peripheral biomarkers in manifest and premanifest Huntington's disease

E Morena, C Romano, M Marconi, S Diamant… - International Journal of …, 2023 - mdpi.com
Huntington's disease (HD) is characterized by clinical motor impairment (eg, involuntary
movements, poor coordination, parkinsonism), cognitive deficits, and psychiatric symptoms …

Clinical pharmacology considerations on recombinant adeno‐associated virus–based gene therapy

K Sun, MZ Liao - The Journal of Clinical Pharmacology, 2022 - Wiley Online Library
Recombinant adeno‐associated virus (AAV) is currently the most widely used platform for in
vivo gene therapy. Clinical pharmacology is a central field for AAV gene therapy …

Plasma NfL as a prognostic biomarker for enriching HD-ISS stage 1 categorisation: a cross-sectional study

GM Parkin, EA Thomas, J Corey-Bloom - EBioMedicine, 2023 - thelancet.com
Summary Background The recently proposed Huntington's Disease Integrated Staging
System (HD-ISS) categorises individuals with the Huntintin genetic mutation into disease …

Salivary Huntingtin protein is uniquely associated with clinical features of Huntington's disease

GM Parkin, J Corey-Bloom, C Snell, H Smith… - Scientific reports, 2023 - nature.com
Measuring Huntingtin (HTT) protein in peripheral cells represents an essential step in
biomarker discovery for Huntington's Disease (HD), however to date, investigations into the …

The updated development of blood-based biomarkers for Huntington's disease

S Zhang, Y Cheng, H Shang - Journal of Neurology, 2023 - Springer
Huntington's disease is a progressive neurodegenerative disease caused by mutation of the
huntingtin (HTT) gene. The identification of mutation carriers before symptom onset provides …

Facilitating Huntington's disease research: plasma neurofilament levels as a promising enrichment biomarker for HD-ISS stage 1

C Sampaio, HA Wilkinson - EBioMedicine, 2023 - thelancet.com
Parkin et al. 1 propose the use of blood neurofilament light (NfL) levels as an enrichment
biomarker for individuals with Huntington's disease (HD) who may be classified as …

[HTML][HTML] Benefits of global mutant huntingtin lowering diminish over time in a Huntington's disease mouse model

DM Marchionini, JP Liu, A Ambesi-Impiombato… - JCI insight, 2022 - ncbi.nlm.nih.gov
We have developed an inducible Huntington's disease (HD) mouse model that allows
temporal control of whole-body allele-specific mutant huntingtin (mHtt) expression. We …