A biological classification of Huntington's disease: the Integrated Staging System

SJ Tabrizi, S Schobel, EC Gantman… - The Lancet …, 2022 - thelancet.com
The current research paradigm for Huntington's disease is based on participants with overt
clinical phenotypes and does not address its pathophysiology nor the biomarker changes …

Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunities

SJ Tabrizi, C Estevez-Fraga… - The Lancet …, 2022 - thelancet.com
Huntington's disease is the most frequent autosomal dominant neurodegenerative disorder;
however, no disease-modifying interventions are available for patients with this disease. The …

[HTML][HTML] Microglia and complement mediate early corticostriatal synapse loss and cognitive dysfunction in Huntington's disease

DK Wilton, K Mastro, MD Heller, FW Gergits… - Nature medicine, 2023 - nature.com
Huntington's disease (HD) is a devastating monogenic neurodegenerative disease
characterized by early, selective pathology in the basal ganglia despite the ubiquitous …

Neurofilament proteins as biomarkers to monitor neurological diseases and the efficacy of therapies

A Yuan, RA Nixon - Frontiers in neuroscience, 2021 - frontiersin.org
Biomarkers of neurodegeneration and neuronal injury have the potential to improve
diagnostic accuracy, disease monitoring, prognosis, and measure treatment efficacy …

[HTML][HTML] Long somatic DNA-repeat expansion drives neurodegeneration in Huntington's disease

RE Handsaker, S Kashin, NM Reed, S Tan, WS Lee… - Cell, 2025 - cell.com
In Huntington's disease (HD), striatal projection neurons (SPNs) degenerate during midlife;
the core biological question involves how the disease-causing DNA repeat (CAG) n in the …

Antisense oligonucleotide therapy: from design to the Huntington disease clinic

ME Rook, AL Southwell - BioDrugs, 2022 - Springer
Huntington disease (HD) is a fatal progressive neurodegenerative disorder caused by an
inherited mutation in the huntingtin (HTT) gene, which encodes mutant HTT protein. Though …

Mutant huntingtin and neurofilament light have distinct longitudinal dynamics in Huntington's disease

FB Rodrigues, LM Byrne, R Tortelli… - Science translational …, 2020 - science.org
The longitudinal dynamics of the most promising biofluid biomarker candidates for
Huntington's disease (HD)—mutant huntingtin (mHTT) and neurofilament light (NfL)—are …

Neurogenetic disorders across the lifespan: from aberrant development to degeneration

RA Hickman, SA O'Shea, MF Mehler… - Nature Reviews …, 2022 - nature.com
Intellectual disability and autism spectrum disorder (ASD) are common, and genetic testing
is increasingly performed in individuals with these diagnoses to inform prognosis, refine …

[HTML][HTML] Neuroinflammation in Huntington's disease: a starring role for astrocyte and microglia

J Saba, FL Couselo, J Bruno, L Carniglia… - Current …, 2022 - ncbi.nlm.nih.gov
Huntington's disease (HD) is a neurodegenerative genetic disorder caused by a CAG repeat
expansion in the huntingtin gene. HD causes motor, cognitive, and behavioral dysfunction …

Developmental defects in Huntington's disease show that axonal growth and microtubule reorganization require NUMA1

M Capizzi, R Carpentier, E Denarier, A Adrait… - Neuron, 2022 - cell.com
Although the classic symptoms of Huntington's disease (HD) manifest in adulthood, neural
progenitor cell behavior is already abnormal by 13 weeks' gestation. To determine how …