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 …

Huntington's disease: a clinical review

P McColgan, SJ Tabrizi - European journal of neurology, 2018 - Wiley Online Library
Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a
dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on …

[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 …

Targeting huntingtin expression in patients with Huntington's disease

SJ Tabrizi, BR Leavitt… - … England Journal of …, 2019 - Mass Medical Soc
Background Huntington's disease is an autosomal-dominant neurodegenerative disease
caused by CAG trinucleotide repeat expansion in HTT, resulting in a mutant huntingtin …

The biology of huntingtin

F Saudou, S Humbert - Neuron, 2016 - cell.com
Huntingtin (HTT) is now a famous protein because an abnormal expansion of a glutamine
stretch (polyQ) in its N-terminal sequence leads to the devastating neurodegenerative …

The connectomics of brain disorders

A Fornito, A Zalesky, M Breakspear - Nature Reviews Neuroscience, 2015 - nature.com
Pathological perturbations of the brain are rarely confined to a single locus; instead, they
often spread via axonal pathways to influence other regions. Patterns of such disease …

Diagnostic contribution and therapeutic perspectives of transcranial magnetic stimulation in dementia

V Di Lazzaro, R Bella, A Benussi, M Bologna… - Clinical …, 2021 - Elsevier
Transcranial magnetic stimulation (TMS) is a powerful tool to probe in vivo brain circuits, as it
allows to assess several cortical properties such as excitability, plasticity and connectivity in …

Artificial intelligence in neurodegenerative diseases: A review of available tools with a focus on machine learning techniques

AM Tăuţan, B Ionescu, E Santarnecchi - Artificial intelligence in medicine, 2021 - Elsevier
Neurodegenerative diseases have shown an increasing incidence in the older population in
recent years. A significant amount of research has been conducted to characterize these …

Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis

LM Byrne, FB Rodrigues, K Blennow, A Durr… - The Lancet …, 2017 - thelancet.com
Background Blood biomarkers of neuronal damage could facilitate clinical management of
and therapeutic development for Huntington's disease. We investigated whether …

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross …

JD Rohrer, JM Nicholas, DM Cash… - The Lancet …, 2015 - thelancet.com
Background Frontotemporal dementia is a highly heritable neurodegenerative disorder. In
about a third of patients, the disease is caused by autosomal dominant genetic mutations …