Systematic review: quantitative susceptibility mapping (QSM) of brain iron profile in neurodegenerative diseases

P Ravanfar, SM Loi, WT Syeda… - Frontiers in …, 2021 - frontiersin.org
Iron has been increasingly implicated in the pathology of neurodegenerative diseases. In
the past decade, development of the new magnetic resonance imaging technique …

Huntington disease: natural history, biomarkers and prospects for therapeutics

CA Ross, EH Aylward, EJ Wild, DR Langbehn… - Nature Reviews …, 2014 - nature.com
Huntington disease (HD) can be seen as a model neurodegenerative disorder, in that it is
caused by a single genetic mutation and is amenable to predictive genetic testing, with …

[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 …

Gut dysbiosis in Huntington's disease: associations among gut microbiota, cognitive performance and clinical outcomes

CI Wasser, EC Mercieca, G Kong… - Brain …, 2020 - academic.oup.com
Huntington's disease is characterized by a triad of motor, cognitive and psychiatric
impairments, as well as unintended weight loss. Although much of the research has focused …

Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

B McAllister, J Donaldson, CS Binda, S Powell… - Nature …, 2022 - nature.com
The age at onset of motor symptoms in Huntington's disease (HD) is driven by HTT CAG
repeat length but modified by other genes. In this study, we used exome sequencing of 683 …

Pepinemab antibody blockade of SEMA4D in early Huntington's disease: a randomized, placebo-controlled, phase 2 trial

A Feigin, EE Evans, TL Fisher, JE Leonard, ES Smith… - Nature medicine, 2022 - nature.com
SIGNAL is a multicenter, randomized, double-blind, placebo-controlled phase 2 study (no.
NCT02481674) established to evaluate pepinemab, a semaphorin 4D (SEMA4D)-blocking …

Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases

M Benatar, J Wuu, C McHutchison, RB Postuma… - Brain, 2022 - academic.oup.com
Significant progress has been made in understanding the pre-symptomatic phase of
amyotrophic lateral sclerosis. While much is still unknown, advances in other …

Prediction of manifest Huntington's disease with clinical and imaging measures: a prospective observational study

JS Paulsen, JD Long, CA Ross, DL Harrington… - The Lancet …, 2014 - thelancet.com
Background Although the association between cytosine-adenine-guanine (CAG) repeat
length and age at onset of Huntington's disease is well known, improved prediction of onset …

The neuropsychology of Huntington's disease

JS Snowden - Archives of Clinical Neuropsychology, 2017 - academic.oup.com
Huntington's disease is an inherited, degenerative brain disease, characterized by
involuntary movements, cognitive disorder and neuropsychiatric change. Men and women …

Data analytics from Enroll‐HD, a global clinical research platform for Huntington's disease

GB Landwehrmeyer, CJ Fitzer‐Attas… - Movement disorders …, 2017 - Wiley Online Library
Background The study of complex neurodegenerative diseases is moving away from
hypothesis‐driven biological methods toward large scale multimodal approaches, requiring …