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Mild Cognitive Impairment as an Early Landmark in Huntington's Disease
Journal article   Open access   Peer reviewed

Mild Cognitive Impairment as an Early Landmark in Huntington's Disease

Ying Zhang, Junyi Zhou, Carissa R. Gehl, Jeffrey D. Long, Hans Johnson, Vincent A. Magnotta, Daniel Sewell, Kathleen Shannon and Jane S. Paulsen
Frontiers in neurology, Vol.12, 678652
07/01/2021
DOI: 10.3389/fneur.2021.678652
PMCID: PMC8292715
PMID: 34305789
url
https://doi.org/10.3389/fneur.2021.678652View
Published (Version of record) Open Access

Abstract

As one of the clinical triad in Huntington's disease (HD), cognitive impairment has not been widely accepted as a disease stage indicator in HD literature. This work aims to study cognitive impairment thoroughly for prodromal HD individuals with the data from a 12-year observational study to determine whether Mild Cognitive Impairment (MCI) in HD gene-mutation carriers is a defensible indicator of early disease. Prodromal HD gene-mutation carriers evaluated annually at one of 32 worldwide sites from September 2002 to April 2014 were evaluated for MCI in six cognitive domains. Linear mixed-effects models were used to determine age-, education-, and retest-adjusted cut-off values in cognitive assessment for MCI, and then the concurrent and predictive validity of MCI was assessed. Accelerated failure time (AFT) models were used to determine the timing of MCI (single-, two-, and multiple-domain), and dementia, which was defined as MCI plus functional loss. Seven hundred and sixty-eight prodromal HD participants had completed all six cognitive tasks, had MRI, and underwent longitudinal assessments. Over half (i.e., 54%) of the participants had MCI at study entry, and half of these had single-domain MCI. Compared to participants with intact cognitive performances, prodromal HD with MCI had higher genetic burden, worsened motor impairment, greater brain atrophy, and a higher likelihood of estimated HD onset. Prospective longitudinal study of those without MCI at baseline showed that 48% had MCI in subsequent visits and data visualization suggested that single-domain MCI, two-domain MCI, and dementia represent appropriate cognitive impairment staging for HD gene-mutation carriers. Findings suggest that MCI represents an early landmark of HD and may be a sensitive enrichment variable or endpoint for prodromal clinical trials of disease modifying therapeutics.
Clinical Trials Dementia all cognitive disorders mild cognitive impairment prognosis observational study

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