Buccal Epithelial Cells as Potential Non‑ invasive Materials for the Monitoring of Mitochondrial Disturbances to Track Huntington‘s Disease Progression –  a Pilot Study

2015 ◽  
Vol 78/111 (S2) ◽  
pp. 49-54
Author(s):  
Marie Rodinová ◽  
E. Trefilová ◽  
I. Lišková ◽  
Jiří Klempíř ◽  
Zdenka Ellederová ◽  
...  
Keyword(s):  
Pilot Study ◽  
Epithelial Cells ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Progression ◽  
Non Invasive ◽  
Buccal Epithelial Cells

scholarly journals Cross-sectional analysis of plasma and CSF metabolomic markers in Huntington’s disease for participants of varying functional disability: a pilot study

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Andrew McGarry ◽  
John Gaughan ◽  
Cory Hackmyer ◽  
Jacqueline Lovett ◽  
Mohammed Khadeer ◽  
...  
Keyword(s):  
Pilot Study ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Progression ◽  
Functional Disability ◽  
Clinical Staging ◽  
Unexpected Finding ◽  
Full Spectrum ◽  
Cross Sectional ◽  
Organ Systems

AbstractHuntington’s Disease (HD) is a progressive, fatal neurodegenerative condition. While generally considered for its devastating neurological phenotype, disturbances in other organ systems and metabolic pathways outside the brain have attracted attention for possible relevance to HD pathology, potential as therapeutic targets, or use as biomarkers of progression. In addition, it is not established how metabolic changes in the HD brain correlate to progression across the full spectrum of early to late-stage disease. In this pilot study, we sought to explore the metabolic profile across manifest HD from early to advanced clinical staging through metabolomic analysis by mass spectrometry in plasma and cerebrospinal fluid (CSF). With disease progression, we observed nominally significant increases in plasma arginine, citrulline, and glycine, with decreases in total and d-serine, cholesterol esters, diacylglycerides, triacylglycerides, phosphatidylcholines, phosphatidylethanolamines, and sphingomyelins. In CSF, worsening disease was associated with nominally significant increases in NAD+, arginine, saturated long chain free fatty acids, diacylglycerides, triacylglycerides, and sphingomyelins. Notably, diacylglycerides and triacylglyceride species associated with clinical progression were different between plasma and CSF, suggesting different metabolic preferences for these compartments. Increasing NAD+ levels strongly correlating with disease progression was an unexpected finding. Our data suggest that defects in the urea cycle, glycine, and serine metabolism may be underrecognized in the progression HD pathology, and merit further study for possible therapeutic relevance.

Voxel-based morphometry at the single subject level: a pilot study in early Huntington's disease

2008 ◽  
Vol 35 (S 01) ◽  
Author(s):  
M Mühlau ◽  
A Wohlschläger ◽  
C Gaser ◽  
M Valet ◽  
S Nunnemann ◽  
...  
Keyword(s):  
Pilot Study ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Single Subject ◽  
Voxel Based Morphometry

scholarly journals Exposure of R6/2 mice in an enriched environment augments P42 therapy efficacy on Huntington's disease progression

2021 ◽  
Vol 186 ◽  
pp. 108467
Author(s):  
Simon Couly ◽  
Allison Carles ◽  
Morgane Denus ◽  
Lorraine Benigno-Anton ◽  
Florence Maschat ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Progression ◽  
Enriched Environment ◽  
Therapy Efficacy

Longitudinal pilot-study of Sustained Attention to Response Task and P300 in manifest and pre-manifest Huntington's disease

2013 ◽  
Vol 9 (1) ◽  
pp. 10-20 ◽  
Author(s):  
Ellen P. Hart ◽  
Eve M. Dumas ◽  
Erik W. van Zwet ◽  
Karin van der Hiele ◽  
Caroline K. Jurgens ◽  
...  
Keyword(s):  
Pilot Study ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Sustained Attention ◽  
Response Task

scholarly journals QEEG Measures in Huntington’s Disease: A Pilot Study

PLoS Currents ◽  
2010 ◽  
Author(s):  
Aimee M. Hunter ◽  
Yvette M. Bordelon ◽  
Ian A. Cook ◽  
Andrew F. Leuchter
Keyword(s):  
Pilot Study ◽  
Huntington's Disease ◽  
Huntington’S Disease

Contemporary Dance Practice Improves Motor Function and Body Representation in Huntington’s Disease: A Pilot Study

2019 ◽  
Vol 8 (1) ◽  
pp. 97-110 ◽  
Author(s):  
Iris Trinkler ◽  
Philippe Chéhère ◽  
Julie Salgues ◽  
Marie-Lorraine Monin ◽  
Sophie Tezenas du Montcel ◽  
...  
Keyword(s):  
Pilot Study ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Motor Function ◽  
Body Representation ◽  
Contemporary Dance

scholarly journals Circadian-based Treatment Strategy Effective in the BACHD Mouse Model of Huntington’s Disease

2018 ◽  
Vol 33 (5) ◽  
pp. 535-554 ◽  
Author(s):  
Daniel S. Whittaker ◽  
Dawn H. Loh ◽  
Huei-Bin Wang ◽  
Yu Tahara ◽  
Dika Kuljis ◽  
...  
Keyword(s):  
Mouse Model ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Progression ◽  
Sleep Onset ◽  
Lifestyle Changes ◽  
Disease Stage ◽  
Preclinical Model ◽  
Delay Disease Progression ◽  
Circadian Dysfunction

Huntington’s disease (HD) patients suffer from progressive neurodegeneration that results in cognitive, psychiatric, cardiovascular, and motor dysfunction. Disturbances in sleep-wake cycles are common among HD patients with reports of delayed sleep onset, frequent bedtime awakenings, and excessive fatigue. The BACHD mouse model exhibits many HD core symptoms including circadian dysfunction. Because circadian dysfunction manifests early in the disease in both patients and mouse models, we sought to determine if early interventions that improve circadian rhythmicity could benefit HD symptoms and delay disease progression. We evaluated the effects of time-restricted feeding (TRF) on the BACHD mouse model. At 3 months of age, the animals were divided into 2 groups: ad lib and TRF. The TRF-treated BACHD mice were exposed to a 6-h feeding/18-h fasting regimen that was designed to be aligned with the middle (ZT 15-21) of the period when mice are normally active (ZT 12-24). Following 3 months of treatment (when mice reached the early disease stage), the TRF-treated BACHD mice showed improvements in their locomotor activity and sleep behavioral rhythms. Furthermore, we found improved heart rate variability, suggesting that their autonomic nervous system dysfunction was improved. On a molecular level, TRF altered the phase but not the amplitude of the PER2::LUC rhythms measured in vivo and in vitro. Importantly, treated BACHD mice exhibited improved motor performance compared with untreated BACHD controls, and the motor improvements were correlated with improved circadian output. It is worth emphasizing that HD is a genetically caused disease with no known cure. Lifestyle changes that not only improve the quality of life but also delay disease progression for HD patients are greatly needed. Our study demonstrates the therapeutic potential of circadian-based treatment strategies in a preclinical model of HD.

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