Are gait initiation parameters early markers of Huntington's disease in pre-manifest mutation carriers?

2011 ◽  
Vol 34 (2) ◽  
pp. 202-207 ◽  
Author(s):  
Arnaud Delval ◽  
Séverine Bleuse ◽  
Clémence Simonin ◽  
Marie Delliaux ◽  
Benjamin Rolland ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Gait Initiation ◽  
Mutation Carriers ◽  
Early Markers

Autonomic symptoms in patients and pre-manifest mutation carriers of Huntington’s disease

2010 ◽  
Vol 17 (8) ◽  
pp. 1068-1074 ◽  
Author(s):  
N. A. Aziz ◽  
G. V. Anguelova ◽  
J. Marinus ◽  
J. G. Van Dijk ◽  
R. A. C. Roos
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Autonomic Symptoms ◽  
Mutation Carriers

scholarly journals Evaluation of gait initiation parameters using inertial sensors in Huntington's Disease: Insights into anticipatory postural adjustments and cognitive interference

2020 ◽  
Author(s):  
Radhika Desai ◽  
Nora E Fritz ◽  
Lisa Muratori ◽  
Jeffrey M. Hausdorff ◽  
Lori Quinn
Keyword(s):  
Cognitive Load ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Gait Speed ◽  
Load Condition ◽  
Anticipatory Postural Adjustments ◽  
Gait Initiation ◽  
Healthy Controls ◽  
Postural Adjustments ◽  
Single Task

Background and Purpose: Understanding the contribution of anticipatory postural adjustments (APA) on walking ability in individuals with Huntington's disease (HD) may provide insight into motor planning and the functional consequences of HD-specific cortical-basal ganglia pathway dysfunctions. The purpose of this study was to evaluate inertial measurement unit (IMU)-derived measures of APAs and first step parameters, and their contribution to gait speed, in individuals with and without manifest HD during a single-task and cognitive load condition. Methods: 33 individuals with manifest HD and 15 age-matched healthy controls wore three Opal APDM IMUs during a 14-meter walk during a single task and cognitive load condition. APA acceleration amplitudes, APA durations, first step range of motion (ROMs), and first step duration were compared, along with their relationship to gait speed. Results: Individuals with HD had significantly greater APA acceleration amplitudes, smaller first step ROMs and longer first step durations compared to healthy controls. No difference in APA durations were present between groups across conditions. Linear model results and significant correlations between mediolateral APA acceleration amplitudes and APA durations were found. Conclusions: Larger acceleration amplitudes, smaller first step ROMs of greater duration, accompanied by the preservation of APA durations reveal a discrepancy in movement scaling in HD. Additionally, the mediolateral component of the APA is likely a rate-limiting factor that drives a compensatory response in gait initiation. Additional research is needed to explore the neural correlates of HD-related movement scaling.

E7 Posturography and mri study in premanifest huntington’s disease subjects to investigate stance abnormalities and early markers of neurodegeneration

2016 ◽  
Vol 87 (Suppl 1) ◽  
pp. A47.3-A48
Author(s):  
Lorenzo Nanetti ◽  
Simone Nava ◽  
Valeria Contarino ◽  
Serena Frittoli ◽  
Andrea Ciammola ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Early Markers ◽  
Mri Study

scholarly journals Whole-Brain Connectivity in a Large Study of Huntington's Disease Gene Mutation Carriers and Healthy Controls

2018 ◽  
Vol 8 (3) ◽  
pp. 166-178 ◽  
Author(s):  
Flor A. Espinoza ◽  
Jessica A. Turner ◽  
Victor M. Vergara ◽  
Robyn L. Miller ◽  
Eva Mennigen ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Gene Mutation ◽  
Large Study ◽  
Disease Gene ◽  
Brain Connectivity ◽  
Healthy Controls ◽  
Whole Brain ◽  
Mutation Carriers

Attention, inhibition, and proximity to clinical onset in preclinical mutation carriers for Huntington's disease

2007 ◽  
Vol 29 (3) ◽  
pp. 235-246 ◽  
Author(s):  
Maree Farrow ◽  
Andrew Churchyard ◽  
Phyllis Chua ◽  
John L. Bradshaw ◽  
Edmond Chiu ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical Onset ◽  
Mutation Carriers

scholarly journals Brain-derived neurotrophic factor in cerebrospinal fluid and plasma is not a biomarker for Huntington’s disease

2020 ◽  
Author(s):  
Zhen-Yi Andy Ou ◽  
Lauren M. Byrne ◽  
Filipe B. Rodrigues ◽  
Rosanna Tortelli ◽  
Eileanoir B. Johnson ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Neurotrophic Factor ◽  
Limit Of Detection ◽  
Brain Derived Neurotrophic Factor ◽  
Striatal Neurons ◽  
Mutation Carriers ◽  
Potential Biomarker ◽  
And Gender

AbstractBrain-derived neurotrophic factor (BDNF) is implicated in the survival of striatal neurons. BDNF function is reduced in Huntington’s disease (HD), possibly because mutant huntingtin impairs its cortico-striatal transport, contributing to striatal neurodegeneration. The BDNF trophic pathway is a therapeutic target, and blood BDNF has been suggested as a potential biomarker for HD, but BDNF has not been quantified in cerebrospinal fluid (CSF) in HD.BDNF in CSF and plasma in the HD-CSF cohort (20 pre-manifest and 40 manifest HD mutation carriers and 20 age and gender-matched controls) were quantified using conventional ELISAs and an ultra-sensitive immunoassay.BDNF concentration was below the limit of detection of the conventional ELISAs, raising doubt about previous CSF reports in neurodegeneration. Using the ultra-sensitive method, BDNF concentration was quantifiable in all samples but did not differ between controls and HD mutation carriers in CSF or plasma, was not associated with clinical scores or MRI brain volumetric measures, and had poor ability to discriminate controls from HD mutation carriers, and premanifest from manifest HD.BDNF in CSF and plasma is unlikely to be a biomarker of HD progression, and urge caution in interpreting studies where conventional ELISA was used to quantify CSF BDNF.

scholarly journals Attentional compensation in neurodegenerative diseases: the model of premanifest Huntington's disease mutation carriers

2020 ◽  
Author(s):  
Lorna Le Stanc ◽  
Marine Lunven ◽  
Maria Giavazzi ◽  
Agnes Sliwinski ◽  
Pierre Brugieres ◽  
...  
Keyword(s):  
Neurodegenerative Diseases ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Model ◽  
Accumulation Rate ◽  
Computational Modelling ◽  
Response Threshold ◽  
Mutation Carriers ◽  
Compensation Mechanisms ◽  
The Brain

The ability of the brain to actively cope with neuropathological insults is known as neural compensation. It explains the delayed appearance of cognitive symptoms in neurodegenerative diseases. In contrast to the neural signature of compensation, its cognitive counterpart is largely unknown due to the difficulty of identifying cognitive dysfunctions concealed by compensation mechanisms. We combined computational modelling and neuroanatomical analysis to explore cognitive compensation. We used Huntington's disease (HD) as a genetic model of neurodegenerative disease allowing to study compensation in premanifest mutation carriers (preHDs) free from overt cognitive deficits despite incipient brain atrophy. Twenty preHDs, 28 HD patients and 45 controls performed a discrimination task. We investigated the processes underlying cognitive compensation using drift diffusion models. They assume that the discrimination process relies on the accumulation of evidence at a certain rate and terminates when a response threshold is reached. HD patients' performances were lower than controls' and explained by a higher response threshold and a lower accumulation rate compared to controls. PreHDs performed similarly to controls but had a response threshold between those of controls and HD patients. This nascent increase in response threshold predicted the accumulation rate, which was faster than controls. This suggests that the higher accumulation rate conceals the nascent deficit in response threshold corroborating the capacity of the brain to resist neuropathological insults in preHDs. The higher accumulation rate was associated with parietal hypertrophy in mutation carriers, and with higher hippocampal volumes in preHDs suggesting that cognitive compensation may rely on attentional capacities.

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