scholarly journals Safety, pharmacokinetics and pharmacodynamics of SBT‐020 in patients with early stage Huntington's disease, a 2‐part study

2020 ◽  
Author(s):  
Marcus P.J. Diemen ◽  
Ellen P. Hart ◽  
Anthony Abbruscato ◽  
Liz Mead ◽  
Ilse Beelen ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Early Stage ◽  
Pharmacokinetics And Pharmacodynamics

scholarly journals Fiberoptic endoscopic evaluation of swallowing in early-to-advanced stage Huntington’s disease

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Antonio Schindler ◽  
Nicole Pizzorni ◽  
Jenny Sassone ◽  
Lorenzo Nanetti ◽  
Anna Castaldo ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Neurodegenerative Disorder ◽  
Early Stage ◽  
Clinical Care ◽  
Self Report ◽  
Advanced Stage ◽  
Endoscopic Evaluation ◽  
Silent Aspiration ◽  
Scale Scores

Abstract Huntington's disease (HD) is a neurodegenerative disorder characterized by motor disturbances, cognitive decline, and behaviour changes. A well-recognized feature of advanced HD is dysphagia, which leads to malnutrition and aspiration pneumonia, the latter being the primary cause of death in HD. Previous studies have underscored the importance of dysphagia in HD patients with moderate-to-advanced stage disease, but it is unclear whether dysphagia affects patients already at an early stage of disease and whether genetic or clinical factors can predict its severity. We performed fiberoptic endoscopic evaluation of swallowing (FEES) in 61 patients with various stages of HD. Dysphagia was found in 35% of early-stage, 94% of moderate-stage, and 100% of advanced-stage HD. Silent aspiration was found in 7.7% of early-stage, 11.8% of moderate-stage, and 27.8% of advanced-stage HD. A strong correlation was observed between disease progression and dysphagia severity: worse dysphagia was associated with worsening of motor symptoms. Dysphagia severity as assessed by FEES correlated with Huntington’s Disease Dysphagia Scale scores (a self-report questionnaire specific for evaluating swallowing in HD). The present findings add to our understanding of dysphagia onset and progression in HD. A better understanding of dysphagia onset and progression in HD may inform guidelines for standard clinical care in dysphagia, its recognition, and management.

H05 Prevalence And Correlates Of Neuropsychiatric Symptoms In Pre-manifested And Early Stage Huntington's Disease

2014 ◽  
Vol 85 (Suppl 1) ◽  
pp. A53-A53
Author(s):  
S. Martinez-Horta ◽  
J. Perez-Perez ◽  
M. Carceller ◽  
R. de Bobadilla ◽  
J. Pagonabarraga ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Early Stage ◽  
Neuropsychiatric Symptoms

Neuropsychological manifestations of the genetic mutation for Huntington's disease in presymptomatic individuals

2002 ◽  
Vol 8 (7) ◽  
pp. 918-924 ◽  
Author(s):  
JASON BRANDT ◽  
BARNETT SHPRITZ ◽  
ANN MARIE CODORI ◽  
RUSSELL MARGOLIS ◽  
ADAM ROSENBLATT
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Early Stage ◽  
Age At Onset ◽  
Disease Onset ◽  
Signs And Symptoms ◽  
Genetic Mutation ◽  
Clinically Normal ◽  
Dementing Illness ◽  
Brain And Behavior

A triplet repeat (CAG) expansion mutation in the huntingtin gene on chromosome 4 is responsible for Huntington's disease (HD). Presymptomatic genetic testing for this mutation has identified clinically normal persons who are virtually certain to develop this dementing illness if they live a normal lifespan. The present study sought to determine whether these “mutation-positive” persons have impairments in cognitive functioning. Seventy-five mutation-positive persons did not differ from 128 mutation-negative persons on tests selected for their sensitivity to early-stage HD. Interestingly, however, those with the mutation viewed themselves as more likely to develop HD than did those without the mutation. Among mutation-positive subjects, having a longer CAG repeat mutation was likewise not associated with cognitive impairment. However, being closer to estimated disease onset (a product of repeat length and parent's age at onset) was associated with selected cognitive impairments. When viewed in light of previous studies showing atrophy of the caudate nucleus and putamen in mutation-carriers who are close to onset but not those far from onset, these results suggest that subtle changes in brain and behavior may be detected shortly before subjects with the HD mutation develop sufficient signs and symptoms for diagnosis. Conceptual and methodological problems associated with the search for presymptomatic cognitive and behavioral indicators of dementing illness are discussed. (JINS, 2002, 8, 918–924.)

scholarly journals Corrigendum to “Neuropsychiatric symptoms are very common in premanifest and early stage Huntington's disease” [Parkinsonism Relat. Disord. 25C (2016) 58–64]

2016 ◽  
Vol 31 ◽  
pp. 161 ◽  
Author(s):  
Saul Martinez-Horta ◽  
Jesus Perez-Perez ◽  
Erik van Duijn ◽  
Ramon Fernandez-Bobadilla ◽  
Mar Carceller ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Early Stage ◽  
Neuropsychiatric Symptoms

Pilot Observations from a Multimodal Imaging Study of Dysphagic Patients in Early Stage Huntington'S Disease

2017 ◽  
Vol 152 (5) ◽  
pp. S928
Author(s):  
Emilia Michou ◽  
Iris Trender-Gerhard ◽  
Alexander Gerhard ◽  
David Craufurd ◽  
Karl Herholz ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Multimodal Imaging ◽  
Early Stage ◽  
Imaging Study ◽  
Dysphagic Patients

scholarly journals Decreased Metabolism in the Cerebral Cortex in Early-Stage Huntington's Disease: A Possible Biomarker of Disease Progression?

2013 ◽  
Vol 9 (1) ◽  
pp. 21 ◽  
Author(s):  
Hyeeun Shin ◽  
Man Ho Kim ◽  
Su Jin Lee ◽  
Kyung-Han Lee ◽  
Mi-Jung Kim ◽  
...  
Keyword(s):  
Cerebral Cortex ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Progression ◽  
Early Stage

Task-Set Switching Deficits in Early-Stage Huntington's Disease: Implications for Basal Ganglia Function

2003 ◽  
Vol 15 (5) ◽  
pp. 629-642 ◽  
Author(s):  
Adam R. Aron ◽  
Laura Watkins ◽  
Barbara J. Sahakian ◽  
Stephen Monsell ◽  
Roger A. Barker ◽  
...  
Keyword(s):  
Executive Function ◽  
Basal Ganglia ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Frontal Lobe ◽  
Task Switching ◽  
Early Stage ◽  
Button Press ◽  
Task Set ◽  
Basal Ganglia Structures

Executive functions are likely mediated by interconnected circuits including frontal lobe and basal ganglia structures. We assessed the executive function of task switching in patients with early-stage Huntington's disease (HD), a neurodegenerative disease affecting the basal ganglia. In two experiments, the HD patients had greater difficulty when switching than when repeating a task than matched controls, and this was true even when scaling for the overall slowing of the patients. In the first experiment, HD patients had a switching deficit even in a “pure” condition where they had to switch, predictably, and with substantial preparation time, between stimuli having only one possible response, indicating a switching deficit different from that for patients with Parkinson's disease or frontal lobe trauma, and possibly relating to inadequate activation of stimulus-response links or “response set.” In the more elaborate second experiment, we could not account for the switching deficit of the patients in terms of inadequate preparation in advance of a switch, deficient suppression of taskset processing from the preswitch trial, or impaired suppression of interference due to the presence of a competing task set. Instead, we found that part of the switching deficit was due to elevated reaction time and errors on switch trials for a repeated response (same button press as on preswitch trial) relative to an alternated response (different button press from preswitch trial). We argue that this elevated “repetition effect” for the HD patients is due to excessive inhibition of the justperformed response in advance of a switch. Alterations in the “response-setting” process alone (Experiment 1) and both the response-setting and “response inhibition” process (Experiment 2) probably arise from striatal pathology in HD, thus accounting for the task-switching deficits and showing how basal ganglia implemented response processes may underpin executive function.

Cortical atrophic-hypometabolic dissociation in the transition from premanifest to early-stage Huntington’s disease

2019 ◽  
Vol 46 (5) ◽  
pp. 1111-1116
Author(s):  
Frederic Sampedro ◽  
Saul Martínez-Horta ◽  
Jesús Perez-Perez ◽  
Andrea Horta-Barba ◽  
Diego Alfonso Lopez-Mora ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Early Stage
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