Anorectal Dysfunction in Presymptomatic Mutation Carriers and Patients with Huntington’s Disease

2018 ◽  
Vol 7 (3) ◽  
pp. 259-267 ◽  
Author(s):  
Jan Kobal ◽  
Kolenc Matej ◽  
Matic Koželj ◽  
Simon Podnar
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Anorectal Dysfunction ◽  
Mutation Carriers

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 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

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

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.

scholarly journals Evaluation of Blood Glial Fibrillary Acidic Protein as a Potential Marker in Huntington's Disease

2021 ◽  
Vol 12 ◽  
Author(s):  
Huajing You ◽  
Tengteng Wu ◽  
Gang Du ◽  
Yue Huang ◽  
Yixuan Zeng ◽  
...  
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Burden ◽  
Rating Scale ◽  
Word Reading ◽  
Acidic Protein ◽  
Clinical Severity ◽  
Healthy Controls ◽  
Mutation Carriers

Objective: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. Neurofilament light protein (NfL) is correlated with clinical severity of HD but relative data are the lack in the Chinese population. Reactive astrocytes are related to HD pathology, which predicts their potential to be a biomarker in HD progression. Our aim was to discuss the role of blood glial fibrillary acidic protein (GFAP) to evaluate clinical severity in patients with HD.Methods: Fifty-seven HD mutation carriers (15 premanifest HD, preHD, and 42 manifest HD) and 26 healthy controls were recruited. Demographic data and clinical severity assessed with the internationally Unified Huntington's Disease Rating Scale (UHDRS) were retrospectively analyzed. Plasma NfL and GFAP were quantified with an ultra-sensitive single-molecule (Simoa, Norcross, GA, USA) technology. We explored their consistency and their correlation with clinical severity.Results: Compared with healthy controls, plasma NfL (p < 0.0001) and GFAP (p < 0.001) were increased in Chinese HD mutation carriers, and they were linearly correlated with each other (r = 0.612, p < 0.001). They were also significantly correlated with disease burden, Total Motor Score (TMS) and Total Functional Capacity (TFC). The scores of Stroop word reading, symbol digit modalities tests, and short version of the Problem Behaviors Assessments (PBAs) for HD were correlated with plasma NfL but not GFAP. Compared with healthy controls, plasma NfL has been increased since stage 1 but plasma GFAP began to increase statistically in stage 2.Conclusions: Plasma GFAP was correlated with plasma NfL, disease burden, TMS, and TFC in HD mutation carriers. Plasma GFAP may have potential to be a sensitive biomarker for evaluating HD progression.

scholarly journals Irritability in a Prospective Cohort of Huntington’s Disease Mutation Carriers

2015 ◽  
Vol 27 (3) ◽  
pp. 206-212 ◽  
Author(s):  
Joseph A. Bouwens ◽  
Erik van Duijn ◽  
Roos C. van der Mast ◽  
Raymund A. C. Roos ◽  
Erik J. Giltay
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Prospective Cohort ◽  
Disease Mutation ◽  
Mutation Carriers
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