Huntington's disease gene expansion associates with early onset nonprogressive chorea

2013 ◽  
Vol 28 (5) ◽  
pp. 684-684
Author(s):  
Laura Dosa ◽  
Alessandro Malandrini ◽  
Ilaria Di Donato ◽  
Uros Hladnik ◽  
Ilaria Meloni ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Early Onset ◽  
Disease Gene ◽  
Gene Expansion

scholarly journals Intellectual curiosity and action initiation are subtypes of apathy affected in Huntington’s disease gene expansion carriers

2021 ◽  
Vol 17 (S6) ◽  
Author(s):  
Rebecca Kjærgaard Hendel ◽  
Marie Nathalie Nickelsen Hellem ◽  
Lena Elisabeth Hjermind ◽  
Jørgen Erik Nielsen ◽  
Asmus Vogel
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene ◽  
Intellectual Curiosity ◽  
Gene Expansion ◽  
Action Initiation

scholarly journals Huntington’s Disease Gene Expansion Carriers Are Aware of Their Degree of Apathy

2018 ◽  
Vol 30 (3) ◽  
pp. 183-187 ◽  
Author(s):  
Verena Baake ◽  
Erik van Duijn ◽  
Raymund A.C. Roos
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene ◽  
Gene Expansion

G05 Cognitive Impairment And Psychiatric Symptoms In A Danish Cohort Of Huntington's Disease Gene-expansion Carriers

2014 ◽  
Vol 85 (Suppl 1) ◽  
pp. A51-A51
Author(s):  
T. Vinther-Jensen ◽  
I. Unmack Larsen ◽  
T. Tolstrup Nielsen ◽  
E. Budtz-Jorgensen ◽  
L. Hjermind ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene ◽  
Psychiatric Symptoms ◽  
Gene Expansion ◽  
Danish Cohort

scholarly journals Gut dysbiosis in Huntington’s disease: associations among gut microbiota, cognitive performance and clinical outcomes

2020 ◽  
Vol 2 (2) ◽  
Author(s):  
Cory I Wasser ◽  
Emily-Clare Mercieca ◽  
Geraldine Kong ◽  
Anthony J Hannan ◽  
Sonja J McKeown ◽  
...  
Keyword(s):  
Gut Microbiota ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Progression ◽  
Cognitive Performance ◽  
Gut Microbiome ◽  
Disease Gene ◽  
Healthy Controls ◽  
Gut Dysbiosis ◽  
Gene Expansion

Abstract Huntington’s disease is characterized by a triad of motor, cognitive and psychiatric impairments, as well as unintended weight loss. Although much of the research has focused on cognitive, motor and psychiatric symptoms, the extent of peripheral pathology and the relationship between these factors, and the core symptoms of Huntington’s disease, are relatively unknown. Gut microbiota are key modulators of communication between the brain and gut, and alterations in microbiota composition (dysbiosis) can negatively affect cognition, behaviour and affective function, and may be implicated in disease progression. Furthermore, gut dysbiosis was recently reported in Huntington’s disease transgenic mice. Our main objective was to characterize the gut microbiome in people with Huntington’s disease and determine whether the composition of gut microbiota are significantly related to clinical indicators of disease progression. We compared 42 Huntington’s disease gene expansion carriers, including 19 people who were diagnosed with Huntington’s disease (Total Functional Capacity > 6) and 23 in the premanifest stage, with 36 age- and gender-matched healthy controls. Participants were characterized clinically using a battery of cognitive tests and using results from 16S V3 to V4 rRNA sequencing of faecal samples to characterize the gut microbiome. For gut microbiome measures, we found significant differences in the microbial communities (beta diversity) based on unweighted UniFrac distance (P = 0.001), as well as significantly lower alpha diversity (species richness and evenness) between our combined Huntington’s disease gene expansion carrier group and healthy controls (P = 0.001). We also found major shifts in the microbial community structure at Phylum and Family levels, and identified functional pathways and enzymes affected in our Huntington’s disease gene expansion carrier group. Within the Huntington’s disease gene expansion carrier group, we also discovered associations among gut bacteria, cognitive performance and clinical outcomes. Overall, our findings suggest an altered gut microbiome in Huntington’s disease gene expansion carriers. These results highlight the importance of gut biomarkers and raise interesting questions regarding the role of the gut in Huntington’s disease, and whether it may be a potential target for future therapeutic intervention.

scholarly journals Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely.

1991 ◽  
Vol 28 (8) ◽  
pp. 520-522 ◽  
Author(s):  
L Barron ◽  
A Curtis ◽  
A E Shrimpton ◽  
S Holloway ◽  
H May ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene
Sign in / Sign up

Export Citation Format

Share Document