No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease

2006 ◽  
Vol 24 (2) ◽  
pp. 274-279 ◽  
Author(s):  
Emilio Di Maria ◽  
Antonella Marasco ◽  
Marzia Tartari ◽  
Paola Ciotti ◽  
Giovanni Abbruzzese ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Age At Onset ◽  
Gene Variants ◽  
Bdnf Gene

scholarly journals The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington’s Disease: A Historical Perspective

2021 ◽  
Vol 10 (1) ◽  
pp. 7-33
Author(s):  
Darren G. Monckton
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Human Genetics ◽  
Age At Onset ◽  
Cag Repeat ◽  
Model Systems ◽  
Causative Mutation ◽  
Inverse Association ◽  
Independent Manner ◽  
Dna Mismatch

The discovery in the early 1990s of the expansion of unstable simple sequence repeats as the causative mutation for a number of inherited human disorders, including Huntington’s disease (HD), opened up a new era of human genetics and provided explanations for some old problems. In particular, an inverse association between the number of repeats inherited and age at onset, and unprecedented levels of germline instability, biased toward further expansion, provided an explanation for the wide symptomatic variability and anticipation observed in HD and many of these disorders. The repeats were also revealed to be somatically unstable in a process that is expansion-biased, age-dependent and tissue-specific, features that are now increasingly recognised as contributory to the age-dependence, progressive nature and tissue specificity of the symptoms of HD, and at least some related disorders. With much of the data deriving from affected individuals, and model systems, somatic expansions have been revealed to arise in a cell division-independent manner in critical target tissues via a mechanism involving key components of the DNA mismatch repair pathway. These insights have opened new approaches to thinking about how the disease could be treated by suppressing somatic expansion and revealed novel protein targets for intervention. Exciting times lie ahead in turning these insights into novel therapies for HD and related disorders.

A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease

2009 ◽  
Vol 35 (3) ◽  
pp. 474-476 ◽  
Author(s):  
Claire-Marie Dhaenens ◽  
Sylvie Burnouf ◽  
Clémence Simonin ◽  
Edwige Van Brussel ◽  
Alain Duhamel ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Age At Onset

scholarly journals Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

2008 ◽  
Vol 17 (8) ◽  
pp. 1137-1146 ◽  
Author(s):  
S. Metzger ◽  
J. Rong ◽  
H.-P. Nguyen ◽  
A. Cape ◽  
J. Tomiuk ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Age At Onset

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.)

Association between caffeine intake and age at onset in Huntington's disease

2013 ◽  
Vol 58 ◽  
pp. 179-182 ◽  
Author(s):  
Clémence Simonin ◽  
Cécile Duru ◽  
Julia Salleron ◽  
Pascale Hincker ◽  
Perrine Charles ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Age At Onset ◽  
Caffeine Intake

scholarly journals Duration of illness in Huntington's disease is not related to age at onset.

1993 ◽  
Vol 56 (1) ◽  
pp. 98-100 ◽  
Author(s):  
R A Roos ◽  
J Hermans ◽  
M Vegter-van der Vlis ◽  
G J van Ommen ◽  
G W Bruyn
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Age At Onset ◽  
Duration Of Illness
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