scholarly journals Age at onset and life table risks in genetic counselling for Huntington's disease.

1992 ◽  
Vol 29 (4) ◽  
pp. 239-242 ◽  
Author(s):  
P S Harper ◽  
R G Newcombe
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Life Table ◽  
Genetic Counselling ◽  
Age At Onset

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.

Genetic counselling: a new diagnosis in the family

2020 ◽  
pp. 64-71
Author(s):  
Oliver Quarrell
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Counselling ◽  
Genetic Disorders ◽  
Medical Doctors ◽  
Genetic Tests ◽  
The Family ◽  
Close Relatives ◽  
New Diagnosis

This chapter describes the process of genetic counselling in general but with an emphasis on Huntington’s disease. The chapter discusses issues for a new diagnosis in the family and describes the challenges of telling children that they are at risk. Medical doctors often lead genetic counselling teams as they are specially trained to give information about genetic disorders and explain the implications of genetic tests. The doctor or counsellor has to understand your particular circumstances and support you in a way that allows you to make your own decisions. A diagnosis of HD has implications for you and all your close relatives.

Huntington’s disease-like 2: a phenocopy not to miss

2020 ◽  
Vol 20 (6) ◽  
pp. 479-481
Author(s):  
Daniel Sabino De Oliveira ◽  
Daniela Pereira Santos ◽  
Daniel Oliveira Araujo ◽  
Pedro José Tomaselli ◽  
WIlson Marques Júnior ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Counselling ◽  
Neurological Examination ◽  
Clinical Management ◽  
African Ancestry ◽  
Epileptic Seizures ◽  
Correct Identification ◽  
History Of ◽  
Slow Saccades

A 67-year-old Brazilian man of African ancestry and his 60-year-old sister both presented with choreiform movements, although in the man these were significantly overshadowed by additional parkinsonism. The man also had a history of four epileptic seizures. Neurological examination in each also found slow saccades and a dysexecutive syndrome. Genetic tests for Huntington’s disease were negative but were positive for Huntington’s disease-like 2. There are various genetic causes of chorea diseases, and their correct identification is important for appropriate clinical management and genetic counselling.

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
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