scholarly journals Risk perception before and after presymptomatic genetic testing for Huntington's disease: Not always what one might expect

2018 ◽  
Vol 6 (6) ◽  
pp. 1140-1147
Author(s):  
Kelsey Stuttgen ◽  
Rachel Dvoskin ◽  
Juli Bollinger ◽  
Allison McCague ◽  
Barnett Shpritz ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Risk Perception ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Before And After ◽  
Presymptomatic Genetic Testing

scholarly journals Antidopaminergic treatment is associated with reduced chorea and irritability but impaired cognition in Huntington’s disease (Enroll-HD)

2020 ◽  
Vol 91 (6) ◽  
pp. 622-630
Author(s):  
Kate L Harris ◽  
Wei-Li Kuan ◽  
Sarah L Mason ◽  
Roger A Barker
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Case Reports ◽  
Controlled Trial ◽  
Rate Of Change ◽  
Control Group ◽  
Open Label ◽  
Double Blind ◽  
Before And After ◽  
Rate Of Decline

ObjectivesAlterations in dopamine neurotransmission underlie some of the clinical features of Huntington’s disease (HD) and as such are a target for therapeutic intervention, especially for the treatment of chorea and some behavioural problems. However, justification for such an intervention is mainly based on case reports and small open label studies and the effects these drugs have on cognition in HD remain unclear.MethodsIn this study, we used the Enroll-HD observational database to assess the effects of antidopaminergic medication on motor, psychiatric and cognitive decline, over a 3-year period. We first looked at the annual rate of decline of a group of HD patients taking antidopaminergic medication (n=466) compared with an untreated matched group (n=466). The groups were matched on specified clinical variables using propensity score matching. Next, we studied a separate group of HD patients who were prescribed such medications part way through the study (n=90) and compared their rate of change before and after the drugs were introduced and compared this to a matched control group.ResultsWe found that HD patients taking antidopaminergic medication had a slower progression in chorea and irritability compared with those not taking such medications. However, this same group of patients also displayed significantly greater rate of decline in a range of cognitive tasks.ConclusionIn conclusion we found that antidopaminergic treatment is associated with improvements in the choreic movements and irritability of HD but worsens cognition. However, further research is required to prospectively investigate this and whether these are causally linked, ideally in a double-blind placebo-controlled trial.

scholarly journals Diagnostic genetic testing for Huntington's disease

2014 ◽  
Vol 15 (1) ◽  
pp. 80-84 ◽  
Author(s):  
David Craufurd ◽  
Rhona MacLeod ◽  
Marina Frontali ◽  
Oliver Quarrell ◽  
Emilia K Bijlsma ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Diagnostic Genetic Testing

“She Is So Fidgety”

2016 ◽  
Author(s):  
Robertus M. A. de Bie ◽  
Susanne E. M. Ten Holter
Keyword(s):  
Physical Activity ◽  
Genetic Testing ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Mental Activity ◽  
Adult Onset ◽  
Involuntary Movements ◽  
Writing Movements

Chorea manifests as involuntary, often contnuous, unpredictable, and involuntary dance-like movements. Patients with chorea are often unaware that they have involuntary movements. Others may try to incorporate the movement into a semipurposeful action (parakinesia). Chorea is usually worse with mental activity or emotion. Physical activity may also exacerbate chorea. The presence of “motor impersistence” is typical of chorea. Sometimes patients can also make unintentional sounds referred to as hyperkinetic dysarthria. Chorea disappears during sleep. Ballism is considered a type of chorea with a more proximal distribution and larger movements. Athetosis is a term formally used for chorea with slow writing movements in the distal limbs, but it is not considered a specific entity of chorea anymore. The most important genetic cause of chorea in adulthood is Huntington’s disease, and genetic testing should be considered as a first step in all patients with adult-onset chorea if no secondary cause is found.

Huntington's disease confirmed by genetic testing in five african families

1998 ◽  
Vol 13 (4) ◽  
pp. 726-730 ◽  
Author(s):  
E. Silber ◽  
J. Kromberg ◽  
J. A. Temlett ◽  
A. Krause ◽  
D. Saffer
Keyword(s):  
Genetic Testing ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
African Families

Predictors of psychological adjustment to genetic testing for Huntington's disease.

1997 ◽  
Vol 16 (1) ◽  
pp. 36-50 ◽  
Author(s):  
Ann-Marie Codori ◽  
Phillip R. Slavney ◽  
Candace Young ◽  
Diana L. Miglioretti ◽  
Jason Brandt
Keyword(s):  
Genetic Testing ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Psychological Adjustment

scholarly journals Prenatal and Preimplantation Genetic Diagnosis of Huntington's Disease

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Joep P.M. Geraedts ◽  
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Preimplantation Genetic Testing ◽  
Dominant Disease ◽  
Pros And Cons ◽  
Disease Free

Huntington’s disease (HD) is an autosomal dominant disease that immensely impacts the affected families. However, the transmission of the disease from carriers to their offspring could be prevented. Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are the only two available reproductive options for the carriers at risk to have disease-free children. PND for HD could be done through two kinds of genetic testing: direct and indirect. The same approaches are available for preimplantation genetic testing. In addition, a third alternative is nondisclosure testing, which is only available in the case of PGD. The pros and cons of different approaches are discussed. However, only a relatively few at-risk parents opt for PND and PGD. Furthermore, compared to PND, PGD is even more seldom opted for as a reproductive option.

scholarly journals Predictive genetic testing in Huntington’s disease: should a neurologist be involved?

2020 ◽  
Vol 28 (9) ◽  
pp. 1205-1209
Author(s):  
Mayke Oosterloo ◽  
Emilia K. Bijlsma ◽  
Corien C. Verschuuren-Bemelmans ◽  
Meyke I. Schouten ◽  
Christine de Die-Smulders ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Predictive Genetic Testing
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