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

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.

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

Danville Airlines

2004 ◽  
pp. 1-7
Author(s):  
Jenny Mead ◽  
Andrew C. Wicks
Keyword(s):  
Genetic Testing ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Public Safety ◽  
Employee Rights ◽  
Step Down

This case presents the dilemma faced by Danville Airlines’ management when one of its best pilots is found to have the inherited gene for Huntington’s disease. Although he inevitably will develop the physically and mentally debilitating disease, the pilot, who has yet to experience symptoms, does not want to step down from his position. Danville Airlines explores the complicated issues of employee rights versus public safety, employee rights to privacy, and genetic testing and its effects on employees and management.

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