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1.
Predictive genetic testing of adolescents for Huntington disease: a question of autonomy and harm.
Richards, Fiona H.
Am J Med Genet A ; 146A(18): 2443-6; author reply 2447-8, 2008 Sep 15.
Article in English | MEDLINE | ID: mdl-18698623

Subject(s)
Genetic Testing/ethics , Genetic Testing/psychology , Huntington Disease/diagnosis , Personal Autonomy , Adolescent , Humans , Huntington Disease/genetics , Huntington Disease/psychology
2.
Juvenile Huntington disease.
Geevasinga, Nimeshan; Richards, Fiona H; Jones, Kristi J; Ryan, Monique M.
J Paediatr Child Health ; 42(9): 552-4, 2006 Sep.
Article in English | MEDLINE | ID: mdl-16925544

ABSTRACT

Huntington disease (HD) is a dominantly inherited neurodegenerative disorder related to expansion of a triplet repeat sequence in the huntington gene on chromosome 4. Adult HD usually presents with chorea and personality changes. Juvenile HD is far less common and presents with parkinsonism, dystonia and seizures. We report a case of juvenile HD, showing extreme anticipation, in which diagnosis was delayed because of failure to recognise the significance of the family history and the characteristic clinical and radiologic features of this condition.


Subject(s)
Diagnostic Errors , Huntington Disease/diagnosis , Age of Onset , Child , Disease Progression , Humans , Huntington Disease/genetics , Magnetic Resonance Imaging , Male , Polymorphism, Genetic
3.
Predictive genetic testing in children.
Richards, Fiona H; Tassicker, Roslyn J; Kromberg, Jennifer G R; Singaram, Barbara M.
Med J Aust ; 176(10): 507, 2002 May 20.
Article in English | MEDLINE | ID: mdl-12065022

Subject(s)
Genetic Diseases, Inborn/diagnosis , Genetic Testing/psychology , Informed Consent , Mental Competency , Adolescent , Australia , Child , Humans
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