Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at‐risk observational study (PHAROS)

• Published in: Clinical genetics Vol. 91; no. 6; pp. 824 - 831
• Main Authors: Quaid, K.A., Eberly, S.W., Kayson‐Rubin, E., Oakes, D., Shoulson, I.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.06.2017
• Subjects: Adenine; Adult; Chorea; Cytosine; Emotional behavior; Female; Genetic Predisposition to Disease; Genetic screening; Genetic Testing; Genotype; Guanine; Humans; Huntingtin; Huntingtin Protein - genetics; Huntington disease; Huntington Disease - diagnosis; Huntington Disease - genetics; Huntington Disease - pathology; Huntington's disease; Huntingtons disease; Male; Mental depression; Middle Aged; Motor task performance; Neurodegenerative diseases; Observational studies; observational trial; Polyglutamine; Risk Factors; Social interactions; Trinucleotide repeat diseases; Trinucleotide Repeat Expansion - genetics; Trinucleotide repeats; Trinucleotide Repeats - genetics; observational trial; genetic testing; Huntington disease

Huntington disease (HD) is a late onset ultimately fatal neurodegenerative disorder caused by a cytosine–adenine–guanine ( CAG) triplet repeat expansion in the Huntingtin gene which was discovered in 1993. The PHAROS study is a unique observational study of 1001 individuals at risk for HD who had no...