ArticlesMolecular analysis and clinical correlations of the Huntington's disease mutation
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2022, International Journal of Biological MacromoleculesCitation Excerpt :A trinucleotide repeat CAG expansion (which is translated to a homopolymeric glutamine tract in the encoded protein) over a particular threshold in the huntingtin gene (HTT) coding for the huntingtin protein (HTT) is linked to the Huntington's disease (HD, OMIM 143100), which is one of more than 50 human diseases caused by the expanded short tandem repeats [206–208]. Although non-expanded HTT gene possessing 5–35 CAG repeats is not pathogenic, the expanded HTT gene containing 36 + repeats is associated with a significantly increased risk of developing HD [209], where the age of disease onset is largely determined by the length of the CAG tract [210–212]. Despite the fact that the non-expanded HTT gene codes for the mostly non-aggregating HTT protein, the protein with extended polyQ tract is characterized by enhanced aggregation propensity and altered biological activities [213–218].
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2021, Principles and Practice of Movement DisordersHuntington’s disease: Clinical features, disease mechanisms, and management
2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 2Huntington Disease
2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth EditionMolecular biology of Huntington's disease
2011, Handbook of Clinical NeurologyCitation Excerpt :Since onset of symptoms typically occurs after childbearing years, HD gene carriers can unknowingly pass the gene to their children. However, with the advent of gene testing (MacMillan et al., 1993), patients with a family history of the disease can test for the presence of the mutated copy of the disease gene. Yet, gene testing for a disease which has no effective treatments is fraught with ethical and emotional implications, particularly for those alleles within the intermediate range (reviewed in Williams and Schutte, 2000; Semaka et al., 2006).