Distribution of the <i>HTT</i> Gene A1 and A2 Haplotypes Worldwide: A Systematic Review

Apolinário, Thays Andrade; Rodrigues, Dionatan Costa; Lemos, Mayra Braga; Paiva, Cláudia N.; Agostinho, Luciana de Andrade

doi:10.3121/cmr.2020.1523

Clin Med Res

2020

DOI: 10.3121/cmr.2020.1523

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Distribution of the HTT Gene A1 and A2 Haplotypes Worldwide: A Systematic Review

Thays Andrade Apolinário

Dionatan Costa Rodrigues

Mayra Braga Lemos

et al.

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2024

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Genetics of Huntington’s disease and related disorders: beyond triplet repeats

Burgunder

2024

Ageing Neur Dis

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Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder due to a triplet repeat expansion in the HTT gene. The identification of this gene variation was a lengthy process, but it has since provided an explanation of clinical observations including the variability in age at onset observed across generations (phenomenon of anticipation). Further molecular genetic investigations have allowed the discovery of genes modifying the phenotype presenting differences in terms of age at the onset and course of the disease. Pathogenic gene variations have also been found in other diseases with a similar presentation, such as HD, allowing precise genetic diagnosis. This narrative review examines these data in the context of their historical development. Their implication in our understanding of these disorders and treatment modalities is also highlighted.

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Genetics of Huntington’s disease and related disorders: beyond triplet repeats

Burgunder

2024

Ageing Neur Dis

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Distribution of the HTT Gene A1 and A2 Haplotypes Worldwide: A Systematic Review

Cited by 1 publication

References 40 publications

Genetics of Huntington’s disease and related disorders: beyond triplet repeats

Genetics of Huntington’s disease and related disorders: beyond triplet repeats

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