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Beyond CAG Repeats: The Multifaceted Role of Genetics in Huntington Disease

19 Jun 2024

Abstract excerpt

Huntington disease (HD) is a dominantly inherited neurodegenerative disorder caused by a CAG expansion on the huntingtin (HTT) gene and is characterized by progressive motor, cognitive, and neuropsychiatric decline. Recently, new genetic factors besides CAG repeats have been implicated in the disease pathogenesis. Most genetic modifiers are involved in DNA repair pathways and, as the cause of the loss of CAA...

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PMID: 38927742
DOI: 10.3390/genes15060807

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