Continuum (Minneapolis, Minn.) · 2025
Huntington Disease and Chorea.
СтатьяОбзорКлинический случайНазвание и аннотация: Перевод в очереди
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Moore Kathryn P L
Аннотация
OBJECTIVE: This article presents a systematic approach to the diagnosis and management of choreiform disorders, focusing on Huntington disease (HD) as a model.
LATEST DEVELOPMENTS: The availability of genetic testing and imaging biomarkers has led to changes in the definition of HD, which has shifted toward pathologic instead of clinical markers. A third vesicular monoamine transporter 2 inhibitor, valbenazine, is available for the management of chorea in HD. There has been an ongoing focus targeting the early neurodegenerative process in the development of disease-modifying strategies across the spectrum of HD pathophysiology. Approaches include antisense oligonucleotides and micro-RNA, which aim to treat by lowering the abnormal huntingtin protein.
ESSENTIAL POINTS: Chorea is a hyperkinetic movement occurring in a variety of conditions in both children and adults. This article reviews the identification of chorea and the diagnostic approach to genetic and acquired forms, with a focus on the genetics, presentation, and treatment of HD. The author discusses the diverse landscape of choreiform disorders.
LATEST DEVELOPMENTS: The availability of genetic testing and imaging biomarkers has led to changes in the definition of HD, which has shifted toward pathologic instead of clinical markers. A third vesicular monoamine transporter 2 inhibitor, valbenazine, is available for the management of chorea in HD. There has been an ongoing focus targeting the early neurodegenerative process in the development of disease-modifying strategies across the spectrum of HD pathophysiology. Approaches include antisense oligonucleotides and micro-RNA, which aim to treat by lowering the abnormal huntingtin protein.
ESSENTIAL POINTS: Chorea is a hyperkinetic movement occurring in a variety of conditions in both children and adults. This article reviews the identification of chorea and the diagnostic approach to genetic and acquired forms, with a focus on the genetics, presentation, and treatment of HD. The author discusses the diverse landscape of choreiform disorders.