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Narcolepsy is a chronic sleep disorder characterized by pervasive, uncontrolled sleepiness and other sleep disturbances. One of its hallmark symptoms is an abrupt transition to REM sleep upon falling asleep, which causes symptoms typically associated with this phase to occur unexpectedly during wakefulness. These include the following symptoms, which typically last from a minute or two to half an hour.
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Chorea.

Tiago A Mestre

    Continuum (Minneapolis, Minn.)
    |August 7, 2016
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    Summary
    This summary is machine-generated.

    Diagnosing adult chorea is complex. A detailed history is crucial, and C9orf72 gene mutations are a new consideration for neurodegenerative chorea after excluding Huntington disease.

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    Area of Science:

    • Neurology
    • Genetics
    • Clinical Medicine

    Background:

    • Chorea is a hyperkinetic movement disorder with diverse etiologies.
    • Huntington disease (HD) is a primary consideration in adult-onset chorea.
    • Differentiating chorea requires a systematic clinical approach.

    Purpose of the Study:

    • To review the clinical diagnosis of adult chorea.
    • To highlight diagnostic elements and management principles.
    • To discuss chorea in the context of neurodegenerative syndromes.

    Main Methods:

    • Clinical review of diagnostic approaches to chorea.
    • Emphasis on detailed patient history and associated findings.
    • Integration of genetic testing considerations.

    Main Results:

    • C9orf72 gene mutations are a significant cause of Huntington disease phenocopies in white populations.
    • Diagnosis of chorea is challenging due to multiple potential causes.
    • No novel disease-modifying treatments for chorea or neurodegenerative choreic syndromes exist.

    Conclusions:

    • A thorough patient history is essential for diagnosing chorea.
    • Consideration of C9orf72 gene mutations is recommended for neurodegenerative chorea, post-Huntington disease exclusion.
    • Current treatments for chorea primarily involve symptomatic management with dopamine blockers or tetrabenazine.