Walterfang, Mark; Looi, Jeffrey; Styner, Martin; Walker, Ruth H; Danek, Adrian; Niethammer, Marc; Evans, Andrew; Kotschet, Katya; Rodrigues, Guilherme R; Hughes, Andrew; Velakoulis, Dennis
Chorea-acanthocytosis (ChAc) is an uncommon autosomal recessive disorder due to mutations of the VPS13A gene, which encodes for the membrane protein chorein. ChAc presents with progressive limb and orobuccal chorea, but there is often a marked dysexecutive syndrome. ChAc may first present with neuropsychiatric disturbance such as obsessive-compulsive disorder (OCD), suggesting a particular role for disruption to striatal structures involved in non-motor frontostriatal loops, such as the head of...[Show more]
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