Chorea

Abstract

PURPOSE OF REVIEW This article provides an overview of the approach to chorea in clinical practice, beginning with a discussion of the phenomenologic features of chorea and how to differentiate it from other movement disorders. The diagnostic approach, clinical features of important acquired and genetic choreas, and therapeutic principles are also discussed. Practical clinical points and caveats are included. RECENT FINDINGS C9orf72 disease is the most common Huntington disease phenocopy, according to studies in the European population. Anti-IgLON5 disease can present with chorea. The role of immunotherapies in Sydenham chorea has increased, and further clinical studies may be useful. Benign hereditary chorea is a syndrome or phenotype due to mutations in several genes, including NKX2-1, ADCY5, GNAO1, and PDE10A. New-generation presynaptic dopamine-depleting agents provide more options for symptomatic treatment of chorea with fewer adverse effects. Deep brain stimulation has been performed in several choreic disorders, but features other than chorea and the neurodegenerative nature should be taken into consideration. Studies on genetic interventions for Huntington disease are ongoing. SUMMARY Clinical features remain crucial in guiding the differential diagnosis and appropriate investigations in chorea. Given the complexity of most choreic disorders, treating only the chorea is not sufficient. A comprehensive and multidisciplinary approach is required.

One Side of the Story; Clues to Etiology in Patients with Asymmetric Chorea

“…Chorea is a hyperkinetic movement disorder described as random, flowing, and dancelike [ 1 ]. In many conditions chorea is generalized, involving the entire body, however, in a significant number of situations, the movement disorder can be strikingly asymmetric or even unilateral.…”

“…While unilateral involvement is classically related to a contralateral structural lesion, e.g. of the putamen or the subthalamic nucleus, with stroke as the most common etiology, systemic disease can also lead to a unilateral or markedly asymmetric presentations [ 1 ]. In particular, hyperglycemic hemichorea/hemiballismus is typically described as being unilateral with transient T1 hyper intensity of the contralateral putamen on magnetic resonance imaging [ 2 3 4 5 ].…”

“…In contrast, in the genetic choreas the movement disorder is typically midline or symmetric in presentation, although sometimes with a particular anatomic predilection. In particular, Huntington’s disease, the most common cause of genetic chorea, is one of the few disorders specifically noted to have forehead chorea as a potentially diagnostic characteristic [ 1 ]. In other disorders, such as in patients with hexanucleotide repeat expansions in C9ORF72 with chorea or chorea-acanthocytosis, there is involvement predominantly of the lower face and tongue [ 9 10 ].…”

Clinical Reasoning: A 55-Year-Old Man With Odd Behavior and Abnormal Movements

“…Neuropathy, myopathy, cardiomyopathy, seizures, and parkinsonism may also occur. 1 Core subsets of neuroacanthocytosis include the autosomal recessive chorea-acanthocytosis (ChAc) caused by mutations in the VPS113A gene and the X-linked Mcleod syndrome (MLS) caused by mutations in the XK gene encoding the Kell antigen on erythrocytes. ChAc has a mean age of onset of 35 years and tends to be associated with severe feeding dystonia and subsequent weight loss, difficulties with saccades, a "rubber man" posture and gait, and atrophy of the caudate nucleus.…”

Neurological Manifestations of Wilson's Disease: Pathophysiology and Localization of Each Component

“…The term choreoathetosis is used when typical choreic movements coexist with athetosis. It seems that the basal ganglia are the main structures involved in its pathophysiology [24,25].…”