Adult-onset sporadic chorea: real-world data from a single-centre retrospective study

Abstract

Background Adult-onset sporadic chorea includes a wide and heterogeneous group of conditions whose differential diagnosis and treatments are often challenging and extensive. Objectives To analyse retrospectively cases of adult-onset sporadic chorea from a single Italian centre to provide insights for a practical approach in the management of these patients. Methods A total of 11,071 medical charts from a 9-year period (2012–2020) were reviewed, identifying 28 patients with adult-onset sporadic chorea (genetic forms excluded). All available data regarding phenomenology, diagnostic workup, aetiology, treatments, and long-term outcome from this cohort were collected and analysed. Results Adult-onset sporadic chorea occurred more frequently in females and presented with an acute-subacute onset. Cerebrovascular diseases accounted for 68% of aetiology; further causes were structural brain lesions, internal diseases, and other movement disorder syndromes. Clinical course was mild, with spontaneous resolution or minimal disturbances in 82% of cases. Neuroimaging was fundamental to diagnose 76% of adult-onset sporadic chorea, an appropriate clinical examination contributed to the 14% of diagnoses, whereas basic laboratory tests to the 10%. Conclusions Revision of real-world data of adult-onset sporadic chorea patients from a single Italian cohort suggests that an accurate clinical examination, neuroimaging, and routine laboratory tests are useful to identify those cases underlying potentially severe but treatable conditions. Although in the majority of cases adult-onset sporadic chorea has mild clinical course and good response to symptomatic treatments, it is essential to run a fast diagnostic workup.

Global Epidemiology of Movement Disorders: Rare or Underdiagnosed?

“…123 The incidence and prevalence of chorea associated with specific disorders has been well established, such as in Huntington's disease (HD), but the prevalence of secondary chorea from other possible etiologies has also been studied, though to a lesser extent. 124 Huntington's Disease HD is a rare autosomal dominant genetic neurodegenerative disorder associated with expanded trinucleotide CAG repeats in the HTT gene. Individuals affected by HD present with cognitive and psychiatric symptoms, as well as prominent choreiform movements, although dystonia and parkinsonism can be seen depending upon stage of disease and age at presentation.…”

“…123 The incidence and prevalence of chorea associated with specific disorders has been well established, such as in Huntington's disease (HD), but the prevalence of secondary chorea from other possible etiologies has also been studied, though to a lesser extent. 124…”

Diagnostic Uncertainties: Chorea

“…The most common cause of acquired chorea is acute stroke, 4 5 although as a stroke symptom it is relatively rare. 6 7 8 The presentation is generally an acute onset hemichorea/hemiballismus (HC/HB) with imaging findings of infarct in the contralateral basal ganglia, 4 5 although there can be considerable variability in the anatomic location. The onset of chorea may be delayed or present subacutely.…”

“…7,9,10 Despite this variability, network mapping of stroke-induced chorea appears to overlap at the posterolateral putamen, suggesting a shared functional localization that is disrupted in most cases. 11 In the absence of infarct, vascular chorea appears to be a potential consequence of chronically disrupted perfusion, such as with sub-occlusive carotid stenosis -perhaps a variation of the "limb-shaking TIA" phenomenon, 5 moyamoya, 12 or vasculitis, 7 although whether this is related to the changes in perfusion, inflammation or direct toxicity of autoimmune antibodies is not well established 13 .…”

Unilateral upper limb chorea associated with hyperthyroidism: A case report and literature review

“…Chorea is commonly described in patients with Huntington's disease (HD) ( 2 ), hyperglycemia ( 3 ), autoimmune thyroid disease, drug toxication ( 4 ), etc. ( 5 ). However, chorea is a rare complication of hyperthyroidism, with <2% of chorea cases occurring in patients with Grave's disease ( 6 ).…”