Objective: To investigate and characterize the different causes of chorea in our cohort of patients and to compare phenotypically those with a positive and negative genetic test for Huntington Disease.

Background: Differential diagnosis of chorea is broad and often entails a challenge in the clinical practice of neurologists. Among the hereditary choreas, Huntington’s disease (HD) is the most common but many other causes have been described in the literature. Clinical features remain crucial in guiding the differential diagnosis and appropriate investigations in chorea.

Method: We collected clinical information from 133 cases with chorea seen in our movement disorders unit at Fundación Jiménez Díaz Hospital in Madrid from 2015 to 2020. Their clinical records including demographic, phenotype-genotype and complimentary assessments were retrospectively reviewed.

Results: Of the 133 patients (p), 110 had a genetic diagnosis of HD (HD+) and 23 patients were negative for HD genetic testing (HD-). In the HD+ group: 56 were male and 54 female. Mean age at symptoms onset was 44.56 years ± 13.60 and the duration of the disease was 6.36 years ± 5.57. Most common associated symptoms: Parkinsonism 47% (72p), Cognitive Impairment 37%, (57p), dystonia 12% (18p) and tremor 4% (7p). In the HD- group: 4 were men and 19 women. Mean age at onset was 64.57 years ± 18.02 and the duration of the disease was 5.96 years ± 4.12. Associated symptoms were only seen in 9p (39%): cognitive impairment in 4p, parkinsonism in 3p, dystonia in 3p and limb tremor in 2p. The aetiology of chorea was variable in this group: 6p were autoimmune (4p systemic lupus erythematosus, 2 of them combined with antiphospholipid syndrome, 1p Sydenham chorea and 1p adult PANDAS); 2p had myelodysplastic syndromes; 4p were secondary to the use of neuroleptic drugs; 2p cerebral palsy; 2p senile chorea, 1p had a functional chorea and 2p are still undiagnosed. The treatment of choice was amantadine followed by tetrabenacin.

Conclusion: Huntington Disease is the most frequent cause of genetic chorea. Our patients with chorea and HD- were more frequently female, significantly older and had less frequently other associated symptoms. Autoimmune disease was the most frequent cause and Amantadine the treatment of choice.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/chorea-a-case-series/