Objective: To emphasize the importance of a thorough serum evaluation and genetic testing for new onset chorea to avoid delays in diagnosis of chorea acanthocytosis.

Background: Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder caused by a mutation in the encoding gene of the protein chorein, VPS13A. ChAc typically presents in young adulthood with movement disorders including chorea, oral-lingual dystonia, repetitive tongue protrusions (“feeding dystonias”), atypical ambulatory pattern described as a “rubber man gait,” tics, and parkinsonism. Lab findings include elevated creatinine kinase and multiple acanthocytes in peripheral blood smear. Imaging findings may demonstrate caudate head atrophy.

Method: Case report

Results: A 31 year old female presented with a four year history of progressive abnormal tongue and jaw movements and difficulty speaking. Her tongue “thrusts” lead to recurrent tongue biting and multiple oral ulcers. Initial neurological evaluation documented concern for tardive dyskinesia despite lack of typical offending agents. She underwent a carbidopa-levodopa trial without relief and intolerance of side effects. MRI brain was normal. Years later, due to worsening of her movements, she was evaluated by the inpatient neurology team and diagnosed with oromandibular dyskinesia and dystonia. She endorsed depression and suicidal ideation. The neurology team were concerned about the possibility of a functional movement disorder given her mood symptoms and her inconsistent “duck like” gait. A comprehensive serum chorea workup revealed many acanthocytes in her peripheral blood smear. Genetic testing revealed homozygous pathogenic mutations in the VPS13A gene consistent with the diagnosis of chorea-acanthocytosis.

Conclusion: This case highlights unique clinical findings associated with ChAC including feeding dystonia, a “rubber man” gait pattern, and psychiatric symptoms. The presence of psychiatric symptoms can lead to misdiagnosis of oromandibular hyperkinetic movements as due to tardive dyskinesia, and misdiagnosis of the bizarre gait to be due to a functional movement disorder. It is important to perform a thorough evaluation of new onset oromandibular hyperkinetic movements in the absence of a clear association with an anti-dopaminergic medication, and to consider early genetic testing.

References: 1. Bader B, Walker RH, Vogel M, Prosiegel M, McIntosh J, Danek A. Tongue protrusion and feeding dystonia: a hallmark of chorea-acanthocytosis. Mov Disord. 2010 Jan 15;25(1):127-9. doi: 10.1002/mds.22863. PMID: 19938148.

2. Jung HH, Danek A, Walker RH. Neuroacanthocytosis syndromes. Orphanet J Rare Dis. 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213; PMCID: PMC3212896.

3. Huang, S., Zhang, J., Tao, M. et al. Two case reports of chorea-acanthocytosis and review of literature. Eur J Med Res 27, 22 (2022). https://doi.org/10.1186/s40001-022-00646-7

« Back to 2025 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/the-importance-of-a-through-serum-evaluation-and-genetic-testing-to-avoid-delays-in-diagnosis-of-chorea-acanthocytosis-a-case-report/