Objective: To present a case of a chorea-Acanthocytosis patient genetically confirmed within a recognized consanguineous family, yet displaying a distinct mutation within the VPS13A gene.

Background: Chorea-Acanthocytosis (ChAc )is a rare, genetically inherited neurodegenerative, caused by mutations in the VPS13A gene, more than 75 different mutations in this gene have been linked to this condition, and many of these mutations are linked to a single family.

Method: A video recording of the examination in the case report.

Results: A 25-year-old male initially seeking attention for asymptomatic elevated muscle enzymes exhibited clinical signs including hypertrophic calves and reduced lower limb reflexes, with investigations indicating mild myopathic features through elevated serum creatine kinase (CK) levels and electromyography (EMG) results. Progressively, he developed swallowing difficulties, orolingual dystonia, chorea, motor tics, and tongue-biting episodes, MRI brain was normal. Further disclosure of consanguineous family background with chorea-acanthocytosis led to additional scrutiny. While his sister showed clinical signs of ChAc with acanthocytes present in her blood film but lacked genetic testing, his cousin was diagnosed with ChAc through clinical observations, acanthocytosis in the blood, absence of chorein on Western blot, and a c.1549G>T (p.Glu517*) mutation in the VPS13A gene. Contrarily, the patient was found to have a novel homozygous mutation, c.3900C>A (p.Cys1300), in the VPS13A gene crucial for chorein synthesis, confirming ChAc diagnosis. Severe reading dystonia necessitated the insertion of a Percutaneous Gastric tube for feeding, underscoring the complex and evolving clinical presentation of ChAc within this family.

Conclusion: Chorea-acanthocytosis (ChAc) is a rare neurodegenerative disorder marked by the presence of acanthocytes in the blood smear, basal ganglia neurodegeneration. Clinical symptoms include chorea, lingual dyskinesia, seizures, and cognitive issues. Caused by mutations in the VPS13A gene, impacting chorein production. The identification of disparate VPS13A mutations within a consanguineous one family presents a unique case study highlighting the intricate genetic heterogeneity at play in familial neurodegenerative disorders.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genetic-heterogeneity-in-chorea-acanthocytosis-revealed-by-varying-vps13a-mutations-within-a-consanguineous-family/