Chorea and seizures in a patient with a rare VPS13A gene mutation and neuroacanthocytosis

Area of Science:

• Neurogenetics
• Movement Disorders
• Neurodegenerative Diseases

Background:

• Choreo-acanthocytosis (hAc) is an autosomal-recessive neurodegenerative disorder.
• It typically presents with movement abnormalities, seizures, and behavioral changes.

Purpose of the Study:

• To report a case of Choreo-acanthocytosis in a male patient with progressive movement disorder, seizures, and cognitive decline.
• To emphasize the diagnostic challenges, differential diagnoses, and the role of genetic testing in atypical movement disorders.
• To expand the understanding of the VPS13A gene's mutational spectrum and clinical variability.

Main Methods:

• Clinical case presentation.
• Neurological examination and neuroimaging.
• Routine metabolic and infectious investigations.
• Genetic testing for VPS13A variants.

Main Results:

• The patient exhibited progressive movement disorder, seizures, and cognitive impairment.
• Neuroimaging suggested basal ganglia degeneration.
• Genetic analysis revealed a likely pathogenic VPS13A variant (c.799C>T, p.Arg267Ter).

Conclusions:

• This case underscores the complexity of diagnosing Choreo-acanthocytosis.
• Genetic testing is crucial for identifying rare mutations like VPS13A in atypical movement disorders.
• The VPS13A mutation significantly impacts patient quality of life and expands the known clinical presentations of hAc.