CACNA1C -Related Channelopathy Presenting With Adult-Onset Combined Dystonia-Parkinsonism: A Novel Neurological Presentation.
Donatella Ottaviani, Ruggero Bacchin, Arlend Pjeçi et al.
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Case in brief
A 66-year-old woman presented with combined dystonia-parkinsonism, including painful tremulous cervical dystonia, blepharospasm, divergent strabismus, hypomimia, mild left-hand dystonic posturing, action tremor, and upper-limb bradykinesia. Genetic testing identified a pathogenic heterozygous CACNA1C nonsense variant, c.481C > T (p.Arg161*), predicted to cause early protein truncation. Botulinum toxin type A provided only partial relief of cervical dystonia; bilateral globus pallidus internus deep brain stimulation was followed by improvement in dystonia.
What made this case unusual
The patient had adult-onset combined dystonia-parkinsonism without a prior neurodevelopmental history, associated with a CACNA1C variant previously reported in individuals with neurodevelopmental phenotypes.
Diagnostic / clinical pearl
CACNA1C-related disease may present with adult-onset movement disorders even without a history of neurodevelopmental disease; genetic testing can help identify this association.