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Article

CACNA1C -Related Channelopathy Presenting With Adult-Onset Combined Dystonia-Parkinsonism: A Novel Neurological Presentation.

American journal of medical genetics. Part A - 1 Sept 2026

Ottaviani Donatella, Bacchin Ruggero, Pjeçi Arlend, Malaguti Maria Chiara, Longo Chiara, Sarubbo Silvio, Giometto Bruno, Dzinovic Ivana, Zech Michael, Di Fonzo Alessio, Monfrini Edoardo

Abstract excerpt

Pathogenic variants in CACNA1C have been associated with cardiac arrhythmias and neurodevelopmental disorders, occasionally accompanied by movement disorders. Here we report the case of a 66-year-old female patient with combined dystonia-parkinsonism carrying a pathogenic CACNA1C variant. Neurological examination revealed painful tremulous cervical dystonia, blepharospasm, divergent strabismus, hypomimia, and...

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Calcium Channels, L-Type
Channelopathies
Codon, Nonsense
Deep Brain Stimulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Globus Pallidus

Parkinsonian Disorders

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Identifiers

PMID: 41978253
DOI: 10.1002/ajmg.a.70168

Genes

CACNA1C

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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