A Rare Case of Paroxysmal Kinesigenic Dyskinesia with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Abstract

Abstract Paroxysmal kinesigenic dyskinesia (PKD) represents a rare subset of movement disorders characterized by involuntary movements triggered by sudden voluntary actions, without loss of consciousness. Typically manifesting in the first or second decade of life, PKD can present as either familial or sporadic, with the most common mutation identified in familial cases being in the proline-rich transmembrane protein 2 gene. This abstract presents a unique case of PKD accompanied by a progressive spastic ataxic syndrome in a 17-year-old male with a history of consanguinity. The patient exhibited a constellation of symptoms including delayed motor milestones, unsteady gait, slurred speech, and dystonic movements, alongside neurological findings consistent with cerebellar dysfunction and peripheral neuropathy. Genetic testing revealed pathogenic variants in the SACS gene, confirming the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. This case underscores the importance of thorough neurological evaluation, including consideration of atypical presentations, in patients with PKD. In addition, it sheds light on the association between SACS gene mutations and an autosomal recessive variant of PKD, emphasizing the need for awareness and recognition of such rare manifestations in clinical practice.