To date, the CACNA1A gene has been associated with hemiplegic migraine, episodic ataxia type 2, spinocerebellar ataxia, idiopathic generalized epilepsy, benign paroxysmal torticollis and multiple psychiatric disorders. More recently, the CACANA1A gene has been found to play a role in ovarian and bladder cancer. We report the persistence of hemiplegia in a patient with significant family history and genetically proven CACNA1A mutation, leading to the diagnosis of symptomatic diffuse astrocytoma. 

A 21-year-old female with a family history of spinocerebellar and episodic ataxia, and a personal history of hemiplegic migraine and episodic ataxia type 2 (genetic testing: CACNA1A gene mutation, pG127V) presented with an increase in the severity and frequency of her attacks. She described episodes of generalized weakness, blurry vision, vertigo, nausea with vomiting, now occurring 2-3 times a week lasting several hours without return to baseline. Her physical therapist noted gait impairment that progressively worsened. In-office neurological examination revealed mild weakness in the right upper and lower extremity prompting the concern to pursue additional work-up. 

The phenotypic spectrum of the CACANA1A gene shows significant clinical variability but persistent interictal neurological deficits episodes should raise suspicion for alternative pathology. Similarly, the role of the CACNA1A gene in neuro-oncological pathology should be further explored.