P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report

Abstract

Background: CACNA1A gene encodes the pore forming alpha-1 A subunit of neuronal voltage-dependent P/Q-type Ca(2+) channels. Mutations in this gene result in clinical heterogeneity, including hemiplegic migraine, episodic ataxia, or progressive chronic conditions. Case report: a 8 years old boy was admitted to our neurological unit due to an acute onset of left hemiparesis developed after a febrile episode. He complained also headache with migraine characteristics. Brain MRI showed right hemispheric oedema. The hemiparesis disappeared completely after 1 week, and after steroids treatment. The patient was already known to our clinic since he was 2 years old when he was referred to us for a motor and cognitive developmental delay and for a cerebellar syndrome diagnosed as congenital ataxia. In the past all metabolic, biochemical and genetical analysis resulted negative. Serial brain MRI showed a progressive cerebellar atrophy. CACNA1A gene mutation was hypothesised and sequence analysis revealed a heterozygous mutation c.4013C>T (p.I1338T) affecting the S4 segment and potentially damaging to the protein. This is a de novo mutation because it was not found in both parents. Discussion: to the best our knowledge this mutation of CACNA1A gene has not been reported in the literature. Similar cases of a relatively long history of cerebellar ataxia, cognitive impairment and paroxysmal episodes are reported in the literature due to CACNA1A mutations. CACNA1A mutations present with a wide clinical spectrum. Congenital ataxia, mental retardation, and hemiplegic episode can be the presenting signs of CACNA1A mutations.