Background
The CACNA1A gene encodes the pore forming alpha-1A 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
An 8-year-old boy was admitted to our neurological unit due to an acute onset of left hemiparesis developed after a febrile episode. He also complained of headache with migraine characteristics. Brain MRI showed right hemispheric oedema. The hemiparesis disappeared completely after 1 week, and after steroid 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 analyses resulted negative. Serial brain MRI showed a progressive cerebellar atrophy. A 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 was a de novo mutation because it was not found in either parent.
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Conclusions
To the best of our knowledge this mutation of the 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.
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