R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report
Open Access
- 1 January 2021
- journal article
- research article
- Published by S. Karger AG in Case Reports in Neurology
- Vol. 13 (1), 123-130
- https://doi.org/10.1159/000512275
Abstract
Mutations in the CACNA1A gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the CACNA1A gene (c.4055G>A, p.R1352Q). The R1352Q CACNA1A variant shares the phenotype with other described CACNA1A mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.Keywords
This publication has 16 references indexed in Scilit:
- Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorderNeurology, 2020
- Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and managementThe Lancet Neurology, 2011
- De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraineNeurology, 2010
- Severe and Progressive Neurotransmitter Release Aberrations in Familial Hemiplegic Migraine Type 1 Cacna1a S218L Knock-in MiceJournal of Neurophysiology, 2010
- A method and server for predicting damaging missense mutationsNature Methods, 2010
- CaV2.1 channelopathiesPflügers Archiv - European Journal of Physiology, 2010
- Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutationDevelopmental Medicine and Child Neurology, 2009
- SIFT: predicting amino acid changes that affect protein functionNucleic Acids Research, 2003
- The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium ChannelNew England Journal of Medicine, 2001
- Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraineAnnals of Neurology, 2001