Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study
Giuseppe Donato Mangano1, Maria Rita Capizzi2, Elide Mantuano3
1Department of Biomedicine, Neuroscience and Advanced Diagnostics (BIND), University of Palermo, Palermo, Italy.
Insights
This study describes pediatric familial hemiplegic migraine (FHM) patients, finding that early-onset FHM attacks are typically infrequent and mild. Most patients showed no new neurological issues or cognitive decline during follow-up.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Familial hemiplegic migraine (FHM) is a rare neurological disorder.
- Data on pediatric FHM cases are scarce, often extrapolated from adult cohorts.
Purpose of the Study:
- To characterize a cohort of pediatric patients with genetically confirmed FHM.
- To explore genotype-phenotype correlations for potential prognostic factors in severe FHM.
Main Methods:
- Identified pediatric patients meeting International Classification of Headache Disorders, 3rd edition criteria for FHM.
- Confirmed molecular diagnosis and onset of first attack before age 18.
- Enrolled nine patients with mutations in CACNA1A or ATP1A2 genes.
Main Results:
- Nine pediatric FHM patients (7 male, 2 female) were analyzed.
- Mutations identified: 3 (33%) in CACNA1A, 5 (55%) in ATP1A2, 1 with both.
- Mean attack duration varied: 11.3h overall, 3.8h (ATP1A2), 24.3h (CACNA1A).
- Low attack frequency (0.4/year) observed during follow-up (mean 7.4 years).
Conclusions:
- Pediatric FHM patients in this cohort experienced infrequent, non-severe attacks.
- Symptoms generally improved over time.
- No novel neurological disorders or cognitive deterioration were observed.
Objective:
The aim of this study was to describe a cohort of pediatric patients with genetically confirmed familial hemiplegic migraine (FHM). The knowledge of genotype-phenotype correlations may suggest prognostic factors associated with severe phenotypes.
Background:
Hemiplegic migraine is a rare disease and data concerning the pediatric population are even more rare as they are often extrapolated from mixed cohorts.
Methods:
We selected patients who met International Classification of Headache Disorders, third edition criteria for FHM, who had a molecular diagnosis, and whose first attack occurred under the age of 18 years.
Results:
We enrolled nine patients (seven males and two females) first referred to our three centers. Three of the nine (33%) patients had calcium voltage-gated channel subunit alpha1 A (CACNA1A) mutations, five (55%) had ATPase Na+/K+ transporting subunit alpha 2 (ATP1A2) mutations, and one had both genetic mutations. The patients experienced at least one aura feature other than hemiplegia during the first attack. The mean (SD) duration of HM attacks in the sample was 11.3 (17.1) h; 3.8 (6.1) h in the ATP1A2 group, and 24.3 (23.5) h in the CACNA1A group. The mean (SD, range) duration of follow-up was 7.4 (2.2, 3-10) years. During the first year from the disorder's onset, only four patients had additional attacks. Over the course of follow-up, the attack frequency overall was 0.4 attacks/year without a difference between the two groups (CACNA1A and ATP1A2).
Conclusion:
The study data show that most of our patients with early-onset FHM experienced infrequent and non-severe attacks, which improved over time. Furthermore, the clinical course revealed neither the appearance of novel neurological disorders or a deterioration of basic neurological or cognitive functioning.
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