Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes
| Autor: | Alfons Macaya, Victor Volpini, M del Toro, Manuel Roig, E. Cuenca-Leon, Noèlia Fernàndez-Castillo, Roser Corominas, Bru Cormand |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Periodicity Pediatrics medicine.medical_specialty Adolescent CACNA1A gene Migraine with Aura Molecular Sequence Data Mutation Missense Nerve Tissue Proteins Genetic analysis Sodium Channels Benign paroxysmal torticollis ATP1A2 medicine Humans Amino Acid Sequence Child Torticollis Familial hemiplegic migraine business.industry Basilar-Type Migraine General Medicine Middle Aged medicine.disease Migraine with aura Pedigree NAV1.1 Voltage-Gated Sodium Channel Spain Child Preschool Vertigo Hemiplegic migraine Physical therapy Female Calcium Channels sense organs Neurology (clinical) Sodium-Potassium-Exchanging ATPase medicine.symptom business |
| Zdroj: | Cephalalgia. 28:1039-1047 |
| ISSN: | 1468-2982 0333-1024 |
| DOI: | 10.1111/j.1468-2982.2008.01645.x |
| Popis: | Familial hemiplegic migraine (FHM) is a rare type of migraine with aura. Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). We screened 27 Spanish patients with hemiplegic migraine (HM), basilar-type migraine or childhood periodic syndromes (CPS) for mutations in these three genes. Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with HM, although they have not yet been proven to be pathogenic. Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. This is the first instance of a specific non-synonymous base change being described in a subject affected with CPS. The fact that the molecular screen identified non-synonymous changes in< 15± of our HM patients further stresses the genetic heterogeneity underlying the presumably monogenic forms of migraine. |
| Databáze: | OpenAIRE |
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