6533b85dfe1ef96bd12be94a
RESEARCH PRODUCT
Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23
Giuseppe De MicheleLetterio MorganteKatrin PlewniaMaja RossiSadia CarapelliGiorgio CasariPaolo AridonMaurizio De FuscoRoberto MarconiRosa MusolinoGiuseppe MicieliAndrea BallabioA. Epifaniosubject
AdultMaleAdolescentGenetic LinkageMigraine with AuraLocus (genetics)Genetic determinismGenetic linkageATP1A2Chromosome 19HumansMedicineChildFamilial hemiplegic migraineAgedAged 80 and overGeneticsbusiness.industryChromosome MappingChromosomeMiddle Agedmedicine.diseasePedigreeNeurologyChromosomes Human Pair 1MutationMutation testingFemaleNeurology (clinical)Lod ScorebusinessNeurosciencedescription
Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder characterized by episodes of transient hemiparesis followed by headache. Two chromosomal loci are associated to FHM: FHM1 on chromosome 19 and FHM2 on chromosome 1q21-23. Mutations of the alpha-1A subunit of the voltage gated calcium channel (CACNA1A) are responsible for FHM1. FHM2 critical region spans 28 cM, hence hampering the identification of the responsible gene. Here, we report the FHM2 locus refining by linkage analysis on two large Italian families affected by pure FHM. The new critical region covers a small area of 0.9Mb in 1q23 and renders feasible a positional candidate approach. By mutation analysis, we excluded the calsequestrin and two potassium channel genes mapping within the narrowed FHM2 locus.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2003-01-01 | Annals of Neurology |