title: Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23.
abstract: 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.
authors.affiliation: Department of Neurology, Misericordia Hospital, Grosseto, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Marconi
authors.forename: Maurizio
authors.initials: M
authors.lastname: De Fusco
authors.forename: Paolo
authors.initials: P
authors.lastname: Aridon
authors.forename: Katrin
authors.initials: K
authors.lastname: Plewnia
authors.forename: Maja
authors.initials: M
authors.lastname: Rossi
authors.forename: Sadia
authors.initials: S
authors.lastname: Carapelli
authors.forename: Andrea
authors.initials: A
authors.lastname: Ballabio
authors.forename: Letterio
authors.initials: L
authors.lastname: Morgante
authors.forename: Rosa
authors.initials: R
authors.lastname: Musolino
authors.forename: Antonio
authors.initials: A
authors.lastname: Epifanio
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Micieli
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
authors.forename: Giorgio
authors.initials: G
authors.lastname: Casari
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002874:Chromosome Mapping / Q000379:methods; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D010375:Pedigree