Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23.
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.
Marconi
Roberto
R
Department of Neurology, Misericordia Hospital, Grosseto, Italy.
De Fusco
Maurizio
M
Aridon
Paolo
P
Plewnia
Katrin
K
Rossi
Maja
M
Carapelli
Sadia
S
Ballabio
Andrea
A
Morgante
Letterio
L
Musolino
Rosa
R
Epifanio
Antonio
A
Micieli
Giuseppe
G
De Michele
Giuseppe
G
Casari
Giorgio
G
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