Familial hemiplegic migraine: clinical features and probable linkage to chromosome 1 in an Italian family.
We describe an Italian family with familial hemiplegic migraine (FHM), subtle cerebellar signs and probable linkage to chromosome 1. FHM is genetically heterogeneous; in about 50% of families it is caused by mutations within the CACNA1A gene on chromosome 19. Linkage to 1q31 and 1g21-23 has also been established. Other families do not link either to chromosome 19 or 1. Chromosome 19-linked FHM may display nystagmus and cerebellar ataxia. Affected family members were neurologically examined; linkage analysis was performed with markers for chromosomes 19p13, 1q21-23, and 1q32. Five family members had hemiplegic migraine, and 3 displayed additional cerebellar signs (scanning speech and nystagmus). In 1 patient, episodes of hemiplegic migraine triggered by mild head trauma. Epilepsy and mental retardation were also found in 1 affected relative each. Lod scores for linkage to 19p13 were negative, while the maximum two-point lod score was 1.81 to 1q21-23. This family with FHM and associated subtle cerebellar signs, epilepsy and mental retardation showed probable linkage to 1q21-23.
Cevoli
S
S
Institute of Clinical Neurology, University of Bologna Medical School, Via Ugo Foscolo 7, I-40123 Bologna, Italy.
Pierangeli
G
G
Monari
L
L
Valentino
M L
ML
Bernardoni
P
P
Mochi
M
M
Cortelli
P
P
Montagna
P
P
D000328:Adult; D016633:Apolipoprotein A-II / Q000235:genetics; D015220:Calcium Channels / Q000235:genetics; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000503:physiopathology*; D002531:Cerebellum / Q000503:physiopathology*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D010375:Pedigree; D019683:Penetrance; D020864:Calcium Channels, N-Type
D016633:Apolipoprotein A-II; D015220:Calcium Channels; D005819:Genetic Markers; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type