Familial hemiplegic migraine

Clinical features and probable linkage to chromosome 1 in an Italian family

S. Cevoli, G. Pierangeli, L. Monari, M. L. Valentino, P. Bernardoni, M. Mochi, P. Cortelli, P. Montagna

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

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 1q21-23 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.

Original languageEnglish
Pages (from-to)7-10
Number of pages4
JournalNeurological Sciences
Volume23
Issue number1
DOIs
Publication statusPublished - 2002

Fingerprint

Migraine with Aura
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 19
Lod Score
Migraine Disorders
Intellectual Disability
Epilepsy
Cerebellar Ataxia
Genetic Markers
Craniocerebral Trauma
Mutation
Genes

Keywords

  • Cerebellar disease
  • Familial hemiplegic migraine
  • Linkage analysis

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Familial hemiplegic migraine : Clinical features and probable linkage to chromosome 1 in an Italian family. / Cevoli, S.; Pierangeli, G.; Monari, L.; Valentino, M. L.; Bernardoni, P.; Mochi, M.; Cortelli, P.; Montagna, P.

In: Neurological Sciences, Vol. 23, No. 1, 2002, p. 7-10.

Research output: Contribution to journalArticle

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