Get access

The Prevalence of Familial Hemiplegic Migraine With Cerebellar Ataxia and Spinocerebellar Ataxia Type 6 in Portugal

Authors


  • Conflict of Interest Statement: The authors declare that there is no conflict of interest.
  • Funding: This study was supported by the grant PIC/IC/83232/2007 from the Fundacão para a Ciência e Tecnologia. Isabel Alonso is funded by the Programa Ciência, POPH-QREN–Tipologia 4.2–Promoção do Emprego Científico, cofunded by the European Social Fund, and has received national fundsfrom the Ministério da Ciência e Ensino Superior.

Abstract

Background

CACNA1A gene disorders present a variable familial phenotype of ataxia, migraine with aura, and/or hemiplegic migraine. Prevalence data for these conditions are scarce.

Objective

The aim of this study is to report a minimal prevalence estimate for familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.

Methods

This is a multisource population-based prevalence study. Patients and families with spinocerebellar ataxia type 6 and familial hemiplegic migraine and cerebellar ataxia identified through the Portuguese survey of hereditary ataxias and spastic paraplegias were re-evaluated. Prevalent patients were confirmed to be alive and affected at the 1st of January 2013.

Results

One family with spinocerebellar ataxia type 6 and 2 families with other CACNA1A gene mutations were identified. From these families, 23 patients were alive and living in Portugal in the prevalence day, for an estimated national prevalence per 100,000 inhabitants of 0.21 for familial hemiplegic migraine with cerebellar ataxia and of 0.01 for spinocerebellar ataxia type 6.

Conclusion

The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 are both probably low in Portugal.

Ancillary