The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.
作者： José Barros , Luis Ruano , Joana Domingos , Assunção Tuna , Joana Damásio
DOI: 10.1111/HEAD.12260
关键词: Cerebellar ataxia 、 Hemiplegic migraine 、 Pediatrics 、 Physical therapy 、 Hereditary Ataxias 、 Migraine with aura 、 Spinocerebellar ataxia type 6 、 Familial hemiplegic migraine 、 Population 、 Ataxia 、 Medicine
摘要: 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 this study is to report minimal prevalence estimate cerebellar ataxia and spinocerebellar type 6 in Portugal. Methods This multisource population-based study. Patients families identified through the Portuguese survey hereditary ataxias spastic paraplegias were re-evaluated. Prevalent patients confirmed be alive affected at 1st January 2013. Results One family 2 other CACNA1A mutations identified. From families, 23 living Portugal day, an estimated national per 100,000 inhabitants 0.21 0.01 6. Conclusion The both probably low Portugal.
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