Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Argentina

Arquivos de Neuro-Psiquiatria

Maximiliano A Hawkes¹  Miguel Wilken¹  Verónica Bruno¹  Virginia Pujol-lereis¹  Guillermo Povedano¹  María Saccoliti¹  Analia Taratuto¹  Sebastián F Ameriso¹ 

关键词: CADASIL;    stroke;    South America;    leukoencephalopathy;    vascular dementia;    CADASIL;    acidente vascular cerebral;    América do Sul;    leucoencefalopatia;    demência vascular;   

DOI  :  10.1590/0004-282X20150113

来源: SciELO

【 摘 要 】

CADASIL is the most common cause of hereditary stroke and vascular dementia. Published information about this disease in South America is scant. We describe clinical and demographic characteristics of 13 patients (10 families) with CADASIL from Argentina.Methods Medical records, diagnostic tests and family history of patients with CADASIL were reviewed.Results Thirteen patients with CADASIL (10 families) were included. All patients had European ancestry. Initial presentation was stroke in most patients (n = 11). Stroke patients later developed cognitive complaints (n = 9), migraine with aura (n = 1), apathy (n = 4) and depression (n = 6). External capsule and temporal lobe involvement on MRI were characteristic imaging findings. Two patients died after intracerebral hemorrhage.Conclusion This is the first report of non-related patients with CADASIL in South America addressing ancestry. Since European ancestry is not highly prevalent in all South American countries, there may be variable incidence of CADASIL within this region.

【 授权许可】

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