Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Argentina.
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.
Departament of Neurology,, FLENI, Neurological Research Institute Raúl Carrea, Buenos Aires, AR.
Maximiliano A
MA
Hawkes
Departament of Neurology,, FLENI, Neurological Research Institute Raúl Carrea, Buenos Aires, AR.
Miguel
M
Wilken
Departament of Neurology,, FLENI, Neurological Research Institute Raúl Carrea, Buenos Aires, AR.
Verónica
V
Bruno
Departament of Neurology,, FLENI, Neurological Research Institute Raúl Carrea, Buenos Aires, AR.
Virginia
V
Pujol-Lereis
Departament of Neurology,, FLENI, Neurological Research Institute Raúl Carrea, Buenos Aires, AR.
Guillermo
G
Povedano
Departament of Pathology, FLENI, Neurological Research Institute Raúl Carrea, Buenos Aires, AR.
María
M
Saccoliti
Departament of Pathology, FLENI, Neurological Research Institute Raúl Carrea, Buenos Aires, AR.
Analia
A
Taratuto
Departament of Neurology,, FLENI, Neurological Research Institute Raúl Carrea, Buenos Aires, AR.
Sebastián F
SF
Ameriso
D000328:Adult; D000368:Aged; D001118:Argentina; D001706:Biopsy; D001921:Brain / Q000473:pathology*; D046589:CADASIL / Q000150:complications* / Q000175:diagnosis* / Q000208:ethnology; D002539:Cerebral Arterial Diseases; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D020521:Stroke / Q000208:ethnology / Q000209:etiology*; D044465:White People