Arteropatia cerebral autosomal dominante com infartos subcorticais e leucoencefalopatia (CADASIL) na Argentina

Maximiliano A. Hawkes; Miguel Wilken; Verónica Bruno; Virginia Pujol-Lereis; Guillermo Povedano; María Saccoliti; Analia Taratuto; Sebastián F. Ameriso

doi:10.1590/0004-282X20150113

Arteropatia cerebral autosomal dominante com infartos subcorticais e leucoencefalopatia (CADASIL) na Argentina

Translated title of the contribution: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Argentina

Maximiliano A. Hawkes, Miguel Wilken, Verónica Bruno, Virginia Pujol-Lereis, Guillermo Povedano, María Saccoliti, Analia Taratuto, Sebastián F. Ameriso

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

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.

Translated title of the contribution	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Argentina
Original language	Portuguese
Pages (from-to)	751-754
Number of pages	4
Journal	Arquivos de Neuro-Psiquiatria
Volume	73
Issue number	9
DOIs	https://doi.org/10.1590/0004-282X20150113
State	Published - Sep 1 2015
Externally published	Yes

Keywords

CADASIL
Leukoencephalopathy
South America
Stroke
Vascular dementia

ASJC Scopus subject areas

Clinical Neurology
Biological Psychiatry

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title = "Arteropatia cerebral autosomal dominante com infartos subcorticais e leucoencefalopatia (CADASIL) na Argentina",

abstract = "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.",

keywords = "CADASIL, Leukoencephalopathy, South America, Stroke, Vascular dementia",

author = "Hawkes, {Maximiliano A.} and Miguel Wilken and Ver{\'o}nica Bruno and Virginia Pujol-Lereis and Guillermo Povedano and Mar{\'i}a Saccoliti and Analia Taratuto and Ameriso, {Sebasti{\'a}n F.}",

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doi = "10.1590/0004-282X20150113",

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T1 - Arteropatia cerebral autosomal dominante com infartos subcorticais e leucoencefalopatia (CADASIL) na Argentina

AU - Hawkes, Maximiliano A.

AU - Wilken, Miguel

AU - Bruno, Verónica

AU - Pujol-Lereis, Virginia

AU - Povedano, Guillermo

AU - Saccoliti, María

AU - Taratuto, Analia

AU - Ameriso, Sebastián F.

PY - 2015/9/1

Y1 - 2015/9/1

N2 - 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.

AB - 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.

KW - CADASIL

KW - Leukoencephalopathy

KW - South America

KW - Stroke

KW - Vascular dementia

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Arteropatia cerebral autosomal dominante com infartos subcorticais e leucoencefalopatia (CADASIL) na Argentina

Abstract

Keywords

ASJC Scopus subject areas

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