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

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

doi:10.1590/0004-282x20150113

Cited by 10 publications

(13 citation statements)

References 18 publications

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“…As mutações resultam em anomalias vasculares, como alteração de tônus miogênico e de autorregulação do fluxo cerebral, que se apresenta diminuído. Existe ainda isquemia subcortical crônica, que pode causar infartos lacunares recorrentes e deformação estrutural [17][18][19][20][21] . As manifestações da CADASIL se apresentam em 85% dos casos como AVE/AIT, que se dá por volta dos 45 anos, em pacientes fatores de risco para doenças cerebrovasculares.…”

Section: Discussionunclassified

“…As manifestações da CADASIL se apresentam em 85% dos casos como AVE/AIT, que se dá por volta dos 45 anos, em pacientes fatores de risco para doenças cerebrovasculares. Em considerável parte dos casos, há manifestação de enxaqueca com áurea por volta dos 30 anos de idade 17,20,22 . A doença de Fabry está associada ao gene GALA presente na região Xq22.…”

Section: Discussionunclassified

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AVE isquêmico em paciente jovem sem fatores de risco: relato de caso

Lacerda

Brito

Souza

et al. 2018

Rev. Med. (São Paulo)

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RESUMO:Acidente vascular encefálico (AVE) caracterizase por um complexo de sintomas decorrentes de alterações no suporte sanguíneo cerebral, que duram pelo menos 24 horas causam lesões cerebrais. Pode ser classificado em isquêmico (AVEi) e hemorrágico (AVEh), sendo que o mais comum deles é o AVEi, caracterizado por interrupção do fluxo sanguíneo em uma determinada área do encéfalo devido a obstrução arterial ou venosa. A falta de suprimento sanguíneo causa um infarto na área vascularizada pelo vaso obstruído, causando morte neuronal. Existem fatores de risco modificáveis e não modificáveis para o AVE, sendo alguns deles: hipertensão, diabetes, tabagismo, etilismo, sedentarismo, dislipidemias, idade superior aos 55 anos, raça negra, história familiar e AVE prévio. O diagnóstico segue protocolos de acordo com o tempo de início dos sintomas, e basicamente, avalia-se quadro clínico, TC de crânio sem contraste ou ressonância magnética de crânio e exames laboratoriais. O tratamento varia de acordo com sua classificação. No caso apresentado a paciente do sexo feminino, sem comorbidades prévias e fatores de risco, desenvolveu um AVEi mesencefálico com graves sequelas. Não foram investigados alterações em genes da coagulação que pudessem explicar a causa da patologia. O AVEi jovem consiste no acidente vascular encefálico presente em adultos com menos de 45 anos. A patologia necessita, além das investigações padrões, de uma averiguação quanto a etiologia genética. Várias patologias estão associadas ao quadro, como CADASIL, doença de Fraby, coagulopatias, anemia de células falciformes, síndrome de Sneddon, MELAS, síndrome de EhlersDanlos tipo IV, neurofibrimatose tipo 1 e doença de Moya-Moya. Diante disso evidencia-se a necessidade de se conhecer sobre novos estudos e atualizações que descrevam causas não tão conhecidas de AVE.Descritores: Acidente vascular cerebral; Pacientes; Adulto jovem; Adulto; Fatores de risco.ABSTRACT: Encephalic stroke (stroke) is characterized by a complex of symptoms resulting from changes in brain blood support, which last at least 24 hours cause brain damage. It can be classified as ischemic stroke and hemorrhagic stroke, the most common being ischemic stroke, characterized by interruption of blood flow in a certain area of the brain due to arterial or venous obstruction. The lack of blood supply causes an infarct in the area vascularized by the obstructed vessel, causing neuronal death. There are modifiable and non-modifiable risk factors for stroke, including hypertension, diabetes, smoking, alcoholism, sedentary lifestyle, dyslipidemias, age over 55, black race, family history and previous stroke. The diagnosis follows protocols according to the time of onset of symptoms, and basically, it is evaluated the clinical picture, skull CT without contrast or magnetic resonance of the skull and laboratory tests. The treatment varies according to its classification. In the case presented to the female patient, without previous comorbidities and risk factors, she developed a mesencephalic ischemic st...

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Section: Discussionunclassified

AVE isquêmico em paciente jovem sem fatores de risco: relato de caso

Lacerda

Brito

Souza

et al. 2018

Rev. Med. (São Paulo)

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“…To our knowledge, the first case of CADASIL on the continent was described in Uruguay in 1999, (34) while subsequent cases have been reported in Argentina, (35,36) Colombia, (37) Brazil, (38) and Chile. (39) However, no cases have previously been described in Peru.…”

Section: Discussionmentioning

confidence: 99%

The first report of CADASIL in Peru: Olfactory dysfunction on initial presentation

Vishnevetsky

Inca‐Martinez²,

Milla-Neyra³

et al. 2016

eNeurologicalSci

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that is characterized by migraines, subcortical vascular events, cognitive decline, and mood disturbances. However, many CADASIL cases present with unusual symptoms such as status epilepticus, a movement disorder, or sensory dysfunction. This study describes the clinical, genetic, and radiologic characteristics of a Peruvian family with CADASIL in which multiple family members presented with severe olfactory deficits. Seven members of the family have symptoms suggestive of CADASIL, with genetic testing revealing R133C mutations in the two patients who underwent genetic testing. Cognitive testing and olfactory identification testing (Smell Identification Test) were performed in three CADASIL patients revealing total anosmia in two tested patients and severe hyposmia in the other. Olfactory dysfunction has been associated with various neurologic and psychiatric conditions, though few studies have linked it with neurovascular disorders such as CADASIL. This first reported case of CADASIL in Peru emphasizes that symptomatic olfactory dysfunction may be an unusual presentation of CADASIL and that olfactory dysfunction is important to evaluate in CADASIL patients.

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“…The presence of possible differences in age of symptom onset between the four previous symptom categories was assessed by analysis of variance (ANOVA) with sex as a cofactor, followed by Newman–Keuls post‐hoc tests for multiple comparisons. Data from the present study were compared with data from previous pooled analyses of published cases from mixed populations [4,12], or published cohorts from different countries, including England [13,14], Italy [15,16], France [17–19], and/or Germany [20,21], Argentina [22], Turkey [23], and recently published studies from Taiwan [5], China [8,24,25] and Japan [26]. Analysis of variance (ANOVA) followed by Newman–Keuls post‐hoc tests for multiple comparisons and χ 2 tests followed by Bonferroni correction for multiple comparisons were used to compare data from the present study with data from the literature comparing the frequencies of reported mutations in Greek families as opposed to families of other ethnic origin.…”

Section: Methodsmentioning

confidence: 99%

CADASIL in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases

Paraskevas

Stefanou

Constantinides

et al. 2021

Euro J of Neurology

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Background Differences have been noted in the clinical presentation and mutational spectrum of CADASIL among various geographical areas. The aim of the present study was to investigate the mode of clinical presentation and genetic mutations reported in Greece. Methods After a systematic literature search, we performed a pooled analysis of all published CADASIL cases from Greece. Results We identified 14 studies that reported data from 14 families comprising 54 patients. Migraine with aura was reported in 39%, ischemic cerebrovascular diseases in 68%, behavioral‐psychiatric symptoms in 47% and cognitive decline in 60% of the patients. The mean (±SD) age of onset for migraine with aura, ischemic cerebrovascular diseases, behavioral‐psychiatric symptoms and cognitive decline was 26.2 ± 8.7, 49.3 ± 14.6, 47.9 ± 9.4 and 42.9 ± 10.3, respectively; the mean age at disease onset and death was 34.6 ± 12.1 and 60.2 ± 11.2 years. With respect to reported mutations, mutations in exon 4 were the most frequently reported (61.5% of all families), with the R169C mutation being the most common (30.8% of all families and 50% of exon 4 mutations), followed by R182C mutation (15.4% of all families and 25% of exon 4 mutations). Conclusions The clinical presentation of CADASIL in Greece is in accordance with the phenotype encountered in Caucasian populations, but differs from the Asian phenotype, which is characterized by a lower prevalence of migraine and psychiatric symptoms. The genotype of Greek CADASIL pedigrees is similar to that of British pedigrees, exhibiting a high prevalence of exon 4 mutations, but differs from Italian and Asian populations, where mutations in exon 11 are frequently encountered.

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

Cited by 10 publications

References 18 publications

AVE isquêmico em paciente jovem sem fatores de risco: relato de caso

AVE isquêmico em paciente jovem sem fatores de risco: relato de caso

The first report of CADASIL in Peru: Olfactory dysfunction on initial presentation

CADASIL in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases

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