The clinical and genetic studies in a family of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 187-190, 2009.
Artigo
em Chinês
| WPRIM
| ID: wpr-287427
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical features and genetic diagnostic method of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).</p><p><b>METHODS</b>A systematic study on the clinical manifestations, neuroimaging characteristics, therapeutic measures and molecular genetics was performed. An investigation on the onset and hereditary pattern of the family was also done.</p><p><b>RESULTS</b>The main clinical features including poor memory and history of stroke were found. And no risk factors of hypertension and arteriosclerosis were found. A positive family history was confirmed. Neuroimaging examination showed multiinfarct lesions and leukoencephalopathy. All these features are in conformity with those of CADASIL. A mutation in the third and fourth exon of the NOTCH3 gene was identified in the 10 cases of 4 generations. The clinical or subclinical onset in the 10 cases was consistent with classical autosomal dominant inheritance.</p><p><b>CONCLUSION</b>The clinical and molecular genetic features of the family accord with CADASIL.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Análise Mutacional de DNA
/
Testes Genéticos
/
Transtornos Cognitivos
/
Acidente Vascular Cerebral
/
CADASIL
/
Receptores Notch
/
Genética
/
Infarto
/
Mutação
Tipo de estudo:
Estudo prognóstico
/
Fatores de risco
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2009
Tipo de documento:
Artigo
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