Study of a CADASIL family with migraine as the presenting symptom / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 511-514, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-247645
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinical features and genetic cause for a family affected with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).</p><p><b>METHODS</b>Clinical manifestations, neuroimaging, and genetic analysis were performed.</p><p><b>RESULTS</b>The main clinical features have included stroke, emotional disturbance and history of migraine without progressive memory impairment. A positive family history was confirmed. Cranial MRI has revealed multi-infarct lesions and white matter hyperintensity involving bilateral basal ganglia, subcortex and brain stem. All such features were in keeping with the diagnosis of CADASIL. A rare 2182C>T mutation in exon 14 of the NOTCH3 gene was identified in all available cases.</p><p><b>CONCLUSION</b>Both clinical and molecular features suggested that the family has been affected with CADASIL.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Receptores Notch
/
Receptor Notch3
/
Genética
/
Transtornos de Enxaqueca
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adulto
/
Idoso
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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