Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.
J Stroke Cerebrovasc Dis
; 22(4): 539-44, 2013 May.
Article
en En
| MEDLINE
| ID: mdl-23465844
ABSTRACT
BACKGROUND:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a disease caused by alterations in the NOTCH3 gene.METHODS:
We describe the clinical, instrumental, and genetic findings in CADASIL patients who carry novel NOTCH3 gene mutations. RESULTS ANDCONCLUSIONS:
This study broadens the spectrum of clinical manifestations and genetic alterations associated with this disease.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
CADASIL
/
Receptores Notch
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
J Stroke Cerebrovasc Dis
Asunto de la revista:
ANGIOLOGIA
/
CEREBRO
Año:
2013
Tipo del documento:
Article
País de afiliación:
Italia