Τίτλος:
The prenatal diagnosis of cerebral autosomal dominant arteriopathy with
subcortical infarcts and leukoencephalopathy (CADASIL) by mutation
analysis
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is an important cause of hereditary
stroke. Mutations in the Notch3 gene are clearly causally linked to this
progressive vascular disorder. Cerebral ischemic attacks, cognitive
decline, strokes, and vascular dementia constitute the major
manifestations of this disorder. This report details the prenatal
detection of a Notch3 mutation in the fetus of a couple where the father
had a known mutation in this gene. This is the first report of a
prenatal diagnosis of CADASIL, and another example of a serious, highly
penetrant, and relentlessly progressive degenerative genetic disorder
presenting decades after birth and for which prenatal diagnosis is an
option. Copyright (c) 2005 John Wiley & Sons, Ltd.
Συγγραφείς:
Milunsky, A
Konialis, C
Shim, SH
Maher, TA
Spengos, K
and Ito, M
Pangalos, C
Περιοδικό:
Prenatal Diagnosis
Εκδότης:
John Wiley & Sons, Ltd
Λέξεις-κλειδιά:
CADASIL; prenatal diagnosis; Notch3 gene; stroke; dementia
