NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL.

Abstract:

:Mutations in NOTCH3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary angiopathy causing stroke and vascular dementia. All CADASIL mutations identified so far result in the loss or gain of one cysteine residue within epidermal growth factor (EGF)-like repeat domains. Here an in-frame deletion causing a loss of three cysteine residues within EGF repeat 6 is reported. These data are consistent with the hypothesis that the change toward an odd number of cysteine residues within a given EGF repeat and therefore an unpaired, reactive cysteine residue is the common and critical molecular event in CADASIL.

journal_name

Neurology

journal_title

Neurology

authors

Dichgans M,Herzog J,Gasser T

doi

10.1212/wnl.57.9.1714

subject

Has Abstract

pub_date

2001-11-13 00:00:00

pages

1714-7

issue

9

eissn

0028-3878

issn

1526-632X

journal_volume

57

pub_type

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