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
Neurologyjournal_title
Neurologyauthors
Dichgans M,Herzog J,Gasser Tdoi
10.1212/wnl.57.9.1714subject
Has Abstractpub_date
2001-11-13 00:00:00pages
1714-7issue
9eissn
0028-3878issn
1526-632Xjournal_volume
57pub_type
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