08.02.2018 | Letter to the Editor
An unusual phenocopy of the HANAC syndrome without genetic involvement of COL4A1/COL4A2
verfasst von:
Anastasia Bougea, Elisabeth Kapaki, Vassilis Constantinides, Christos Yapijakis, George P. Paraskevas
Erschienen in:
Acta Neurologica Belgica
|
Ausgabe 1/2018
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Excerpt
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoancepahlopathy (CADASIL), due to NOTCH3 mutations, is the most common cause of inherited subcortical small vessel disease (SSVD), followed by mutations of the collagen type IV genes (COL4A1/A2) [
1]. Among the various presentations of the latter, a specific phenotype comprising hereditary angiopathy, nephropathy, aneurysms and cramps (HANAC) has been described [
1]. In some patients with features highly suggestive of CADASIL, no NOTCH3 mutations are identified; these are called CADASIL-like patients [
2] and a CADASIL-scale has been introduced for pre-genetic screening [
3]. COL4A1/A2-like patients have not been described yet. …