Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation.
CADASIL is an autosomal dominant arteriopathy characterised by diffuse white matter lesions and small subcortical infarcts on neuroimaging and a variable combination of recurrent cerebral ischaemic episodes, cognitive deficits, migraine with aura and psychiatric symptoms. It is caused by mutations in the NOTCH3 gene encoding a NOTCH3 receptor protein. Here, we describe the genetical, clinical, neuropsychological and neuroimaging findings in an Italian CADASIL patient with a rare mutation in exon 10 leading to a Gly528Cys substitution.
Ragno
M
M
Division of Neurology, C. and G. Mazzoni Hospital, Ascoli Piceno, and Department of Neurological and Visual Science, University of Verona, Italy.
Cacchiò
G
G
Fabrizi
G M
GM
Scarcella
M
M
Silvaggio
F
F
Cavallaro
T
T
Taioli
F
F
Trojano
L
L
D000368:Aged; D046589:CADASIL / Q000235:genetics* / Q000473:pathology; D003553:Cystine / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005192:Family Health; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch; D003553:Cystine; D005998:Glycine
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