Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene.
Here we describe clinical, neuropsychological and neuroradiological findings in 6 subjects belonging to two unrelated Italian cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) kindreds from the same geographic area who shared a common Arg1006Cys mutation. Subjects from Family A were virtually asymptomatic, and yet showed MRI pathological findings and a cluster of sub-clinical neuropsychological defects mainly centred on the visuospatial domain; patients from Family B had presented several clinically relevant episodes and showed a general cognitive impairment compatible with the clinical picture of vascular dementia. The present clinical observations are consistent with the hypothesis of a geographical clustering for CADASIL, and highlight that sub-clinical cognitive impairment may help to identify this syndrome in families presenting with only migraine.
Ragno
M
M
Division of Neurology, C. and G. Mazzoni Hospital, Ascoli Piceno, Italy.
Fabrizi
G M
GM
Cacchiò
G
G
Scarcella
M
M
Sirocchi
G
G
Selvaggio
F
F
Taioli
F
F
Ferrarini
M
M
Trojano
L
L
D000368:Aged; D001120:Arginine / Q000235:genetics*; D046589:CADASIL / Q000235:genetics* / Q000503:physiopathology; D003545:Cysteine / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009483:Neuropsychological Tests / Q000706:statistics & numerical data; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch; D001120:Arginine; D003545:Cysteine