Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene.
Neurol Sci
; 27(4): 252-6, 2006 Sep.
Article
in En
| MEDLINE
| ID: mdl-16998728
ABSTRACT
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Arginine
/
Family Health
/
Cysteine
/
CADASIL
/
Receptors, Notch
/
Mutation
Type of study:
Prognostic_studies
Limits:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
Europa
Language:
En
Journal:
Neurol Sci
Journal subject:
NEUROLOGIA
Year:
2006
Document type:
Article
Affiliation country: