Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene

Neurol Sci. 2006 Sep;27(4):252-6. doi: 10.1007/s10072-006-0679-7.

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.

Publication types

  • Comparative Study

MeSH terms

  • Aged
  • Arginine / genetics*
  • CADASIL / genetics*
  • CADASIL / physiopathology
  • Cysteine / genetics*
  • DNA Mutational Analysis / methods
  • Exons
  • Family Health*
  • Female
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Mutation*
  • Neuropsychological Tests / statistics & numerical data
  • Receptor, Notch3
  • Receptors, Notch / genetics*

Substances

  • NOTCH3 protein, human
  • Receptor, Notch3
  • Receptors, Notch
  • Arginine
  • Cysteine