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

M. Ragno, G. M. Fabrizi, G. Cacchiò, M. Scarcella, G. Sirocchi, F. Selvaggio, F. Taioli, M. Ferrarini, Luigi Trojano

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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.

Original languageEnglish
Pages (from-to)252-256
Number of pages5
JournalNeurological Sciences
Volume27
Issue number4
DOIs
Publication statusPublished - Sep 2006

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Keywords

  • CADASIL
  • Cognitive impairment
  • Genetics
  • Neuropsychology
  • Vascular dementia

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Ragno, M., Fabrizi, G. M., Cacchiò, G., Scarcella, M., Sirocchi, G., Selvaggio, F., Taioli, F., Ferrarini, M., & Trojano, L. (2006). Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene. Neurological Sciences, 27(4), 252-256. https://doi.org/10.1007/s10072-006-0679-7