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Short report
The spectrum of Notch3 mutations in 28 Italian CADASIL families
  1. M T Dotti1,
  2. A Federico1,
  3. R Mazzei2,
  4. S Bianchi1,
  5. O Scali1,
  6. F L Conforti2,
  7. T Sprovieri2,
  8. D Guidetti3,
  9. U Aguglia4,
  10. D Consoli5,
  11. L Pantoni6,
  12. C Sarti6,
  13. D Inzitari6,
  14. A Quattrone2
  1. 1Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy
  2. 2Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy
  3. 3Unit of Neurology, Reggio Emilia, Italy
  4. 4Unit of Neurology, Reggio Calabria, Italy
  5. 5Unit of Neurology, Vibo Valentia, Italy
  6. 6Department of Neurological and Psychiatric Sciences, University of Florence, Italy
  1. Correspondence to:
 Professor Antonio Federico
 Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Viale Bracci, 53100 Siena, Italy; federicounisi.it

Abstract

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a cause of hereditary cerebrovascular disease. It results from mutations in the Notch3 gene, a large gene with 33 exons. A cluster of mutations around exons 3 and 4 was originally reported and limited scanning of these exons was suggested for the diagnosis in most cases.

Objective: To report Notch3 mutation analysis in 28 unrelated Italian CADASIL families from central and south Italy.

Results: The highest rate of mutations was found in exon 11 (21%) and only 18% of mutations were in exon 4. This may be related to the peculiar distribution of Notch3 mutations in the regions of origin of the families.

Conclusions: The results suggest that limited scanning of exons 3 and 4 is inadvisable in CADASIL cases of Italian origin.

  • CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy
  • DHPLC, denaturing high performance liquid chromatography
  • GOM, granular osmiophilic material
  • Notch3
  • CADASIL
  • Italy

https://doi.org/10.1136/jnnp.2004.048207

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    Footnotes

    • Competing interests: none declared