An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Michele Ragno, Elisabeth Tournier-Lasserve, Mario G. Fiori, Antonio Manca, Maria Cristina Patrosso, Alessandra Ferlini, Giovanna Sirocchi, Luigi Trojano, Hugues Chabriat, Fabrizio Salvi

Research output: Contribution to journalArticlepeer-review

Abstract

Vascular dementia is usually sporadic and associated with definite risk factors. Several cases also occur in a familial fashion, and may affect middle-aged or even younger subjects. Recently, an autosomal dominant inheritance was demonstrated in two unrelated French families, the members of which were affected by stroke-like episodes culminating in progressive dementia. Genetic linkage analysis assigned the disease locus to chromosome 19q12. We report an additional kindred of Italian origin in which at least 16 subjects presented leukoencephalopathic alterations. Recurrent strokes, psychiatric disturbances, dementia, and in 2 members, tetraplegia and pseudobulbar palsy were the hallmarks of this syndrome. Notably, 5 asymptomatic individuals had neuroradiological signs of leukoencephalopathy. Pathological examination of 1 subject revealed a widespread vasculopathy of the perforating arterioles, characterized by deposition of eosinophilic- congophilic material that did not immunostain with antibodies against priori protein, β-amyloid, cystatin C, transthyretin, or heat-shock protein 70 and was similar to that described in the French families. Based on the maximum led score, the most likely location for the disease locus was also mapped to chromosome 19q12, and found to coincide with the CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) locus. The present results confirm the existence of a nosologically distinct, autosomal dominant cerebrovascular disease, presenting with recurrent subcortical ischemic strokes independent of vascular risk factors.

Original languageEnglish
Pages (from-to)231-236
Number of pages6
JournalAnnals of Neurology
Volume38
Issue number2
DOIs
Publication statusPublished - Aug 1995

ASJC Scopus subject areas

  • Neuroscience(all)

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