Cavernous angiomas of the nervous system in Italy: clinical and genetic study

We performed a clinical and genetic study of patients affected by cavernous angiomas (CA) of the nervous system. We examined initial signs and symptom s in sporadic and familiar cases. We obtained clinical, neuroimaging and ge netic data on 15 Italian patients with CA of the nervous system with positi ve, doubtful or apparently negative family history. Genetic markers surroun ding three different gene regions (7q, 3q and 7p) were analysed. In one sma ll family, genetic linkage was consistent with all chromosome loci. In anot her family with the unusual association of cerebral and spinal CA, linkage with chromosome 7q and, likely, 7p was excluded, while linkage with locus 3 q was possible. Our results indicate that Italian families with CA may show genetic heterogeneity. Non-specific and subtle onset symptoms hide the pre sence of CA within families. Patients with multiple CA may have silent cere bral lesions confirming the low penetrance of clinical signs in spite of ra diological ones.