Squitieri F, Maglione V, Buzzi M G, Nargi E, Novelletto A, Cannella M, Simonelli M, Colonnese C, Simonelli P, Innocenzi G, Gagliardi F M, Caruso R, Ragona G, Cantore G P
Department of Molecular Pathology, Mediterranean Neurological Institute, IRCCS Neuromed, Pozzilli, Italy.
Neurol Sci. 2000 Jun;21(3):129-34. doi: 10.1007/s100720070087.
We performed a clinical and genetic study of patients affected by cavernous angiomas (CA) of the nervous system. We examined initial signs and symptoms in sporadic and familial cases. We obtained clinical, neuroimaging and genetic data on 15 Italian patients with CA of the nervous system with positive, doubtful or apparently negative family history. Genetic markers surrounding three different gene regions (7q, 3q and 7p) were analysed. In one small family, genetic linkage was consistent with all chromosome loci. In another family with the unusual association of cerebral and spinal CA, linkage with chromosome 7q and, likely, 7p was excluded, while linkage with locus 3q was possible. Our results indicate that Italian families with CA may show genetic heterogeneity. Non-specific and subtle onset symptoms hide the presence of CA within families. Patients with multiple CA may have silent cerebral lesions confirming the low penetrance of clinical signs in spite of radiological ones.
我们对患有神经系统海绵状血管瘤（CA）的患者进行了一项临床和遗传学研究。我们检查了散发性和家族性病例的初始体征和症状。我们获取了15名患有神经系统CA的意大利患者的临床、神经影像学和遗传学数据，这些患者的家族史呈阳性、可疑或明显阴性。分析了围绕三个不同基因区域（7q、3q和7p）的遗传标记。在一个小家族中，遗传连锁与所有染色体位点一致。在另一个患有脑和脊髓CA异常关联的家族中，排除了与染色体7q以及可能与7p的连锁，而与3q位点的连锁是可能的。我们的结果表明，患有CA的意大利家族可能表现出遗传异质性。非特异性和细微的起病症状掩盖了家族中CA的存在。患有多发性CA的患者可能有隐匿性脑病变，这证实了尽管有影像学表现，但临床体征的低外显率。
