Clinical features of familial moyamoya disease
Clinical features of familial moyamoya disease
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DOI：
10.1007/s00381-005-1230-5
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发表时间：
2006-03-01
影响因子：
1.4
通讯作者：
Iwasaki, Y
中科院分区：
文献类型：
--
作者：
Nanba, R;Kuroda, S;Iwasaki, Y
目的：通过比较家族性和散发性烟雾病的临床特点，揭示家族性烟雾病的致病基因，阐明烟雾病的遗传背景。方法：收集155例日本烟雾病患者，其中家族性病例24例(10个家系)，散发性病例131例。比较家族性和散发性病例的临床特点。结果与结论：家族性组中女性占优势明显高于散发性组(P=0.0421)。家族性病例的平均发病年龄显著低于散发性病例(P=0.004)。在8对亲子配对中，第二代的平均发病年龄显著低于第一代(P<；0.0001)。这些结果表明，家族性烟雾病与遗传预期和女性占优势有关，对扩大的三联体重复进行的基因分析研究可能会阐明该病的发病机制。
Objects: This study aims to clarify the genetic background of moyamoya disease by comparing clinical features between familial and sporadic cases to reveal the responsible genes for familial moyamoya disease. Methods: This study included 155 Japanese patients with moyamoya disease, which included 24 familial cases (10 family pedigrees) and 131 sporadic cases. Clinical features were compared between the familial and sporadic cases. Results and conclusions: A female preponderance was significantly more prominent in the familial than in the sporadic group (P=0.0421). Mean age at onset was significantly lower in familial than in sporadic cases (P=0.004). In eight parent-offspring pairs, mean age at onset was significantly lower in the second than in the first generation (P < 0.0001). These results suggest that familial moyamoya disease is associated with genetic anticipation and female predominance and that a genetic analysis study focused on expanded triplet repeats may clarify the pathogenesis of the disease.