JAMA Neurology ( IF 20.4 ) Pub Date : 2017-12-01 , DOI: 10.1001/jamaneurol.2017.3399
Charuta G. Furey 1, 2 , Andrew T. Timberlake 2, 3 , Carol Nelson-Williams 2 , Daniel Duran 1, 2 , Peining Li 2 , Eric M. Jackson 4 , Kristopher T. Kahle 1, 2
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Arachnoid cysts (ACs) are congenital fluid-filled malformations that account for approximately 1% of all intracranial, space-occupying lesions in the central nervous system.1 Despite an estimated prevalence of 1.4%, little is known about the pathogenesis of these presumed developmental anomalies of the arachnoid.2 The coincidence of ACs in known mendelian cystic disorders, such as autosomal dominant polycystic kidney disease,3 along with rare clinical reports of familial AC occurrence,4,5 suggests a genetic basis for the disorder. However, no gene or chromosomal abnormalities have been detected in familial intracranial AC. We present a familial form of isolated intracranial AC showing an X-linked dominant inheritance pattern and characterized by the presence of large, bilateral, and symmetric middle fossa ACs (Figure 1) in 4 family members of a nuclear kindred (Figure 2).
中文翻译:
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Xp22.2家族性颅内蛛网膜囊肿的染色体复制
蛛网膜囊肿(AC)是先天性液体填充畸形,约占中枢神经系统所有颅内占位性病变的1%。1尽管估计患病率为1.4%,但对这些假定的蛛网膜发育异常的发病机理知之甚少。2 AC的已知的孟德尔囊性病症,例如常染色体显性多囊性肾病,同时计数3与家族AC发生的罕见临床报告,沿着4 ,5提示该疾病的遗传基础。然而,在家族性颅内AC中未检测到基因或染色体异常。我们提出的家族形式的孤立颅内AC显示出X连锁的显性遗传模式,其特征是在一个核亲属的4个家庭成员中存在大的,双侧的和对称的中间窝AC(图1)(图2)。