Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin
Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin
复制标题
DOI：
10.1212/wnl.0b013e318251594c
复制
发表时间：
2012-04-01
期刊：
影响因子：
9.9
通讯作者：
Petersen, R.
中科院分区：
文献类型：
--
作者：
McDade, E.;Boeve, B. F.;Petersen, R.
目的：目的：研究单卵双胞胎中颗粒蛋白前体（PGRN）基因突变的表型特征。这对双胞胎都进行了临床和神经心理学检查以及结构MRI和氟脱氧葡萄糖PET（FDG-PET）扫描。PGRN基因测序，然后进行颗粒蛋白前体ELISA在plasma.Results：这对双胞胎表现出的症状在3年内的对方，与早期的行为，语言，执行障碍，记忆问题。MRI和FDG-PET成像显示了一个惊人的相似的地形图的结果与明确的左半球的优势。血清颗粒蛋白前体水平在这两个都远低于从正常人群samples.Conclusions：与在许多家庭与PGRN突变的异质性相比，这些单卵双胞胎表现出较强的临床，神经影像学和血清颗粒蛋白前体水平的相似性，表现出超越环境的影响，在疾病的症状表达的共享遗传谱的重要性。神经病学（R）2012;78：1245-1249
Objective: To report the phenotypic characterization of monozygotic twins with mutations encoding progranulin (PGRN).Methods: We studied a twin pair with an exon 4 gene deletion in the PGRN gene. Both twins had clinical and neuropsychological examinations as well as structural MRI and fluorodeoxyglucose PET (FDG-PET) scans. PGRN gene sequencing was performed followed by progranulin ELISA in plasma.Results: Both twins manifested symptoms within 3 years of each other, with early behavioral, language, dysexecutive, and memory problems. MRI and FDG-PET imaging demonstrated a strikingly similar topography of findings with clear left hemisphere predominance. Serum progranulin levels in both were well below those from a normal population sample.Conclusions: Compared with the heterogeneity seen in many families with PGRN mutations, these monozygotic twins demonstrated strong clinical, neuroimaging, and serum progranulin level similarities, demonstrating the importance of shared genetic profiles beyond environmental influences in the symptomatic expression of the disease. Neurology (R) 2012;78:1245-1249