RT期刊文章SR电子T1全面表型比利时入库单创始人家族的描述和遗传发病年龄修饰符(P1.085)摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP P1.085 VO 88是16补充A1萨拉范Mossevelde A1 Eline“A1安妮Sieben A1维亚•克首页里斯泰尔Sleegers A1伊尔丝Gijselinck A1斯蒂芬妮Philtjens A1蒂姆·范Langenhove A1马修Vandenbulcke A1帕特里克耐腐蚀合金A1帕特里克Santens A1 A1简·德·布里克Vandenberghe A1 Adrian Ivanoiu A1 Jan Versijpt A1 Roeland Crols A1彼得·p·德走的A1朱莉Marc Van der Zee A1水平巷道A1 Sebastiaan Engelborghs A1 Christine Van Broeckhoven年2017 UL //www.ez-admanager.com/content/88/16_Supplement/P1.085.abstract AB目的:深入描述患者的临床和病理特征属于比利时入库单创始人家族组成的29家分行。研究已知的遗传风险变异的影响对疾病发病的年龄。背景:入库单g。-3826 g > C (IVS1 + 5 g > C)突变之前与额颞叶痴呆和比利时创始人家族相关的神经退行性疾病。这种突变可以减少50%导致haploinsufficiency入库单表达式。设计/方法:生物材料用于175亲属其中有79把入库单创始人突变。临床诊断和发病年龄数据可供43运营商的38个详细的医疗记录。大脑和神经病理学尸检报告的11个病人。入库单创始人病人与病人携带另一个入库单突变相比,C9orf72扩张或aTBK1突变。各种候选人疾病的遗传屏幕修饰符。结果:43入库单创始人患者平均发病年龄为61.2±7.3年(45 - 76)和平均疾病持续时间5.5±2.2年。 Onset ages were later and disease durations shorter than C9orf72 carriers and comparable to TBK1 carriers. The majority was diagnosed with FTD (74.4%), with a relative higher frequency of the language variant in comparison to C9orf72 carriers. Psychiatric features were less frequently reported in GRN carriers than in C9orf72 and TBK1 carriers. Neuroimaging showed considerable vascular white matter changes more often in GRN carriers than in C9orf72 carriers. The neuropathology was compatible with FTLD-TDP type A with a significant occurrence of atherosclerotic small vessel changes. Carriers of the genetic GRN rs5848 variant, developed disease on average 3.5 years earlier.Conclusions: The clinical and neuropathological phenotype of the GRN founder mutation is comparable to previous descriptions for GRN mutation carriers. Our data confirmed the GRN rs5848 variant as an onset age genetic modifier in the Belgian founder family.Disclosure: Dr. Van Mossevelde has nothing to disclose. Dr. Wauters has nothing to disclose. Dr. Sieben has nothing to disclose. Dr. Sleegers has nothing to disclose. Dr. Gijselinck has nothing to disclose. Dr. Philtjens has nothing to disclose. Dr. Van Langenhove has nothing to disclose. Dr. Vandenbulcke has nothing to disclose. Dr. Cras has nothing to disclose. Dr. Santens has nothing to disclose. Dr. De Bleecker has nothing to disclose. Dr. Vandenberghe has nothing to disclose. Dr. Ivanoiu has nothing to disclose. Dr. Versijpt has nothing to disclose. Dr. Crols has nothing to disclose. Dr. De Deyn has nothing to disclose. Dr. van der Zee has nothing to disclose. Dr. Cruts has nothing to disclose. Dr. Engelborghs has nothing to disclose. Dr. Van Broeckhoven has nothing to disclose.

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