TY -的T1 -佩里综合征的遗传疾病的临床和病理特征(p8 - 11.001) JF -神经学乔-神经学做- 10.1212 / WNL。首页0000000000203037六世- 100 - 17补充2 SP - 3123 AU -雅罗斯瓦夫Dulski AU - Shunsuke郎盟盟菲利普·蒂普顿山阿里AU -奥黛丽Strongosky AU -朱莉安娜玫瑰盟佐伊索箍AU - Judith多莫尔总督盟-丹尼斯·迪克森盟-兹比格涅夫•Wszolek Y1 - 2023/04/25 UR - //www.ez-admanager.com/content/100/17_Supplement_2/3123.abstract N2 -目标:提供一个更新基因,佩里综合症的临床和病理特征(PS)。首页背景:PS是一种罕见的遗传性神经退行性疾病,其特征是帕金森症,冷漠/抑郁,减肥,和肺换气不足,不同的分子(DCTN1突变位于外显子2 CAP-Gly域中)和神经病理(TDP-43病理学)特征。设计/方法:我们研究了27个成员国的大新的来自路易斯安那州的和孤立的情况下从弗吉尼亚。我们执行两个后期考试。结果:我们发现7例疑似PS的路易斯安娜州的家庭。第一症状是54岁的平均年龄,非症状(减肥,神经精神症状)最常见的最初表现。帕金森症出现在7/7,神经精神功能4/7,减肥的5/7,3/7的呼吸道症状,神经异常在4/7,7/7的患者的睡眠障碍。测试是不起眼的气味。小说渊源者,另一个例阳性DCTN1 p。Gly67Val CAP-Gly域中的突变;其他情况下的结果。与主要渊源者的尸体解剖证实TDP-43 proteinopathy pallido-nigro-luysial参与。The patient from Virginia developed apathy at 58 years, followed by depression, parkinsonism with upgaze limitation and pyramidal signs, weight loss, and pauses in breathing. She died at 69, and the pathological evaluation at autopsy revealed TDP-43 pathology with pallidonigral involvement, consistent with PS with known mutations in the DCTN1 gene. Her genetic testing found a novel DCTN1 Gly42Ser mutation, located on exon 2 but beyond the CAP-Gly domain. As her parents were not affected, we presume it was a de novo mutation.Conclusions: The heterogeneity of clinical and genetic characteristics of PS is increasingly recognized. Better understanding of the disease could translate into enhanced management strategy, improved quality of life, and extended life expectancy.Disclosure: Dr. Dulski has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for VM Media Ltd.. Dr. Dulski has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Radoslaw Lipinski 90 Consulting. Dr. Dulski has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Ipsen. Dr. Dulski has received research support from Polish Neurological Society. Dr. Dulski has received research support from Polish National Agency for Academic Exchange. Dr. Koga has nothing to disclose. Dr. Tipton has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AbbVie. Dr. Tipton has received personal compensation in the range of $500-$4,999 for serving as a Speaker with Alzheimer’s Tennessee. Dr. Tipton has received personal compensation in the range of $500-$4,999 for serving as a Speaker with Charlotte County Medical Society, Inc. Mr. Ali has nothing to disclose. Audrey Strongosky has nothing to disclose. Miss Rose has nothing to disclose. Ms. Parrales has nothing to disclose. Ms. Dunmore has nothing to disclose. Dr. Dickson has nothing to disclose. Dr. Wszolek has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Polish Neurological Society/Via Medica. ER -
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