Establishing diagnostic criteria for Perry syndrome.
Establishing diagnostic criteria for Perry syndrome.
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DOI：
10.1136/jnnp-2017-316864
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发表时间：
2018-05
期刊：
影响因子：
--
通讯作者：
Tsuboi Y
中科院分区：
文献类型：
--
作者：
Mishima T;Fujioka S;Tomiyama H;Yabe I;Kurisaki R;Fujii N;Neshige R;Ross OA;Farrer MJ;Dickson DW;Wszolek ZK;Hattori N;Tsuboi Y
Perry综合征是一种以帕金森症、抑郁/冷漠、体重减轻、呼吸系统症状、DCTN1基因突变和TAR dna结合蛋白43 （TDP-43）病理为特征的疾病，旨在建立Perry综合征的国际诊断标准。在东京佩里综合征国际研讨会期间和之后，收集和分析了已发表文献和新确诊患者的数据，以确定佩里综合征的诊断标准。本研究纳入了来自20个家族的87例携带DCTN1突变的Perry综合征患者，并确定了该疾病的常见症状，包括帕金森病（95.2%的患者）、抑郁/冷漠（71.4%）、呼吸道症状（66.7%）和体重减轻（49.2%）。根据我们的研究结果，我们提出以下佩里综合征的明确诊断标准：佩里综合征的四个主要体征，伴随DCTN1突变；或有帕金森病、帕金森病和DCTN1突变的家族史；或出现四种主要体征和病理表现，包括神经神经元丢失和TDP-43病理。由于Perry综合征患者具有统一的临床、遗传和病理特征，我们进一步建议将该疾病命名为“Perry病”。
To establish international diagnostic criteria for Perry syndrome, a disorder characterised by clinical signs of parkinsonism, depression/apathy, weight loss, respiratory symptoms, mutations in the DCTN1 gene and TAR DNA-binding protein 43 (TDP-43) pathology. Data from the published literature and newly identified patients were gathered and analysed during and after the International Symposium on Perry syndrome in Tokyo to identify diagnostic criteria for Perry syndrome. Eighty-seven patients with Perry syndrome carrying DCTN1 mutations from 20 families were included in this study, and common signs of the disorder were identified, including parkinsonism (95.2% of patients), depression/apathy (71.4%), respiratory symptoms (66.7%) and weight loss (49.2%). Based on our findings, we propose the following definitive diagnostic criteria for Perry syndrome: the presence of four cardinal signs of Perry syndrome, accompanied by a mutation in DCTN1; or a family history of the disease, parkinsonism and a mutation in DCTN1; or the presence of four cardinal signs and pathological findings that include nigral neuronal loss and TDP-43 pathology. As patients with Perry syndrome present with uniform clinical, genetic and pathological features, we further propose the disorder be termed ‘Perry disease.’
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影响因子：
6
作者：
Daud D;Griffin H;Douroudis K;Kleinle S;Eglon G;Pyle A;Chinnery PF;Horvath R
通讯作者：
Horvath R
影响因子：
4.4
作者：
Aji, B. M.;Medley, G.;Alusi, S. H.
通讯作者：
Alusi, S. H.
影响因子：
30.8
作者：
Farrer MJ;Hulihan MM;Kachergus JM;Dächsel JC;Stoessl AJ;Grantier LL;Calne S;Calne DB;Lechevalier B;Chapon F;Tsuboi Y;Yamada T;Gutmann L;Elibol B;Bhatia KP;Wider C;Vilariño-Güell C;Ross OA;Brown LA;Castanedes-Casey M;Dickson DW;Wszolek ZK
通讯作者：
Wszolek ZK
影响因子：
4.1
作者：
Ohshima, Sachiko;Tsuboi, Yoshio;Shii, Hirofumi
通讯作者：
Shii, Hirofumi
影响因子：
11.2
作者：
PURDY, A;HAHN, A;PERRY, TL
通讯作者：
PERRY, TL