DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients

被引：10

作者：

Sironi, Francesca ^{[1
]}

Primignani, Paola ^{[1
]}

Ricca, Sara ^{[1
]}

Tunesi, Sara ^{[2
]}

Zini, Michela ^{[3
]}

Tesei, Silvana ^{[3
]}

Cilia, Roberto ^{[3
]}

Pezzoli, Gianni ^{[3
]}

Seia, Manuela ^{[1
]}

Goldwurm, Stefano ^{[3
]}

机构：

[1] Fdn IRCCS Osped Maggiore Policlin Mangiagalli & R, Med Genet Lab, Milan, Italy

[2] Univ Milan, Inst Med Stat & Biometry GA Maccaro, Milan, Italy

[3] Ist Clin Perfezionamento, Parkinson Inst, I-20126 Milan, Italy

来源：

NEUROSCIENCE LETTERS | 2013年 / 557卷

关键词：

DJ1; Early Onset Parkinson Disease; Mutation analysis; MUTATION ANALYSIS; DJ-1; MUTATIONS; PINK1; GENES; PARK7; RARE;

D O I：

10.1016/j.neulet.2013.10.048

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

We analyzed the DJ1 gene in a large consecutive series (N= 163) of Italian unrelated Early Onset Parkinson Disease (EOPD: onset <= 40 years of age) patients and 100 healthy controls (mean age 64 +/- 7 years). No homozygous or compound heterozygous mutations with an obvious pathogenic effect were found. Several variants were identified, some of which were novels. All variants had similar frequency in patients and in controls. Our data suggest that DJ1 mutations are very rare in Italian EOPD. Other genes and risk factors for PD are still to be identified. (C) 2013 The Authors. Published by Elsevier Ireland Ltd. Open access underCC BY-NC-SA license

引用

页码：165 / 170

页数：6

共 50 条

[41] Mutations in DJ-1 are rare in familial Parkinson disease
Pankratz, Nathan
Pauciulo, Michael W.
Elsaesser, Veronika E.
Marek, Diane K.
Halter, Cheryl A.
Wojcieszek, Joanne
Rudolph, Alice
Shults, Clifford W.
Foroud, Tatiana
Nichols, William C.
NEUROSCIENCE LETTERS, 2006, 408 (03) : 209 - 213
[42] Evaluating intra-genetic variants of DJ-1 among Parkinson's disease patients of Eastern India
Sanyal, Jaya
Sarkar, Biswanath
Banerjee, Tapas Kumar
Mukherjee, Subhash Chandra
Ray, Bidhan Chandra
Rao, V. Raghavendra
NEUROLOGICAL RESEARCH, 2011, 33 (04) : 349 - 353
[43] Neuroprotective role and mechanistic insights of DJ-1 dimerization in Parkinson's disease
Lv, Lingling
Zhang, Hainan
Tan, Jieqiong
Wang, Chunyu
CELL COMMUNICATION AND SIGNALING, 2025, 23 (01)
[44] Mutation Analysis of Parkin, PINK1, DJ-1 and ATP13A2 Genes in Chinese Patients with Autosomal Recessive Early-Onset Parkinsonism
Guo, Ji-Feng
Xiao, Bin
Liao, Bing
Zhang, Xue-Wei
Nie, Li-Luo
Zhang, Yu-Hu
Shen, Lu
Jiang, Hong
Xia, Kun
Pan, Qian
Yan, Xin-XIang
Tang, Bei-Sha
MOVEMENT DISORDERS, 2008, 23 (14) : 2074 - 2079
[45] Genetic study of early-onset Parkinson's disease in the Malaysian population
Tay, Yi Wen
Tan, Ai Huey
Lim, Jia Lun
Lohmann, Katja
Ibrahim, Khairul Azmi
Aziz, Zariah Abdul
Chin, Yen Theng
Mawardi, Ahmad Shahir
Lim, Thien Thien
Looi, Irene
Chia, Yuen Kang
Ooi, Joshua Chin Ern
Cheah, Wee Kooi
Closas, Alfand Marl F. Dy
Lit, Lei Cheng
Hor, Jia Wei
Toh, Tzi Shin
Muthusamy, Kalai Arasu
Bauer, Peter
Skrahin, Volha
Rolfs, Arndt
Klein, Christine
Ahmad-Annuar, Azlina
Lim, Shen-Yang
PARKINSONISM & RELATED DISORDERS, 2023, 111
[46] Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease
Do, Minh Duc
Tran, Tai Ngoc
Luong, An Bac
Le, Linh Hoang Gia
Le, Tuan Van
Le, Khuong Thai
Vo, Niem Thanh Van
Le, Thuc-Nhi Nguyen
Vu, Hoang Anh
Mai, Thao Phuong
BRAIN AND BEHAVIOR, 2023, 13 (04):
[47] DJ-1: A new comer in Parkinson's disease pathology
da Costa, Cristine Alves
CURRENT MOLECULAR MEDICINE, 2007, 7 (07) : 650 - 657
[48] Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China
Li, Hongyan
Yusufujiang, Aishanjiang
Naser, Shaliya
Zhu, Yi
Maimaiti, Mayinur
He, Xiaoyan
Bu, Juan
Meng, Xuegang
Wang, Mingyuan
Li, Jiang
Dina, Baiting
Yang, Lijuan
Nayi, Zuhere
Dang, Hui
Wang, Chengfeng
Amiti, Dilimulati
Aji, Asiya
Yusufu, Nazuke
Jiao, Yan
Duan, Fengmei
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2014, 342 (1-2) : 21 - 24
[49] Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients
Koziorowski, Dariusz
Hoffman-Zacharska, Dorota
Slawek, Jaroslaw
Jamrozik, Zygmunt
Janik, Piotr
Potulska-Chromik, Anna
Roszmann, Anna
Tataj, Renato
Bal, Jerzy
Friedman, Andrzej
NEUROLOGIA I NEUROCHIRURGIA POLSKA, 2013, 47 (04) : 319 - 324
[50] A new evolutionary paradigm for the Parkinson disease gene DJ-1
Lucas, J. Ignasi
Marin, Ignacio
MOLECULAR BIOLOGY AND EVOLUTION, 2007, 24 (02) : 551 - 561

← 1 2 3 4 5 →