Prion and Prion-like Diseases in Humans

نویسندگان

  • Eva Bagyinszky
  • Jae-Won Jang
  • Young Ho Park
  • Young Chul Youn
  • Seong Soo A. An
  • SangYun Kim
  • Maria Cramm
  • Matthias Schmitz
  • Andre Karch
  • Allen Herbst
  • Robert Cunningham
  • Debbie McKenzie
  • Lingjun Li
  • Judd Aiken
  • Jae W. Kim
  • Yong S. Kim
  • K.W. Park
  • Jae Wook Hyeon
  • Jeongmin Lee
  • Jun Sun Park
  • Kyu Jam Hwang
  • Sol Moe Lee
  • Chi-Kyeong Kim
  • Sang Ho Choi
  • Young Ran Ju
  • Su Yeon Kim
  • Christina D. Orru
  • Matilde Bongianni
  • Giovanni Tonoli
  • Sergio Ferrari
  • Andrew Hughson
  • Maurizio Pocchiari
  • Salvatore Monaco
  • Byron Caughey
  • Gianluigi Zanusso
  • Lisa Podhorodecki
  • Debra Godal
  • Kristen Avery
  • Angela Sloan
  • Robert Vendramelli
  • Keding Cheng
  • Lise Lamoureux
  • Sharon Simon
  • David Knox
  • Claudia Ponto
  • Carlos Romero
  • Anna Taratuto
  • André Karch
  • Inga Zerr
  • Mohsin Shafiq
  • Saima Zafar
  • Matthias Schmitz
  • Nadeem Sheikh
  • Katharina Stoeck
  • Matthias Schmitz
  • Christian Schmidt
  • Inga Zerr
  • José E. Cunha
  • Aline E. Vasconcelos
  • João R. Oliveira
  • Rosalie B. Belian
  • Diane L. Ritchie
  • Paul Brown
  • Susan Gibson
  • Thomas R. Kreil
  • Christian Abee
  • James W. Ironside
  • Liuting Qing
  • Qingzhong Kong
  • Claudia A. Madampage
  • Ryan A. Maddox
  • Robert C. Holman
  • Arialdi M. Minino
  • Janis E. Blevins
  • Lawrence B. Schonberger
  • Ermias D. Belay
  • Anna Molesworth
  • Phil Yates
  • Patricia Hewitt
  • Jan Mackenzie
  • James Ironside
  • Hester Ward
  • Jennifer Thorpe
  • Charles Hay
  • Gerard Dolan
  • Ben Palmer
  • Mike Makris
  • Patricia Hewitt
  • Peter Adlard
  • Simon Mead
  • Jan MacKenzie
  • James Ironside
  • Linda McCardle
  • Oliver Blatchford
  • Caroline Creasey
  • Annette Rankin
  • Katy Sinka
  • Zheng Wang
  • Gerard H. Jansen
  • Elina Olsen
  • Rolande D’Amour
  • Stacy Sabourin
  • Tim Connolly
  • Jennifer Kruse
  • Neil Cashman
  • Michael Coulthart
  • Jean-Philippe Brandel
  • Gabriella Marcon
  • Mathieu Coudert
  • Mauro Tettamanti
  • Arlette Welaratne
  • Georgio Giacone
  • Shohreh Azimi
  • Vladimiro Pietrini
  • Jean-Roch Fabreguettes
  • Daniele Imperiale
  • Christophe Aucan
  • Ugo Lucca
  • Alain Mallet
  • Mario Salmona
  • Inga Zerr
  • Veronica Redaelli
  • Gianluigi Forloni
  • Stéphane Haik
  • Fabrizio Tagliavini
  • Martin Dacles
  • David B. Berry
  • Duo Lu
  • Michal Geva
  • David V. Glidden
  • Joel C. Watts
  • Sumita Bhardwaj
  • Abby Oehler
  • Stephen J. DeArmond
  • Stanley B. Prusiner
  • Kurt Giles
  • Anna Grindatto
  • Andrea Perota
  • Maria Novella Chieppa
  • Elena Vallino Costassa
  • Silvia Colleoni
  • Monica Lo Faro
  • Roberto Duchi
  • Claudia Palmitessa
  • Irina Lagutina
  • Massimo Tortarolo
  • Giovanna Lazzari
  • Franco Lucchini
  • Caterina Bendotti
  • Cristiano Corona
  • Cesare Galli
  • Cristina Casalone
  • Robert C. Holman
  • Ryan A. Maddox
  • Arianne M. Folkema
  • Arialdi M. Minino
  • Ermias D. Belay
  • Lawrence B. Schonberger
  • Byoung-Hak Jeon
  • Hae-Kwan Cheong
  • Soo Eun Chung
  • Soo Chul Park
  • Sang Yun Kim
  • Dong-Woo Lee
  • Si-Heon Kim
  • Young-Teak Kim
  • Je-Geun Chi
  • Jinseob Kim
  • Kang Hyun Kim
  • Mohammad Jodeiri
  • Kamran Ghaedi
  • Abbas Kiani
  • Young Ho Park
  • Jae-Won Jang
  • Eva Bagyinszky
  • Young Chul Youn
  • Jung E. Kim
  • Seong Soo A. An
  • SangYun Kim
  • Jennifer Louth
  • Mark J. Thompson
  • Caroline Evans
  • Phillip C. Wright
  • Paul Heath
  • Jorge M. Valencia Delagadillo
  • Val Gillet
  • Beining Chen
  • Henrike Manthey
  • C. Ponto
  • F. Finke
  • A. Karch
  • I. Zerr
  • Alexander H. Peden
  • Casper Jansen
  • Annemieke J. Rozemuller
  • Mark W. Head
  • Beata Sikorska
  • Pawel P. Liberski
  • Carole Kelly
  • Noel Gill
  • Sebastian Brandner
  • Yvonne Spencer
  • Reza Dabaghian
  • Simon Mead
  • Patricia L. Leighton
  • W. Ted Allison
  • Amandeep S. Arora
  • Saima Zafar
  • Kiran Aslam
  • Tony Hazbun
  • Maxime Béland
  • Xavier Roucou
  • David V. Glidden
  • Abby Oehler
  • Amrit S. Boese
  • Yulian Niu
  • Stephanie A. Booth
  • Michele Fiorini
  • Michele Di Bari
  • Romolo Nonno
  • Roberta Galeno
  • Marco Sbriccoli
  • Franco Cardone
  • Silvia Graziano
  • Loredana Ingrosso
  • Geraldina Ricciardi
  • Angelina Valanzano
  • Anna Poleggi
  • Ramona Vinci
  • Anna Ladogana
  • Maria Puopolo
  • Salvatore Monaco
  • Umberto Agrimi
  • Maurizio Pocchiari
  • Gianluigi Zanusso
  • Taek-Kyun Kim
  • Inyoul Lee
  • Ji-Hoon Cho
  • Andrew Keller
  • Brenda Canine
  • Nathan Price
  • Daehee Hwang
  • George Carlson
  • Leroy Hood
  • Lars Lüers
  • Oliver Bannach
  • Detlev Riesner
  • Dieter Willbold
  • Eva Birkmann
  • Anna Majer
  • Robert C. Mercer
  • Li Ma
  • Joel C. Watts
  • Bob Strome
  • Serene L. Wohlgemuth
  • Jing Yang
  • Neil R. Cashman
  • Michael B. Coulthart
  • Gerold Schmitt-Ulms
  • Jack Jhamandas
  • David Westaway
  • Mohadeseh Mehrabian
  • Sepehr Ehsani
  • Cosmin L. Pocanschi
  • Hansen Wang
  • Glen K. Andrews
  • Jake Pushie
  • David Westaway
  • Gerold Schmitt-Ulms
  • Sara Schuhmann
  • Michael J. Stobart
  • Simone Brunet
  • Sharon L. Simon
  • Catherine Graham
  • Stefanie Czub
  • Kamilla Kosciuczyk
  • J D. Knox
  • Waqas Tahir
  • Stefan Nesslar
  • Aman D. Arora
  • Mathias Schmitz
  • Christine Stadelmann
  • Deborah E. Cabin
  • Dan Zou
  • Leslie I. Grad
  • Justin J. Yerbury
  • Bradley J. Turner
  • Will C. Guest
  • Eddie Pokrishevsky
  • Megan A. O’Neill
  • Anat Yanai
  • Judith M. Silverman
  • Rafaa Zeineddine
  • Lisa Corcoran
  • Janet R. Kumita
  • Leila Luheshi
  • Masoud Yousefi
  • Bradley M. Coleman
  • Andrew F. Hill
  • Steven S. Plotkin
  • Neil R. Cashman
  • Dilshan S. Harischandra
  • Nikhil Panicker
  • Matthew Neal
  • Huajun Jin
  • Arthi Kanthasamy
  • Vellareddy Anantharam
  • Anumantha G. Kanthasamy
  • Matthew P. Jackson
  • Jenifer Louth
  • Barbara Ciani
  • Giuseppe Legname
  • Rodrigo Morales
  • Claudia Duran-Aniotz
  • Ines Moreno-Gonzalez
  • Ping Ping Hu
  • Claudio Soto
  • Masatoshi Oshita
  • Michael Carpenter
  • Takashi Yokoyama
  • Masatoshi Oshita
  • Yumiko Takei
  • James W. Ironside
  • Tetsuyuki Kitamoto
  • Masanori Morita
  • Kerry W.S. Ko
  • Peter Mastrangelo
  • Laura C. Edwards-Ingram
  • Fred Mast
  • David Vergote
  • Paul E. Fraser
  • Peter St.George-Hyslop
  • Gary Eitzen
چکیده

Introduction. Genetic prion diseases, such as Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker disease (GSS), Fatal Familial Insomnia (FFI), are associated with the mutations of prion (PRNP) gene. More than 30 pathogenic PRNP mutations were identified. Since Alzheimer disease (AD) and prion diseases have many similarities in the neuropathological and physiological symptoms, we tested 89 Korean patients with different neurodegenerative disorders, AD, CJD, Parkinson disease (PD), Mild cognitive impairment (MCI) and Frontotemporal dementia (FTD), for prion mutations. Materials and Methods. In total, 89 dementia patients under 60 y of age were screened for prion mutation, 45 AD patients, 8 FTD patients, 1 PD patients, 15 MCI patients, 11 patients with subjective memory impairment, 3 patients with vascular cognitive impairment, 1 CJD patients, 3 normal person (kin to the dementia patient), 1 patients with transient global amnesia and 1 patient with Hashimoto encephalopathy. The coding region (exon2) of PRNP gene was amplified by PCR, and PCR products were purified by specific kit. Both of the 5′ and 3′ bands of the PCR amplicons were sequenced. Results. We detected three pathogenic prion mutations among 89 dementia patients. Glu200Lys was found in two patients, whom were clinically diagnosed as AD previously. Met232Arg was detected in four patients, where 2 among 4 were clinically diagnosed as MCI patients, one with AD patient and one with normal individual. Val180Ile was also reported in one clinically diagnosed AD patient. Conclusion. Both Met232Arg and Val180Ile are associated with familial or sporadic CJD in Korea and Japan. Met232Arg might be involved in other kind of dementia too, because it was described in a Japanese patient with Dementia with Lewy bodies (DLB). Val180Ile was found in a CJD patient with Alzheimer type pathology in Japan. The effects of prion mutations seem to be heterogeneous. Hence, it might be possible that PRNP could be a potential risk factor for AD. There is another option that these patients might be CJD patients. Our findings suggest that genetic analysis could improve the differential diagnosis of dementia and the genetic testing for prion mutations should be important for dementia patients.

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عنوان ژورنال:

دوره 7  شماره 

صفحات  -

تاریخ انتشار 2013