A case of M232R genetic Creutzfeldt-Jakob disease with Lewy bodies

被引：3

作者：

Akagi, Akio ^{[1
]}

Iwasaki, Yasushi ^{[1
]}

Hashimoto, Rina ^{[2
]}

Aiba, Ikuko ^{[2
]}

Inukai, Akira ^{[2
]}

Mimuro, Maya ^{[1
]}

Riku, Yuichi ^{[1
]}

Miyahara, Hiroaki ^{[1
]}

Kitamoto, Tetsuyuki ^{[3
]}

Yoshida, Mari ^{[1
]}

机构：

[1] Aichi Med Univ, Inst Med Sci Aging, Dept Neuropathol, Nagakute, Aichi, Japan

[2] Natl Hosp Org Higashinagoya Natl Hosp, Dept Neurol, Nagoya, Aichi, Japan

[3] Tohoku Univ, Grad Sch Med, Dept Neurol Sci, Sendai, Miyagi, Japan

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2020年 / 409卷

关键词：

Creutzfeldt-Jakob disease; M232R mutation; Lewy body disease; BODY DISEASE;

D O I：

10.1016/j.jns.2019.116605

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：3

共 10 条

[1] Incidental Lewy Body Disease: Clinical Comparison to a Control Cohort [J].

Adler, Charles H. ;

Connor, Donald J. ;

Hentz, Joseph G. ;

Sabbagh, Marwan N. ;

Caviness, John N. ;

Shill, Holly A. ;

Noble, Brie ;

Beach, Thomas G. .

MOVEMENT DISORDERS, 2010, 25 (05) :642-646

[2] Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation [J].

Beck, Jon ;

Collinge, John ;

Mead, Simon .

BRAIN, 2012, 135

[3] Coexistence of Creutzfeldt-Jakob disease, Lewy body disease, and Alzheimer's disease pathology: An autopsy case showing typical clinical features of Creutzfeldt-Jakob disease [J].

Haraguchi, Takashi ;

Terada, Seishi ;

Ishizu, Hideki ;

Sakai, Kenichi ;

Tanabe, Yasuyuki ;

Nagai, Taiji ;

Takata, Hiroshi ;

Nobukuni, Keigo ;

Ihara, Yuetsu ;

Kitamoto, Tetsuyuki ;

Kuroda, Shigetoshi .

NEUROPATHOLOGY, 2009, 29 (04) :454-459

[4] A patient with dementia with Lewy bodies and codon 232 mutation of PRNP [J].

Koide, T ;

Ohtake, H ;

Nakajima, T ;

Furukawa, H ;

Sakai, K ;

Kamei, H ;

Makifuchi, T ;

Fukuhara, N .

NEUROLOGY, 2002, 59 (10) :1619-1621

[5] Genetic prion disease:: the EUROCJD experience [J].

Kovács, GG ;

Puopolo, M ;

Ladogana, A ;

Pocchiari, M ;

Budka, H ;

van Duijn, C ;

Collins, SJ ;

Boyd, A ;

Giulivi, A ;

Coulthart, M ;

Delasnerie-Laupretre, N ;

Brandel, JP ;

Zerr, I ;

Kretzschmar, HA ;

de Pedro-Cuesta, J ;

Calero-Lara, M ;

Glatzel, M ;

Aguzzi, A ;

Bishop, M ;

Knight, R ;

Belay, G ;

Will, R ;

Mitrova, E .

HUMAN GENETICS, 2005, 118 (02) :166-174

[6] Quantifying prion disease penetrance using large population control cohorts [J].

Minikel, Eric Vallabh ;

Vallabh, Sonia M. ;

Lek, Monkol ;

Estrada, Karol ;

Samocha, Kaitlin E. ;

Sathirapongsasuti, J. Fah ;

McLean, Cory Y. ;

Tung, Joyce Y. ;

Yu, Linda P. C. ;

Gambetti, Pierluigi ;

Blevins, Janis ;

Zhang, Shulin ;

Cohen, Yvonne ;

Chen, Wei ;

Yamada, Masahito ;

Hamaguchi, Tsuyoshi ;

Sanjo, Nobuo ;

Mizusawa, Hidehiro ;

Nakamura, Yosikazu ;

Kitamoto, Tetsuyuki ;

Collins, Steven J. ;

Boyd, Alison ;

Will, Robert G. ;

Knight, Richard ;

Ponto, Claudia ;

Zerr, Inga ;

Kraus, Theo F. J. ;

Eigenbrod, Sabina ;

Giese, Armin ;

Calero, Miguel ;

de Pedro-Cuesta, Jesus ;

HaiK, Stephane ;

Laplanche, Jean-Louis ;

Bouaziz-Amar, Elodie ;

Brandel, Jean-Philippe ;

Capellari, Sabina ;

Parchi, Piero ;

Poleggi, Anna ;

Ladogana, Anna ;

O'Donnell-Luria, Anne H. ;

Karczewski, Konrad J. ;

Marshall, Jamie L. ;

Boehnke, Michael ;

Laakso, Markku ;

Mohlke, Karen L. ;

Kahler, Anna ;

Chambert, Kimberly ;

McCarroll, Steven ;

Sullivan, Patrick F. ;

Hultman, Christina M. .

SCIENCE TRANSLATIONAL MEDICINE, 2016, 8 (322)

[7] Reply: Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation [J].

Nozaki, Ichiro ;

Sakai, Kenji ;

Kitamoto, Tetsuyuki ;

Yamada, Masahito .

BRAIN, 2012, 135

[8] Prospective 10-year surveillance of human prion diseases in Japan [J].

Nozaki, Ichiro ;

Hamaguchi, Tsuyoshi ;

Sanjo, Nobuo ;

Noguchi-Shinohara, Moeko ;

Sakai, Kenji ;

Nakamura, Yosikazu ;

Sato, Takeshi ;

Kitamoto, Tetsuyuki ;

Mizusawa, Hidehiro ;

Moriwaka, Fumio ;

Shiga, Yusei ;

Kuroiwa, Yoshiyuki ;

Nishizawa, Masatoyo ;

Kuzuhara, Shigeki ;

Inuzuka, Takashi ;

Takeda, Masatoshi ;

Kuroda, Shigetoshi ;

Abe, Koji ;

Murai, Hiroyuki ;

Murayama, Shigeo ;

Tateishi, Jun ;

Takumi, Ichiro ;

Shirabe, Susumu ;

Harada, Masafumi ;

Sadakane, Atsuko ;

Yamada, Masahito .

BRAIN, 2010, 133 :3043-3057

[9] Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution [J].

Shiga, Yusei ;

Satoh, Katsuya ;

Kitamoto, Tetsuyuki ;

Kanno, Sigenori ;

Nakashima, Ichiro ;

Sato, Shigeru ;

Fujihara, Kazuo ;

Takata, Hiroshi ;

Nobukuni, Keigo ;

Kuroda, Shigetoshi ;

Takano, Hiroki ;

Umeda, Yoshitaka ;

Konno, Hidehiko ;

Nagasato, Kunihiko ;

Satoh, Akira ;

Matsuda, Yoshito ;

Hidaka, Mitsuru ;

Takahashi, Hirokatsu ;

Sano, Yasuteru ;

Kim, Kang ;

Konishi, Takashi ;

Doh-ura, Katsumi ;

Sato, Takeshi ;

Sasaki, Kensuke ;

Nakamura, Yoshikazu ;

Yamada, Masahito ;

Mizusawa, Hidehiro ;

Itoyama, Yasuto .

JOURNAL OF NEUROLOGY, 2007, 254 (11) :1509-1517

[10] Clinical Overlap between Jakob-Creutzfeldt Disease and Lewy Body Disease [J].

Tartaglia, Maria Carmela ;

Johnson, David Y. ;

Julie Ngoc Thai ;

Cattaruzza, Tatiana ;

Wong, Katherine ;

Garcia, Paul ;

DeArmond, Stephen J. ;

Miller, Bruce L. ;

Geschwind, Michael D. .

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2012, 39 (03) :304-310

← 1 →