Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution.

Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. Research Abstract Details 

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Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. Abstract Text:

Y Shiga,K Satoh,T Kitamoto,S Kanno,I Nakashima,S Sato,K Fujihara,H Takata,K Nobukuni,S Kuroda,H Takano,Y Umeda,H Konno,K Nagasato,A Satoh,Y Matsuda,M Hidaka,H Takahashi,Y Sano,K Kim,T Konishi,K Doh-Ura,T Sato,K Sasaki,Y Nakamura,M Yamada,H Mizusawa,Y Itoyama,Yusei Shiga,Katsuya Satoh,Tetsuyuki Kitamoto,Sigenori Kanno,Ichiro Nakashima,Shigeru Sato,Kazuo Fujihara,Hiroshi Takata,Keigo Nobukuni,Shigetoshi Kuroda,Hiroki Takano,Yoshitaka Umeda,Hidehiko Konno,Kunihiko Nagasato,Akira Satoh,Yoshito Matsuda,Mitsuru Hidaka,Hirokatsu Takahashi,Yasuteru Sano,Kang Kim,Takashi Konishi,Katsumi Doh-ura,Takeshi Sato,Kensuke Sasaki,Yoshikazu Nakamura,Masahito Yamada,Hidehiro Mizusawa,Yasuo Itoyama,Yusei Shiga,Katsuya Satoh,Tetsuyuki Kitamoto,Sigenori Kanno,Ichiro Nakashima,Shigeru Sato,Kazuo Fujihara,Hiroshi Takata,Keigo Nobukuni,Shigetoshi Kuroda,Hiroki Takano,Yoshitaka Umeda,Hidehiko Konno,Kunihiko Nagasato,Akira Satoh,Yoshito Matsuda,Mitsuru Hidaka,Hirokatsu Takahashi,Yasuteru Sano,Kang Kim,Takashi Konishi,Katsumi Doh-ura,Takeshi Sato,Kensuke Sasaki,Yoshikazu Nakamura,Masahito Yamada,Hidehiro Mizusawa,Yasuo Itoyama,

OBJECTIVE : To describe the clinical features of Creutzfeldt-Jakob disease with a substitution of arginine for methionine (M232R substitution) at codon 232 (CJD232) of the prion protein gene (PRNP). PATIENTS AND METHODS : We evaluated the clinical and laboratory features of 20 CJD232 patients: age of onset, initial symptoms, duration until becoming akinetic and mute, duration until occurrence of periodic sharp and wave complexes on EEG (PSWC), MRI findings, and the presence of CSF 14-3-3 protein. Immunohistochemically, prion protein (PrP) deposition was studied. RESULTS : None of the patients had a family history of CJD. We recognized two clinical phenotypes: a rapidly progressive type (rapidtype) and a slowly progressive type (slow-type). Out of 20 patients, 15 became akinetic and mute, demonstrated myoclonus, and showed PSWC within a mean duration of 3.1, 2.4, and 2.8 months, respectively (rapid-type). Five showed slowly progressive clinical courses (slow-type). Five became akinetic and mute and four demonstrated myoclonus within a mean duration of 20.6 and 15.3 months, respectively, which were significantly longer than those in the rapid-type. Only one demonstrated PSWC 13 months after the onset. Diffuse synaptic-type deposition was demonstrated in four rapidtype patients, and perivacuolar and diffuse synaptic-type deposition in two, and diffuse synaptic-type deposition in one slow-type patient. Three of 50 suspected but non-CJD patients had the M232R substitution. CONCLUSIONS : Patients with CJD232 had no family history like patients with sCJD, and showed two different clinical phenotypes in spite of having the same PRNP genotype. More studies are needed to determine whether M232R substitution causes the disease and influences the disease progression.

Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. Publishing Authors By Initials

Y Shiga,K Satoh,T Kitamoto,S Kanno,I Nakashima,S Sato,K Fujihara,H Takata,K Nobukuni,S Kuroda,H Takano,Y Umeda,H Konno,K Nagasato,A Satoh,Y Matsuda,M Hidaka,H Takahashi,Y Sano,K Kim,T Konishi,K Doh-Ura,T Sato,K Sasaki,Y Nakamura,M Yamada,H Mizusawa,Y Itoyama,Y Shiga,K Satoh,T Kitamoto,S Kanno,I Nakashima,S Sato,K Fujihara,H Takata,K Nobukuni,S Kuroda,H Takano,Y Umeda,H Konno,K Nagasato,A Satoh,Y Matsuda,M Hidaka,H Takahashi,Y Sano,K Kim,T Konishi,K Doh-ura,T Sato,K Sasaki,Y Nakamura,M Yamada,H Mizusawa,Y Itoyama,Y Shiga,K Satoh,T Kitamoto,S Kanno,I Nakashima,S Sato,K Fujihara,H Takata,K Nobukuni,S Kuroda,H Takano,Y Umeda,H Konno,K Nagasato,A Satoh,Y Matsuda,M Hidaka,H Takahashi,Y Sano,K Kim,T Konishi,K Doh-ura,T Sato,K Sasaki,Y Nakamura,M Yamada,H Mizusawa,Y Itoyama,

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Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Journal of neurology

VOLUME: 254

Page Numbers: 1509-17

Journal Abbreviation: J. Neurol.

ISSN: 0340-5354

DAY: 2

MONTH: 11

YEAR: 2007

Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. Information

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LANGUAGE: eng

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AFFILIATION: Dept. of Neurology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi,Aoba-ku, Sendai, 980-8574, Japan, yshiga@em.neurol.med.tohoku.ac.jp.

Country: Germany

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MEDLINETA: J Neurol

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