NR AIZL
AU Oda,T.; Kitamoto,T.; Tateishi,J.; Mitsuhashi,T.; Iwabuchi,K.; Haga,C.; Oguni,E.; Kato,Y.; Tominaga,I.; Yanai,K.; Kashima,H.; Kogure,T.; Hori,K.; Ogino,K.
TI Prion disease with 144 base pair insertion in a Japanese family line
QU Acta Neuropathologica 1995; 90(1): 80-6
PT journal article
AB We describe an insert mutation in the prion protein (PrP) gene in a Japanese family line that encodes six octapeptide repeats. This is the second report to date of an inherited prion disease with a 144-base pair insertion, although the order of the repeat sequences differ from that reported for the disease in an English family line. The clinical features, like those of the English patients, were characterized by a slowly progressive generalized dementia with some neurological signs and cortical focal symptoms. Postmortem examination disclosed diffuse atrophy of cerebral gray matter and the cerebellar cortex; histologically, there were marked patchy and regional neuronal loss with astrocytosis in the frontal cortex, amygdala and hippocampus and PrP-immunoreactive plaques in the molecular layer of the cerebellum. These plaques were different from typical kuru plaques. The prion disease in the present Japanese family line is compared with that in the English family line.
IN Bei einer japanischen Familie verursacht eine Insertion von 144 Basenpaaren im Prionproteingen bzw. 6 Oktapeptiden im Prionprotein eine Prion-Krankheit mit langsam fortschreitender Demens, Neuronenverlust, Astrozytose und Prionplaques.
ZR 18
MH Adult; Base Sequence; Case Report; Cerebellum/pathology; *DNA Transposable Elements; Family; Female; Frontal Lobe/pathology; Hippocampus/pathology; Human; Japan; Male; Molecular Sequence Data; Mutation; Pedigree; Prion Diseases/*genetics/pathology; Tomography, X-Ray Computed
AD Tatsuo Kogure, Koji Hori, T. Oda, Department of Neuropsychiatry, National Shimofusa Sanatorium, 578 Heta-cho, Midori-ku, 266 Chiba, Japan JP; Tetsuyuki Kitamoto, Jun Tateishi, Department of Neuropathology, Neurological Institute, Kyushu University, Fukuoka, Japan JP; Tsukasa Mitsuhashi, Kohei Ogino, Department of Psychiatry, Kyorin University, Mitaka, Japan JP; Kiyoshi Iwabuchi, Chie Haga, Department of Neuropathology, Psychiatric Institute of Tokyo, Tokyo, Japan JP; Eiichi Oguni, Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Japan JP; Yuji Kato, Faculty of Sociology, University of Meiji-gakuin, Tokyo, Japan JP; Itaru Tominaga, Kiyoshi Yanai, Haruo Kashima, Department of Neuropsychiatry, School of Medicine, Keio University, Tokyo, Japan JP
SP englisch
PO Deutschland