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Titolo:
PRION DISEASE WITH 144-BASE-PAIR INSERTION IN A JAPANESE FAMILY LINE
Autore:
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;
Indirizzi:
NATL SHIMOFUSA SANATORIUM,DEPT NEUROPSYCHIAT,MIDORI KU,578 HETA CHO CHIBA 266 JAPAN KYUSHU UNIV,INST NEUROL,DEPT NEUROPATHOL FUKUOKA 812 JAPAN KYORIN UNIV,DEPT PSYCHIAT MITAKA TOKYO JAPAN TOKYO INST PSYCHIAT,DEPT NEUROPATHOL TOKYO JAPAN UNIV TSUKUBA,INST CLIN MED,DEPT NEUROL TSUKUBA IBARAKI 305 JAPAN UNIV MEIJI GAKUIN,FAC SOCIOL TOKYO JAPAN KEIO UNIV,SCH MED,DEPT NEUROPSYCHIAT TOKYO JAPAN
Titolo Testata:
Acta Neuropathologica
fascicolo: 1, volume: 90, anno: 1995,
pagine: 80 - 86
SICI:
0001-6322(1995)90:1<80:PDW1II>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
CREUTZFELDT-JAKOB-DISEASE; GERSTMANN-STRAUSSLER SYNDROME; CENTRAL-NERVOUS-SYSTEM; PROTEIN GENE; MUTATION; FEATURES;
Keywords:
PRION PROTEIN; PRION DISEASE; INSERT MUTATION;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
T. Oda et al., "PRION DISEASE WITH 144-BASE-PAIR INSERTION IN A JAPANESE FAMILY LINE", Acta Neuropathologica, 90(1), 1995, pp. 80-86

Abstract

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 in 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 16/07/20 alle ore 06:39:37