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Titolo:
An inherited prion disease with a PrPP105L mutation - Clinicopathologic and PrP heterogeneity
Autore:
Yamada, M; Itoh, Y; Inaba, A; Wada, Y; Takashima, M; Satoh, S; Kamata, T; Okeda, R; Kayano, T; Suematsu, N; Kitamoto, T; Otomo, E; Matsushita, M; Mizusawa, H;
Indirizzi:
Tokyo Med & Dent Univ, Dept Neurol, Bunkyo Ku, Tokyo 1138519, Japan Tokyo Med & Dent Univ Tokyo Japan 1138519 unkyo Ku, Tokyo 1138519, Japan Tokyo Med & Dent Univ, Fac Med, Dept Neuropathol, Inst Med Res, Tokyo 1138519, Japan Tokyo Med & Dent Univ Tokyo Japan 1138519 Med Res, Tokyo 1138519, Japan Tokyo Med & Dent Univ, Fac Dent, Dept Oral Pathol, Tokyo 1138519, Japan Tokyo Med & Dent Univ Tokyo Japan 1138519 l Pathol, Tokyo 1138519, Japan Yokufukai Geriatr Hosp, Dept Internal Med, Tokyo, Japan Yokufukai Geriatr Hosp Tokyo Japan osp, Dept Internal Med, Tokyo, Japan Yokufukai Geriatr Hosp, Dept Pathol, Tokyo, Japan Yokufukai Geriatr Hosp Tokyo Japan iatr Hosp, Dept Pathol, Tokyo, Japan Tohoku Univ, Sch Med, Dept Neurol Sci, Sendai, Miyagi 980, Japan Tohoku Univ Sendai Miyagi Japan 980 Neurol Sci, Sendai, Miyagi 980, Japan Tokyo Inst Psychiat, Dept Neuropathol, Tokyo, Japan Tokyo Inst Psychiat Tokyo Japan sychiat, Dept Neuropathol, Tokyo, Japan
Titolo Testata:
NEUROLOGY
fascicolo: 1, volume: 53, anno: 1999,
pagine: 181 - 188
SICI:
0028-3878(19990713)53:1<181:AIPDWA>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
STRAUSSLER-SCHEINKER-DISEASE; CREUTZFELDT-JAKOB-DISEASE; PROTEIN GENE; NEUROFIBRILLARY TANGLES; CODON-129 POLYMORPHISM; AMYLOID DEPOSITS; VARIANT; FAMILY; PRNP; PHENOTYPES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Yamada, M Tokyo Med & Dent Univ, Dept Neurol, Bunkyo Ku, 1-5-45 Yushima, Tokyo 1138519, Japan Tokyo Med & Dent Univ 1-5-45 Yushima Tokyo Japan 1138519 Japan
Citazione:
M. Yamada et al., "An inherited prion disease with a PrPP105L mutation - Clinicopathologic and PrP heterogeneity", NEUROLOGY, 53(1), 1999, pp. 181-188

Abstract

Objective: To clarify a clinical and neuropathologic phenotype of an inherited prion disease associated with a missense mutation at codon 105 in the prion protein (PrP) gene that was originally described as a variant of Gerstmann-Straussler-Scheinker disease demonstrating spastic paraparesis. Methods: Two siblings from a Japanese family are described. PrP gene analyses, neuropathologic studies with immunohistochemistry, and Western blot analysisof the PrP were performed. Results: Both patients showed a missense (proline-->leucine) mutation at codon 105 and a methionine/valine polymorphism atcodon 129 of the PrP gene. Clinically, Patient 1 presented with progressive spastic: paraparesis, ataxia, and dementia. Patient 2, the sister of Patient 1, showed prominent action myoclonus and dementia. Neuropathologically,multiple PrP-positive amyloid plaques and diffuse PrP deposition in the deep cortical layers were found in the cerebral cortex with primarily frontaldominant atrophy in both patients. Tau-positive pathologic structures including neurofibrillary tangles, neuropil threads, and dystrophic neurites around the plaques were abundant in the brain of Patient 2. In contrast, the tau pathology was scarce in Patient 1. Western blot analysis of the brain showed different patterns of detergent-insoluble PrP fragments between the patients. Conclusions: Despite the identical codon 105 mutation and codon 129 polymorphism of the PrP gene, remarkable clinical and neuropathologic differences, and PrP heterogeneity were present between the affected siblings. The phenotypic variability might be related to PrP heterogeneity.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/03/20 alle ore 20:00:49