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Titolo:
Phenotypic correlations in FTDP-17
Autore:
Reed, LA; Wszolek, ZK; Hutton, M;
Indirizzi:
Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA Univ Minnesota Minneapolis MN USA 55455 Pathol, Minneapolis, MN 55455 USA Mayo Clin, Jacksonville, FL 32224 USA Mayo Clin Jacksonville FL USA 32224Mayo Clin, Jacksonville, FL 32224 USA
Titolo Testata:
NEUROBIOLOGY OF AGING
fascicolo: 1, volume: 22, anno: 2001,
pagine: 89 - 107
SICI:
0197-4580(200101/02)22:1<89:PCIF>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROGRESSIVE SUPRANUCLEAR PALSY; AUTOSOMAL-DOMINANT PARKINSONISM; FAMILIAL PRESENILE-DEMENTIA; PONTO-NIGRAL DEGENERATION; HEREDITARY FRONTOTEMPORAL DEMENTIA; PRIMARY NEURODEGENERATIVE DISEASE; MULTIPLE-SYSTEM TAUOPATHY; TAU-PROMOTER REGION; PROTEIN-TAU; ALZHEIMERS-DISEASE;
Keywords:
frontotemporal dementia; parkinsonism; tau; FTDP-17; hereditary neurodegenerative disease; alternative splicing;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
107
Recensione:
Indirizzi per estratti:
Indirizzo: Reed, LA Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA Univ Minnesota Minneapolis MN USA 55455 inneapolis, MN 55455 USA
Citazione:
L.A. Reed et al., "Phenotypic correlations in FTDP-17", NEUROBIOL A, 22(1), 2001, pp. 89-107

Abstract

Frontotemporal dementias with parkinsonism linked to chromosome 17 (FTDP-17) are hereditary tauopathies affecting at least 50 known kindred worldwide. Most kindred present with severe behavioral or psychiatric manifestationsprogressing to dementia, while some kindred first manifest a parkinsonian-plus syndrome. Nine missense mutations, one deletion mutation, and two transition mutations not altering the encoded amino acid, have been described in or near the microtubule-binding domains within exons 9, 10, 12, and 13. In addition, five different intronic mutations have been reported in the 5' splice-site of the alternatively spliced exon 10. Missense mutations affecting constitutively expressed exons affect all six major tan isoforms and result in neurofibrillary tangles similar to those present in secondary tauopathies, such as Alzheimer's disease. In contrast, mutations that affect thealternatively spliced exon 10 or its: 5' splice regulatory region alter the ratio of the tau isoforms incorporated into the tangles acid result in filamentous inclusions resembling those seen in the primary tauopathies, suchas progressive supranuclear palsy, corticobasal degeneration, and Pick's disease. The severity and heterogeneity of the clinicomorphologic phenotype may, in part, reflect the diversity in the primary molecular mechanisms of disease in FTDP-17. (C) 2001 Elsevier Science Inc. All rights reserved.

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Documento generato il 17/09/19 alle ore 23:09:22