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Titolo:
Lhermitte-Duclos disease as a component of Cowden's syndrome - Case reportand review of the literature
Autore:
Koch, R; Scholz, M; Nelen, MR; Schwechheimer, K; Epplen, JT; Harders, AG;
Indirizzi:
Ruhrr,niv Bochum, Dept Neurosurg, Knappschaftskrankenhaus Bochum Langendree Ruhr Univ Bochum Bochum Germany D-44892 ftskrankenhaus Bochum Langendree Ruhr Univ Bochum, Dept Human Mol Genet, D-4630 Bochum, Germany Ruhr Univ Bochum Bochum Germany D-4630 Mol Genet, D-4630 Bochum, Germany Univ Nijmegen Hosp, Dept Neurol, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Univ Hosp Essen, Dept Neuropathol, Essen, Germany Univ Hosp Essen Essen Germany p Essen, Dept Neuropathol, Essen, Germany
Titolo Testata:
JOURNAL OF NEUROSURGERY
fascicolo: 4, volume: 90, anno: 1999,
pagine: 776 - 779
SICI:
0022-3085(199904)90:4<776:LDAACO>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
DYSPLASTIC GANGLIOCYTOMA; GERMLINE MUTATIONS; ASSOCIATION; CEREBELLUM; GENE; DIAGNOSIS;
Keywords:
Lhermitte-Duclos disease; cerebellar neoplasia; Cowden's syndrome; multiple hamartoma-neoplasia syndrome; tumor suppressor gene;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Koch, R Ruhrr,niv Bochum, Dept Neurosurg, Knappschaftskrankenhaus Bochum Langendree Ruhr Univ Bochum Schornau 23-25 Bochum Germany D-44892 Langendree
Citazione:
R. Koch et al., "Lhermitte-Duclos disease as a component of Cowden's syndrome - Case reportand review of the literature", J NEUROSURG, 90(4), 1999, pp. 776-779

Abstract

In recent years, 16 cases involving the association between Lhermitte-Duclos disease (LDB), which is a hamartomatous overgrowth of cerebellar tissue,and Cowden's syndrome (CS), an autosomal-dominant condition characterized by multiple hamartomas and neoplasias, have been reported. LDD may be one of the manifestations of CS. Recently, mutations of the PTEN/MMAC 1 gene, a tumor suppressor gene, have been found in families with CS, including four patients in whom LDD was diagnosed. The authors present a case of LDD in a 53-year-old woman who also had the typical mucocutaneaus lesions found in CS, as well as goiter and intestinal polyposis. In this case, CS had never been suspected until the diagnosis of LDD was made. The mutation detected inthe PTEN/MMAC I gene as well as neuropathological results are described.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/11/20 alle ore 10:59:57