Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Pelizaeus-Merzbacher disease: Three novel mutations and implication for locus heterogeneity
Autore:
Osaka, H; Kawanishi, C; Inoue, K; Onishi, H; Kobayashi, T; Sugiyama, N; Kosaka, K; Nezu, A; Fujii, K; Sugita, K; Kodama, K; Murayama, K; Murayama, S; Kanazawa, I; Kimura, S;
Indirizzi:
Yokohama City Univ, Sch Med, Dept Pediat, Yokohama, Kanagawa 232, Japan Yokohama City Univ Yokohama Kanagawa Japan 232 ohama, Kanagawa 232, Japan Yokohama City Univ, Sch Med, Dept Psychiat, Yokohama, Kanagawa 232, Japan Yokohama City Univ Yokohama Kanagawa Japan 232 ohama, Kanagawa 232, Japan Chiba Univ, Sch Med, Dept Pediat, Chiba, Japan Chiba Univ Chiba JapanChiba Univ, Sch Med, Dept Pediat, Chiba, Japan Univ Tokyo, Fac Med, Inst Brain Res, Dept Neurol, Tokyo 113, Japan Univ Tokyo Tokyo Japan 113 Inst Brain Res, Dept Neurol, Tokyo 113, Japan Natl Rehabil Ctr Disabled Children, Dept Pediat, Tokyo, Japan Natl RehabilCtr Disabled Children Tokyo Japan ept Pediat, Tokyo, Japan
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 1, volume: 45, anno: 1999,
pagine: 59 - 64
SICI:
0364-5134(199901)45:1<59:PDTNMA>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROTEOLIPID PROTEIN GENE; POINT MUTATION; CNS MYELIN; PLP GENE; MISSENSE MUTATION; TIGHT LINKAGE; MESSENGER-RNA; SPLICE-SITE; FAMILY; POLYMORPHISM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
53
Recensione:
Indirizzi per estratti:
Indirizzo: Osaka, H Univa,alif San Diego, Sch Med 0636, Dept Pharmacol, 9500 Gilman Dr, La Joll Univ Calif San Diego 9500 Gilman Dr La Jolla CA USA 92093 La Joll
Citazione:
H. Osaka et al., "Pelizaeus-Merzbacher disease: Three novel mutations and implication for locus heterogeneity", ANN NEUROL, 45(1), 1999, pp. 59-64

Abstract

We report a mutational and polymorphic analysis of the proteolipid proteingene in members of 27 Japanese families with Pelizaeus-Merzbacher disease. We found causative mutations in 6 members of 27 families (22.2%); 5 of the6 mutations, including two novel mutations, Leu(45)Arg and 231 + 2T --> G,resulted in the typically severe clinical symptoms. Paradoxically, the Cys(219)Tyr mutation, presumed to disrupt the tertiary structure of proteolipid protein by removing the disulfide bond between Cys(200) and Cys(219), wasassociated with a mild clinical presentation wherein the patient could walk with assistance and speak. It was inferred that the structural change prevented the toxicity associated with a gain of function mutation. Moreover, in one family 3 patients exhibited a intragenic polymorphism that did not segregate with the disease, suggesting a locus heterogeneity for Pelizaeus-Merzbacher disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 01:59:21