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Titolo:
Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: Mutation of Parkin gene
Autore:
Nisipeanu, P; Inzelberg, R; Blumen, SC; Carasso, RL; Hattori, N; Matsumine, H; Mizuno, Y;
Indirizzi:
Hillel Yaffe Med Ctr, Dept Neurol, IL-38100 Hadera, Israel Hillel Yaffe Med Ctr Hadera Israel IL-38100 rol, IL-38100 Hadera, Israel Tel Aviv Univ, Sackler Fac Med, Ramat Aviv, Israel Tel Aviv Univ Ramat Aviv Israel iv, Sackler Fac Med, Ramat Aviv, Israel Juntendo Univ, Sch Med, Tokyo 113, Japan Juntendo Univ Tokyo Japan 113Juntendo Univ, Sch Med, Tokyo 113, Japan
Titolo Testata:
NEUROLOGY
fascicolo: 7, volume: 53, anno: 1999,
pagine: 1602 - 1604
SICI:
0028-3878(19991022)53:7<1602:AJPIAJ>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
EARLY-ONSET PARKINSONISM; JAPANESE FAMILIES; MAPS;
Keywords:
autosomal recessive juvenile parkinsonism; AR-JP; Parkin; Parkinson; familial; linkage; mutation; exon;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Nisipeanu, P Hillel Yaffe Med Ctr, Dept Neurol, IL-38100 Hadera, Israel Hillel Yaffe Med Ctr Hadera Israel IL-38100 Hadera, Israel
Citazione:
P. Nisipeanu et al., "Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: Mutation of Parkin gene", NEUROLOGY, 53(7), 1999, pp. 1602-1604

Abstract

We report a Jewish family of Yemenite origin in which three brothers born from a consanguineous marriage had juvenile parkinsonism. The DNA samples from three affected brothers and one healthy brother were analyzed for the linkage to markers covering the autosomal-recessive juvenile parkinsonism (AR-JP) locus. A perfect homozygous cosegregation to the markers was found, giving a maximal lod score of 3.11 at D6S1579, D6S305, and D6S411, all of which are 0 cm apart from each other (nonparametric linkage score, 8.041; p =0.000977). Exon 3 of the Parkin gene was homozygously deleted in all patients. The AR-JP gene also exists in the Jewish population.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/09/20 alle ore 16:09:09