Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred:: Mutation of Parkin gene

被引：42

作者：

Nisipeanu, P ^{[1
]}

Inzelberg, R

Blumen, SC

Carasso, RL

Hattori, N

Matsumine, H

Mizuno, Y

机构：

[1] Hillel Yaffe Med Ctr, Dept Neurol, IL-38100 Hadera, Israel

[2] Tel Aviv Univ, Sackler Fac Med, Ramat Aviv, Israel

[3] Juntendo Univ, Sch Med, Tokyo 113, Japan

来源：

NEUROLOGY | 1999年 / 53卷 / 07期

关键词：

autosomal recessive juvenile parkinsonism; AR-JP; Parkin; Parkinson; familial; linkage; mutation; exon;

D O I：

10.1212/WNL.53.7.1602

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1602 / 1604

页数：3

共 10 条

[1] A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe [J].

Abbas, N ;

Lücking, CB ;

Ricard, S ;

Dürr, A ;

Bonifati, V ;

De Michele, G ;

Bouley, S ;

Vaughan, JR ;

Gasser, T ;

Marconi, R ;

Broussolle, E ;

Brefel-Courbon, C ;

Harhangi, BS ;

Oostra, AB ;

Fabrizio, E ;

Böhme, GA ;

Pradier, L ;

Wood, NW ;

Filla, A ;

Meco, G ;

Denefle, P ;

Agid, Y ;

Brice, A .

HUMAN MOLECULAR GENETICS, 1999, 8 (04) :567-574

[2] Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism:: Evidence for variable homozygous deletions in the Parkin gene in affected individuals [J].

Hattori, N ;

Kitada, T ;

Matsumine, H ;

Asakawa, S ;

Yamamura, Y ;

Yoshino, H ;

Kobayashi, T ;

Yokochi, M ;

Wang, M ;

Yoritaka, A ;

Kondo, T ;

Kuzuhara, S ;

Nakamura, S ;

Shimizu, N ;

Mizuno, Y .

ANNALS OF NEUROLOGY, 1998, 44 (06) :935-941

[3] Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism [J].

Ishikawa, A ;

Tsuji, S .

NEUROLOGY, 1996, 47 (01) :160-166

[4] Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: Detailed genetic mapping of the linked region [J].

Jones, AC ;

Yamamura, Y ;

Almasy, L ;

Bohlega, S ;

Elibol, B ;

Hubble, J ;

Kuzuhara, S ;

Uchida, M ;

Yanagi, T ;

Weeks, DE ;

Nygaard, TG .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (01) :80-87

[5] Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism [J].

Kitada, T ;

Asakawa, S ;

Hattori, N ;

Matsumine, H ;

Yamamura, Y ;

Minoshima, S ;

Yokochi, M ;

Mizuno, Y ;

Shimizu, N .

NATURE, 1998, 392 (6676) :605-608

[6]

Matsumine H, 1997, AM J HUM GENET, V60, P588

[7] Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism [J].

Matsumine, H ;

Yamamura, Y ;

Kobayashi, T ;

Nakamura, S ;

Kuzuhara, S ;

Mizuno, Y .

NEUROLOGY, 1998, 50 (05) :1340-1345

[8] A loss-of-function mechanism of nigral neuron death without Lewy body formation: autosomal recessive juvenile parkinsonism (AR-JP) [J].

Matsumine, H .

JOURNAL OF NEUROLOGY, 1998, 245 (Suppl 3) :P10-P14

[9] FAMILIAL JUVENILE PARKINSONISM - CLINICAL AND PATHOLOGICAL-STUDY IN A FAMILY [J].

TAKAHASHI, H ;

OHAMA, E ;

SUZUKI, S ;

HORIKAWA, Y ;

ISHIKAWA, A ;

MORITA, T ;

TSUJI, S ;

IKUTA, F .

NEUROLOGY, 1994, 44 (03) :437-441

[10] Chromosome 6-linked autosomal recessive early-onset parkinsonism:: Linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family [J].

Tassin, J ;

Dürr, A ;

de Broucker, T ;

Abbas, N ;

Bonifati, V ;

De Michele, G ;

Bonnet, AM ;

Broussolle, E ;

Pollak, P ;

Vidailhet, M ;

De Mari, M ;

Marconi, R ;

Medjbeur, S ;

Filla, A ;

Meco, G ;

Agid, Y ;

Brice, A .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (01) :88-94

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