Parkin gene causing benign autosomal recessive juvenile parkinsonism

被引：30

作者：

Nisipeanu, P ^{[1
]}

Inzelberg, R

Mouch, SA

Carasso, RL

Blumen, SC

Zhang, J

Matsumine, H

Hattori, N

Mizuno, Y

机构：

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

[2] Hillel Yaffe Med Ctr, Dept Internal Med B, Hadera, Israel

[3] Technion Israel Inst Technol, Bruce Rappaport Fac Med, IL-31096 Haifa, Israel

[4] Juntendo Univ, Sch Med, Dept Neurol, Tokyo 113, Japan

来源：

NEUROLOGY | 2001年 / 56卷 / 11期

关键词：

D O I：

10.1212/WNL.56.11.1573

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Autosomal recessive juvenile parkinsonism (AR-JP) is an early-onset parkinsonism caused by exonic deletions or point mutations in the parkin gene. The relationship between the type of the genetic defect and the clinical presentation, the response to therapy, and the evolution have not been yet determined. The authors describe a single-basepair deletion at nucleotide 202 in exon 2 of the parkin gene in a kindred with a benign clinical course.

引用

页码：1573 / 1575

页数：3

共 12 条

[1] Degradation of α-synuclein by proteasome [J].

Bennett, MC ;

Bishop, JF ;

Leng, Y ;

Chock, PB ;

Chase, TN ;

Mouradian, MM .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (48) :33855-33858

[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] 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

[5]

Klein C, 2000, ANN NEUROL, V48, P65, DOI 10.1002/1531-8249(200007)48:1<65::AID-ANA10>3.0.CO

[6]

2-L

[7] Association between early-onset Parkinson's disease and mutations in the parkin gene [J].

Lücking, CB ;

Dürr, A ;

Bonifati, V ;

Vaughan, J ;

De Michele, G ;

Gasser, T ;

Harhangi, BS ;

Meco, G ;

Denèfle, P ;

Wood, NW ;

Agid, Y ;

Brice, A .

NEW ENGLAND JOURNAL OF MEDICINE, 2000, 342 (21) :1560-1567

[8] 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

[9] Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred:: Mutation of Parkin gene [J].

Nisipeanu, P ;

Inzelberg, R ;

Blumen, SC ;

Carasso, RL ;

Hattori, N ;

Matsumine, H ;

Mizuno, Y .

NEUROLOGY, 1999, 53 (07) :1602-1604

[10] Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase [J].

Shimura, H ;

Hattori, N ;

Kubo, S ;

Mizuno, Y ;

Asakawa, S ;

Minoshima, S ;

Shimizu, N ;

Iwai, K ;

Chiba, T ;

Tanaka, K ;

Suzuki, T .

NATURE GENETICS, 2000, 25 (03) :302-305

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