Role of parkin mutations in 111 community-based patients with early-onset parkinsonism

被引：105

作者：

Kann, M

Jacobs, H

Mohrmann, K

Schumacher, K

Hedrich, K

Garrels, J

Wiegers, K

Schwinger, E

Pramstaller, PP

Breakefield, XO

Ozelius, LJ

Vieregge, P

Klein, C

机构：

[1] Med Univ Lubeck, Neurol Klin, Dept Neurol, D-23538 Lubeck, Germany

[2] Med Univ Lubeck, Dept Human Genet, D-23538 Lubeck, Germany

[3] Hosp Rothenburg Wumme, Dept Neurol, Rothenburg, Germany

[4] Gen Reg Hosp Bolzano, Dept Neurol, Bolzano, Italy

[5] Massachusetts Gen Hosp, Dept Neurol, Mol Neurogenet Unit, Boston, MA 02114 USA

[6] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA

[7] Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10467 USA

[8] Lippe Lemgo Hosp, Lemgo, Germany

来源：

ANNALS OF NEUROLOGY | 2002年 / 51卷 / 05期

关键词：

D O I：

10.1002/ana.10179

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community-derived early-onset parkinsonism patients (age of onset <50 years) from Germany with an overall mutation rate of 9.0%. Gene dosage alterations represented 67% of the mutations found, underlining the importance of quantitative analyses of parkin. In summary, parkin mutations accounted for a low but significant percentage of early-onset parkinsonism patients in a community-derived sample.

引用

页码：621 / 625

页数：5

共 21 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] Dopa-responsive dystonia: A clinical and molecular genetic study [J].

Bandmann, O ;

Valente, EM ;

Holmans, P ;

Surtees, RAH ;

Walters, JH ;

Wevers, RA ;

Marsden, CD ;

Wood, NW .

ANNALS OF NEUROLOGY, 1998, 44 (04) :649-656

[3] THE RELEVANCE OF THE LEWY BODY TO THE PATHOGENESIS OF IDIOPATHIC PARKINSONS-DISEASE [J].

GIBB, WRG ;

LEES, AJ .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1988, 51 (06) :745-752

[4] 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

[5] The importance of gene dosage studies:: mutational analysis of the parkin gene in early-onset parkinsonism [J].

Hedrich, K ;

Kann, M ;

Lanthaler, AJ ;

Dalski, A ;

Eskelson, C ;

Landt, F ;

Schwinger, E ;

Vieregge, P ;

Lang, AE ;

Breakefield, XO ;

Ozelius, LJ ;

Pramstaller, PP ;

Klein, C .

HUMAN MOLECULAR GENETICS, 2001, 10 (16) :1649-1656

[6] Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity [J].

Imai, Y ;

Soda, M ;

Takahashi, R .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (46) :35661-35664

[7] An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of parkin [J].

Imai, Y ;

Soda, M ;

Inoue, H ;

Hattori, N ;

Mizuno, Y ;

Takahashi, R .

CELL, 2001, 105 (07) :891-902

[8] Personality traits in young patients with Parkinson's disease [J].

Jacobs, H ;

Heberlein, I ;

Vieregge, A ;

Vieregge, P .

ACTA NEUROLOGICA SCANDINAVICA, 2001, 103 (02) :82-87

[9] 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

[10]

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

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