DCTN1 mutations in Perry syndrome

被引：236

作者：

Farrer, Matthew J. ^{[1
]}

Hulihan, Mary M. ^{[1
]}

Kachergus, Jennifer M. ^{[1
]}

Dachsel, Justus C. ^{[1
]}

Stoessl, A. Jon ^{[2
]}

Grantier, Linda L. ^{[2
]}

Calne, Susan ^{[2
]}

Calne, Donald B. ^{[2
]}

Lechevalier, Bernard ^{[3
,4
]}

Chapon, Francoise ^{[3
,4
]}

Tsuboi, Yoshio ^{[5
]}

Yamada, Tatsuo ^{[5
]}

Gutmann, Ludwig ^{[6
]}

Elibol, Buelent ^{[7
]}

Bhatia, Kailash P. ^{[8
]}

Wider, Christian ^{[1
,9
]}

Vilarino-Guell, Carles ^{[1
]}

Ross, Owen A. ^{[1
]}

Brown, Laura A.

Castanedes-Casey, Monica ^{[10
]}

Dickson, Dennis W. ^{[10
]}

Wszolek, Zbigniew K. ^{[9
]}

机构：

[1] Mayo Clin Florida, Div Neurogenet, Dept Neurosci, Jacksonville, FL 32224 USA

[2] Pacific Parkinsons Res Ctr, Dept Neurol, Vancouver, BC VT6 2B5, Canada

[3] CHU Caen, Neurol Serv, F-14000 Caen, France

[4] CHU Caen, Pathol Lab, F-14000 Caen, France

[5] Fukuoka Univ, Dept Neurol, Fukuoka 8140180, Japan

[6] W Virginia Univ, Dept Neurol, Morgantown, WV 26506 USA

[7] Hacettepe Univ, Sch Med, Dept Neurol, TR-06100 Ankara, Turkey

[8] UCL, Dept Neurol, London WC1N 3BG, England

[9] Mayo Clin Florida, Dept Neurol, Jacksonville, FL 32224 USA

[10] Mayo Clin Florida, Dept Neuropathol, Jacksonville, FL 32224 USA

来源：

NATURE GENETICS | 2009年 / 41卷 / 02期

关键词：

MOTOR-NEURON DISEASE; CENTRAL HYPOVENTILATION; FAMILIAL PARKINSONISM; WEIGHT-LOSS; DYNACTIN;

D O I：

10.1038/ng.293

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Perry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, with brain pathology characterized by TDP-43 immunostaining. We carried out genome-wide linkage analysis and identified five disease-segregating mutations affecting the CAP-Gly domain of dynactin (encoded by DCTN1) in eight families with Perry syndrome; these mutations diminish microtubule binding and lead to intracytoplasmic inclusions. Our findings show that DCTN1 mutations, previously associated with motor neuron disease, can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders.

引用

页码：163 / 165

页数：3

共 13 条

[1] A microtubule-binding domain in dynactin increases dynein processivity by skating along microtubules [J].

Culver-Hanlon, TL ;

Lex, SA ;

Stephens, AD ;

Quintyne, NJ ;

King, SJ .

NATURE CELL BIOLOGY, 2006, 8 (03) :264-270

[2] Key interaction modes of dynamic plus TIP networks [J].

Honnappa, Srinivas ;

Okhrimenko, Oksana ;

Jaussi, Rolf ;

Jawhari, Hatim ;

Jelesarov, Ilian ;

Winkler, Fritz K. ;

Steinmetz, Michel O. .

MOLECULAR CELL, 2006, 23 (05) :663-671

[3] A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation [J].

Levy, JR ;

Sumner, CJ ;

Caviston, JP ;

Tokito, MK ;

Ranganathan, S ;

Ligon, LA ;

Wallace, KE ;

LaMonte, BH ;

Harmison, GG ;

Puls, L ;

Fischbeck, KH ;

Holzbaur, ELF .

JOURNAL OF CELL BIOLOGY, 2006, 172 (05) :733-745

[4] COMPUTER-SIMULATION METHODS IN HUMAN LINKAGE ANALYSIS [J].

OTT, J .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (11) :4175-4178

[5] Distal spinal and bulbar muscular atrophy caused by dynactin mutation [J].

Puls, I ;

Oh, SJ ;

Sumner, CJ ;

Wallace, KE ;

Floeter, MK ;

Mann, EA ;

Kennedy, WR ;

Wendelschafer-Crabb, G ;

Vortmeyer, A ;

Powers, R ;

Finnegan, M ;

Holzbaurl, ELF ;

Fischbeck, KH ;

Ludlow, CL .

ANNALS OF NEUROLOGY, 2005, 57 (05) :687-694

[6] Mutant dynactin in motor neuron disease [J].

Puls, I ;

Jonnakuty, C ;

LaMonte, BH ;

Holzbaur, ELF ;

Tokito, M ;

Mann, E ;

Floeter, MK ;

Bidus, K ;

Drayna, D ;

Oh, SJ ;

Brown, RH ;

Ludlow, CL ;

Fischbeck, KH .

NATURE GENETICS, 2003, 33 (04) :455-456

[7] FAMILIAL PARKINSONISM, APATHY, WEIGHT-LOSS, AND CENTRAL HYPOVENTILATION - SUCCESSFUL LONG-TERM MANAGEMENT [J].

ROY, EP ;

RIGGS, JE ;

MARTIN, JD ;

RINGEL, RA ;

GUTMANN, L .

NEUROLOGY, 1988, 38 (04) :637-639

[8] Dynactin [J].

Schroer, TA .

ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY, 2004, 20 :759-779

[9] Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees [J].

Sobel, E ;

Sengul, H ;

Weeks, DE .

HUMAN HEREDITY, 2001, 52 (03) :121-131

[10] Neurodegeneration involving putative respiratory neurons in Perry syndrome [J].

Tsuboi, Yoshio ;

Dickson, Dennis W. ;

Nabeshima, Kazuki ;

Schmeichel, Ann M. ;

Wszolek, Zbigniew K. ;

Yamada, Tatsuo ;

Benarroch, Eduardo E. .

ACTA NEUROPATHOLOGICA, 2008, 115 (02) :263-268

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