DCTN1 mutations in Perry syndrome

Perry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, in which brain pathology is characterized by TDP-43 immunostaining. Through genome-wide linkage analysis we have identified five disease-segregating dynactin (DCTN1) CAP-Gly domain substitutions...

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Autores principales: Farrer, Matthew J., Hulihan, Mary M., Kachergus, Jennifer M., Dächsel, Justus, Stoessl, A. Jon, Grantier, Linda L., Calne, Susan, Calne, Donald B., Lechevalier, Bernard, Chapon, Francoise, Tsuboi, Yoshio, Yamada, Tatsuo, Gutmann, Ludwig, Elibol, Bülent, Bhatia, Kailash P., Wider, Christian W., Vilariño-Güell, Carles, Ross, Owen A., Brown, Laura A., Castanedes-Casey, Monica, Dickson, Dennis W., Wszolek, Zbigniew K.
Formato: Texto
Lenguaje:English
Publicado: 2009
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2813485/
https://www.ncbi.nlm.nih.gov/pubmed/19136952
http://dx.doi.org/10.1038/ng.293
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author Farrer, Matthew J.
Hulihan, Mary M.
Kachergus, Jennifer M.
Dächsel, Justus
Stoessl, A. Jon
Grantier, Linda L.
Calne, Susan
Calne, Donald B.
Lechevalier, Bernard
Chapon, Francoise
Tsuboi, Yoshio
Yamada, Tatsuo
Gutmann, Ludwig
Elibol, Bülent
Bhatia, Kailash P.
Wider, Christian W.
Vilariño-Güell, Carles
Ross, Owen A.
Brown, Laura A.
Castanedes-Casey, Monica
Dickson, Dennis W.
Wszolek, Zbigniew K.
author_facet Farrer, Matthew J.
Hulihan, Mary M.
Kachergus, Jennifer M.
Dächsel, Justus
Stoessl, A. Jon
Grantier, Linda L.
Calne, Susan
Calne, Donald B.
Lechevalier, Bernard
Chapon, Francoise
Tsuboi, Yoshio
Yamada, Tatsuo
Gutmann, Ludwig
Elibol, Bülent
Bhatia, Kailash P.
Wider, Christian W.
Vilariño-Güell, Carles
Ross, Owen A.
Brown, Laura A.
Castanedes-Casey, Monica
Dickson, Dennis W.
Wszolek, Zbigniew K.
author_sort Farrer, Matthew J.
collection PubMed
description Perry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, in which brain pathology is characterized by TDP-43 immunostaining. Through genome-wide linkage analysis we have identified five disease-segregating dynactin (DCTN1) CAP-Gly domain substitutions in 8 families that diminish microtubule binding and lead to intracytoplasmic inclusions. DCTN1 mutations were previously associated with motor neuron disease but can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders.
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spelling pubmed-28134852010-01-29 DCTN1 mutations in Perry syndrome Farrer, Matthew J. Hulihan, Mary M. Kachergus, Jennifer M. Dächsel, Justus Stoessl, A. Jon Grantier, Linda L. Calne, Susan Calne, Donald B. Lechevalier, Bernard Chapon, Francoise Tsuboi, Yoshio Yamada, Tatsuo Gutmann, Ludwig Elibol, Bülent Bhatia, Kailash P. Wider, Christian W. Vilariño-Güell, Carles Ross, Owen A. Brown, Laura A. Castanedes-Casey, Monica Dickson, Dennis W. Wszolek, Zbigniew K. Nat Genet Article Perry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, in which brain pathology is characterized by TDP-43 immunostaining. Through genome-wide linkage analysis we have identified five disease-segregating dynactin (DCTN1) CAP-Gly domain substitutions in 8 families that diminish microtubule binding and lead to intracytoplasmic inclusions. DCTN1 mutations were previously associated with motor neuron disease but can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders. 2009-01-11 2009-02 /pmc/articles/PMC2813485/ /pubmed/19136952 http://dx.doi.org/10.1038/ng.293 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Farrer, Matthew J.
Hulihan, Mary M.
Kachergus, Jennifer M.
Dächsel, Justus
Stoessl, A. Jon
Grantier, Linda L.
Calne, Susan
Calne, Donald B.
Lechevalier, Bernard
Chapon, Francoise
Tsuboi, Yoshio
Yamada, Tatsuo
Gutmann, Ludwig
Elibol, Bülent
Bhatia, Kailash P.
Wider, Christian W.
Vilariño-Güell, Carles
Ross, Owen A.
Brown, Laura A.
Castanedes-Casey, Monica
Dickson, Dennis W.
Wszolek, Zbigniew K.
DCTN1 mutations in Perry syndrome
title DCTN1 mutations in Perry syndrome
title_full DCTN1 mutations in Perry syndrome
title_fullStr DCTN1 mutations in Perry syndrome
title_full_unstemmed DCTN1 mutations in Perry syndrome
title_short DCTN1 mutations in Perry syndrome
title_sort dctn1 mutations in perry syndrome
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2813485/
https://www.ncbi.nlm.nih.gov/pubmed/19136952
http://dx.doi.org/10.1038/ng.293
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