DCTN1 mutations in Perry syndrome

Matthew J. Farrer, Mary M. Hulihan, Jennifer M. Kachergus, Justus C. Dächsel, A. Jon Stoessl, Linda L. Grantier, Susan Calne, Donald B. Calne, Bernard Lechevalier, Francoise Chapon, Yoshio Tsuboi, Tatsuo Yamada, Ludwig Gutmann, Bülent Elibol, Kailash P. Bhatia, Christian Wider, Carles Vilarĩo-Güell, Owen A. Ross, Laura A. Brown, Monica Castanedes-CaseyDennis W. Dickson, Zbigniew K. Wszolek

Research output: Contribution to journalArticle

212 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)163-165
Number of pages3
JournalNature Genetics
Volume41
Issue number2
DOIs
StatePublished - Feb 2009

ASJC Scopus subject areas

  • Genetics

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    Farrer, M. J., Hulihan, M. M., Kachergus, J. M., Dächsel, J. C., Stoessl, A. J., Grantier, L. L., Calne, S., Calne, D. B., Lechevalier, B., Chapon, F., Tsuboi, Y., Yamada, T., Gutmann, L., Elibol, B., Bhatia, K. P., Wider, C., Vilarĩo-Güell, C., Ross, O. A., Brown, L. A., ... Wszolek, Z. K. (2009). DCTN1 mutations in Perry syndrome. Nature Genetics, 41(2), 163-165. https://doi.org/10.1038/ng.293