2. Academic Validation
  3. DCTN1 mutations in Perry syndrome

DCTN1 mutations in Perry syndrome

  • Nat Genet. 2009 Feb;41(2):163-5. doi: 10.1038/ng.293.
Matthew J Farrer 1,  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 Vilariño-Güell,  Owen A Ross,  Laura A Brown,  Monica Castanedes-Casey,  Dennis W Dickson,  Zbigniew K Wszolek
Affiliations

Affiliation

  • 1 Division of Neurogenetics, Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida 32224, USA. farrer.matthew@mayo.edu
PMID: 19136952 DOI: 10.1038/ng.293
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.

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