DCTN1 mutations in Perry syndrome by Farrer Matthew J, Hulihan Mary M, Kachergus Jennifer M, Dächsel Justus C, 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, Vilariño-Güell Carles, Ross Owen A, Brown Laura A, Castanedes-Casey Monica, Dickson Dennis W, Wszolek Zbigniew K in Nature genetics (2009).

[PMID: 19136952] PubMed


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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