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Article

DCTN1-related neurodegeneration: Perry syndrome and beyond.

Parkinsonism & related disorders - 1 Aug 2017

Konno Takuya, Ross Owen A, Teive Hélio A G, Sławek Jarosław, Dickson Dennis W, Wszolek Zbigniew K

Abstract excerpt

Perry syndrome (PS) is a rare hereditary neurodegenerative disease characterized by autosomal dominant parkinsonism, psychiatric symptoms, weight loss, central hypoventilation, and distinct TDP-43 pathology. The mutated causative gene for PS is DCTN1, which encodes the dynactin subunit p150Glued. Dynactin is a motor protein involved in axonal transport; the p150Glued subunit has a critical role in the overall...

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Identifiers

PMID: 28625595
DOI: 10.1016/j.parkreldis.2017.06.004
PMCID: PMC5546300

Genes

DCTN1

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