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Article

VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

Molecular genetics & genomic medicine - 1 Mar 2020

Koh Kishin, Ishiura Hiroyuki, Shimazaki Haruo, Tsutsumiuchi Michiko, Ichinose Yuta, Nan Haitian, Hamada Shun, Ohtsuka Toshihisa, Tsuji Shoji, Takiyama Yoshihisa

Abstract excerpt

BACKGROUND: Alterations of vacuolar protein sorting-associated protein 13 (VPS13) family members including VPS13A, VPS13B, and VPS13C lead to chorea acanthocytosis, Cohen syndrome, and parkinsonism, respectively. Recently, VPS13D mutations were identified as a cause of VPS13D-related movement disorders, which show several phenotypes including chorea, dystonia, spastic ataxia, and spastic paraplegia. METHODS: We...

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PMID: 31876103
DOI: 10.1002/mgg3.1108
PMCID: PMC7057107

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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