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Article

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.

Journal of child neurology - 1 Aug 2016

Hotchkiss Leslie, Donkervoort Sandra, Leach Meganne E, Mohassel Payam, Bharucha-Goebel Diana X, Bradley Nathaniel, Nguyen David, Hu Ying, Gurgel-Giannetti Juliana, Bönnemann Carsten G

Abstract excerpt

Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of disorders characterized by lower extremity spasticity and weakness. Recently, the first de novo mutations in KIF1A were identified in patients with an early-onset severe form of complicated hereditary spastic paraplegia. We report two additional patients with novel de novo mutations in KIF1A, hereby expanding the genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27034427
DOI: 10.1177/0883073816639718
PMCID: PMC5030766

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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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Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.PMID 27034427Read ↗

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