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Article

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

European journal of human genetics : EJHG - 1 Oct 2015

Ylikallio Emil, Kim Doyoun, Isohanni Pirjo, Auranen Mari, Kim Eunjoon, Lönnqvist Tuula, Tyynismaa Henna

Abstract excerpt

Variants in family 1 kinesin (KIF1A), which encodes a kinesin axonal motor protein, have been described to cause variable neurological manifestations. Recessive missense variants have led to spastic paraplegia, and recessive truncations to sensory and autonomic neuropathy. De novo missense varian...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25585697
DOI: 10.1038/ejhg.2014.297
PMCID: PMC4592090

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25585697-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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