Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene.

doi:10.1055/s-0039-3400988

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Article

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene.

Neuropediatrics - 1 Apr 2020

Van Beusichem A E, Nicolai J, Verhoeven J, Speth L, Coenen M, Willemsen M A, Kamsteeg E J, Stumpel C, Vermeulen R J

Abstract excerpt

Several de novo variants in the KIF1A gene have been reported to cause a complicated form of hereditary spastic paraplegia. Additional symptoms include cognitive impairment and varying degrees of peripheral neuropathy, epilepsy, decreased visual acuity, and ataxia. We describe four patients (ages 10-18 years), focusing on their mobility and gait characteristics. Two patients were not able to walk without...

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PMID: 31805580
DOI: 10.1055/s-0039-3400988

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.