Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.

doi:10.1038/s41598-017-12999-9

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Article

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.

Scientific reports - 2 Oct 2017

Cheon Chong Kun, Lim So-Hee, Kim Yoo-Mi, Kim Doyoun, Lee Na-Yoon, Yoon Tae-Sung, Kim Nam-Soon, Kim Eunjoon, Lee Jae-Ran

Abstract excerpt

KIF1A is a brain-specific anterograde motor protein that transports cargoes towards the plus-ends of microtubules. Many variants of the KIF1A gene have been associated with neurodegenerative diseases and developmental delay. Homozygous mutations of KIF1A have been identified in a recessive subtype of hereditary spastic paraplegia (HSP), SPG30. In addition, KIF1A mutations have been found in pure HSP with...

Topics

Adolescent
Adult
Brain
Child
Child, Preschool
Female
Genetic Predisposition to Disease
Humans
Infant
Intellectual Disability
Kinesins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Language Development Disorders

Male

Microtubules

Mutation

Organ Specificity

Pedigree

Protein Binding

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Identifiers

PMID: 28970574
DOI: 10.1038/s41598-017-12999-9
PMCID: PMC5624960

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