KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

doi:10.1136/jmedgenet-2013-102012

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Article

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

Journal of medical genetics - 1 Feb 2014

Dor Talya, Cinnamon Yuval, Raymond Laure, Shaag Avraham, Bouslam Naima, Bouhouche Ahmed, Gaussen Marion, Meyer Vincent, Durr Alexandra, Brice Alexis, Benomar Ali, Stevanin Giovanni, Schuelke Markus, Edvardson Simon

Abstract excerpt

BACKGROUND: Hereditary spastic paraparesis (HSP) (syn. Hereditary spastic paraplegia, SPG) are a group of genetic disorders characterised by spasticity of the lower limbs due to pyramidal tract dysfunction. Nearly 60 disease loci have been identified, which include mutations in two genes (KIF5A and KIF1A) that encode motor proteins of the kinesin superfamily. Here we report a novel genetic defect in KIF1C of...

Topics

Adolescent
Amino Acid Sequence
Base Sequence
Cerebellar Diseases
Child
Child, Preschool
Consanguinity
DNA Mutational Analysis
Female
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Linkage

HEK293 Cells

Humans

Infant

Kinesins

Male

Molecular Sequence Data

Paraparesis, Spastic

Source

Open in PubMed

Identifiers

PMID: 24319291
DOI: 10.1136/jmedgenet-2013-102012

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