NDLI: Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia

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Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia

Content Provider	Springer Nature Link
Author	Blair, Marcia A. Ma, Shaochun Hedera, Peter
Copyright Year	2006
Abstract	Autosomal dominant hereditary spastic paraplegia (AD HSP) linked to chromosome 12q (SPG10) is caused by mutations in the neuronal kinesin heavy-chain KIF5A gene. This is a rare cause of AD HSP, and only two disease-causing mutations have been reported thus far. In both instances, affected individuals harboring mutations in the KIF5A gene displayed symptom onset at a very early age. Here we present the results of clinical and genetic analyses of a large kindred with uncomplicated AD HSP. We were able to establish a definitive linkage to the SPG10 locus, and sequencing of the KIF5A gene revealed a heterozygous missense mutation 1,035 A>G in exon 10, resulting in tyrosine-to-cysteine substitution. This mutation is located in a highly conserved kinesin motor domain of the neuronal kinesin heavy-chain protein, but in contrast to two previously reported missense mutations, the age of symptom onset in our family was much later, with an average age of 36.1±4 years. Our results demonstrate that mutations in the KIF5A gene can also be associated with an adult age of onset of AD HSP.
Starting Page	47
Ending Page	50
Page Count	4
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	7
Issue Number	1
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2006-02-18
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Hereditary spastic paraplegia KIF5A Age of onset Mutation Molecular Medicine Human Genetics Neurosciences
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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