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Motor protein mutations cause a new form of hereditary spastic paraplegia.

Neurology - 3 Jun 2014

Caballero Oteyza Andrés, Battaloğlu Esra, Ocek Levent, Lindig Tobias, Reichbauer Jennifer, Rebelo Adriana P, Gonzalez Michael A, Zorlu Yasar, Ozes Burcak, Timmann Dagmar, Bender Benjamin, Woehlke Günther, Züchner Stephan, Schöls Ludger, Schüle Rebecca

Abstract excerpt

OBJECTIVE: To identify a novel disease gene in 2 families with autosomal recessive hereditary spastic paraplegia (HSP). METHODS: We used whole-exome sequencing to identify the underlying genetic disease cause in 2 families with apparently autosomal recessive spastic paraplegia. Endogenous expression as well as subcellular localization of wild-type and mutant protein were studied to support the pathogenicity of...

Topics

Adult
Cell Movement
Female
Germany
Heterozygote
Homozygote
Humans
Intracellular Space
Kinesins
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Phenotype

Severity of Illness Index

Spastic Paraplegia, Hereditary

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Identifiers

PMID: 24808017
DOI: 10.1212/WNL.0000000000000479
PMCID: PMC4105256

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