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Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.

European journal of neurology - 1 May 2017

Krenn M, Zulehner G, Hotzy C, Rath J, Stogmann E, Wagner M, Haack T B, Strom T M, Zimprich A, Zimprich F

Abstract excerpt

BACKGROUND AND PURPOSE: Hereditary spastic paraplegia is a clinically and genetically heterogeneous group of rare, inherited disorders causing an upper motor neuron syndrome with (complex) or without (pure) additional neurological symptoms. Mutations in the KIF1A gene have already been associated with recessive and dominant forms of hereditary spastic paraplegia (SPG30) in a few cases. METHODS: All family members...

Topics

Female
Humans
Kinesins
Mutation
Paraplegia
Pedigree
Republic of North Macedonia

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28332297
DOI: 10.1111/ene.13279

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