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NIPA1mutation in complex hereditary spastic paraplegia with epilepsy

22 Feb 2011

Abstract excerpt

BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterized in the 'pure' phenotype by progressive spasticity and weakness of the lower limbs. In the 'complex' phenotype, additional neurologic symptoms or signs are found. Mutations in the NIPA1 gene have been reported to cause spastic paraplegia type 6 (SPG6) in 10...

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PMID: 21599812
DOI: 10.1111/j.1468-1331.2011.03359.x

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