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Article

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.

Neurology - 25 Apr 2006

Al-Yahyaee S, Al-Gazali L I, De Jonghe P, Al-Barwany H, Al-Kindi M, De Vriendt E, Chand P, Koul R, Jacob P C, Gururaj A, Sztriha L, Parrado A, Van Broeckhoven C, Bayoumi R A

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) are classified clinically as pure when progressive spasticity occurs in isolation or complicated when other neurologic abnormalities are present. At least 22 genetic loci have been linked to HSP, 8 of which are autosomal recessive (ARHSP). HSP complicated with the presence of thin corpus callosum (HSP-TCC) is a common subtype of HSP. One genetic locus has been...

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Source

Identifiers

PMID: 16636240
DOI: 10.1212/01.wnl.0000208501.52849.dd

Genes

SPG11

Provenance

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Related research

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A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.PMID 16636240Read ↗

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

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SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.Semantic proximity Read ↗

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.Semantic proximity Read ↗

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