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Article

SPG11 compound mutations in spastic paraparesis with thin corpus callosum.

Neurology - 29 Jul 2008

Samaranch L, Riverol M, Masdeu J C, Lorenzo E, Vidal-Taboada J M, Irigoyen J, Pastor M A, de Castro P, Pastor P

Abstract excerpt

BACKGROUND: Autosomal recessive hereditary spastic paraparesis with thin corpus callosum (ARHSP-TCC) is being increasingly recognized as a variety of spastic paraplegia with mental retardation. SPG11 gene mutations have been reported to be associated with ARHSP-TCC. METHODS: As an independent group, we investigated SPG11 gene involvement in four individuals not previously described with either recessive or...

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Source

Identifiers

PMID: 18663179
DOI: 10.1212/01.wnl.0000319646.23052.d1

Genes

SPG11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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