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Article

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.

Neurology - 15 Apr 2008

Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A

Abstract excerpt

BACKGROUND: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common form of complex hereditary spastic paraplegia. The genetic lesion underlying ARHSP-TCC was localized to chromosome 15q13-q15 and given the designation SPG11. Recently, the gene encoding spatacsin (KIAA1840) has been shown to contain mutations that underlie the majority of ARHSP-TCC cases. METHODS: We...

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Identifiers

PMID: 18337587
DOI: 10.1212/01.wnl.0000294327.66106.3d
PMCID: PMC2730021

Genes

SPG11

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.PMID 18337587Read ↗

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).Semantic proximity Read ↗

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

A case report of SPG11 mutations in a Chinese ARHSP-TCC family.Semantic proximity Read ↗

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

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.Semantic proximity Read ↗

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.Semantic proximity Read ↗

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Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

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