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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 encodi...

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Source

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Identifiers

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

Genes

SPG11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18337587-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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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 ↗

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

Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family.Semantic proximity Read ↗

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

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.Semantic proximity Read ↗

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