Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.

Journal of the neurological sciences - 15 Dec 2008

Liao Shu-sheng, Shen Lu, Du Juan, Zhao Guo-huan, Wang Xiao-yi, Yang Yi, Xiao Zi-quan, Yuan Yi, Jiang Hong, Li Nan, Sun He-dong, Wang Jun-ling, Wang Chun-yu, Zhou Ya-fang, Mo Xiao-yun, Xia Kun, Tang Bei-sha

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a clinically and genetically heterogeneous neurodegenerative disorder with genetic linkage to multi-loci. Recently pathogenic mutations in the KIAA1840 (now named SPG11) for SPG11, the major HSP-TCC locus, were identified; at least 42 different mutations have been detected. OBJECTIVE: To study the clinical features and identify the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Agenesis of Corpus Callosum
Share to Asian People

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Family Health

Share to Follow-Up Studies

Share to Magnetic Resonance Imaging

Share to Mental Status Schedule

Share to Proteins

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 18835492
DOI: 10.1016/j.jns.2008.07.038

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.PMID 18835492Read ↗

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

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

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

Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

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

Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.Semantic proximity Read ↗

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

Clinical characteristics and gene mutation analysis of a family with hereditary spastic paraplegia type 11Semantic proximity Read ↗

Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

Novel SPG11 Mutation in Hereditary Spastic Paraplegia with Thin Corpus Callosum.Semantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.