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

A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family.

Journal of the neurological sciences - 15 Jun 2003

Qin Wei, Zhang Tao, Han Ju, Tang LiQun, Li XingWang, Feng GuoYin, Liu WanQing, He Lin

Abstract excerpt

A total of eight loci for autosomal dominant hereditary spastic paraplegia (ADHSP) has been mapped to chromosome 14q, 2p, 15q, 8q, 10q, 12q, 19q, 2q, respectively, among which the SPG4 gene on chromosome 2p21-22 encoding spastin, an ATPase of the AAA family, accounts for 40-50% of all ADHSP families and is expressed in both adult and fetal tissues. In this work, we reveal a novel insertion mutation in exon 11 of...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphatases
Share to Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Genes, Dominant

Share to Mutagenesis, Insertional

Share to Restriction Mapping

Share to Spastic Paraplegia, Hereditary

Share to Spastin

Source

Identifiers

PMID: 12736085
DOI: 10.1016/s0022-510x(03)00011-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family.PMID 12736085Read ↗

A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study.Semantic proximity Read ↗

Four mutations of the spastin gene in Japanese families with spastic paraplegia.Semantic proximity Read ↗

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.Semantic proximity Read ↗

Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia.Semantic proximity Read ↗

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.Semantic proximity Read ↗

Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.Semantic proximity Read ↗

A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia.Semantic proximity Read ↗

A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.Semantic proximity Read ↗

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.Semantic proximity Read ↗

Amplifying the spectrum of SPAST gene mutations.Semantic proximity Read ↗

Hereditary spastic paraplegia caused by mutations in the SPG4 gene.Semantic proximity Read ↗

A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.Semantic proximity Read ↗

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