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 large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study.

Journal of the neurological sciences - 15 Mar 2001

Namekawa M, Takiyama Y, Sakoe K, Shimazaki H, Amaike M, Niijima K, Nakano I, Nishizawa M

Abstract excerpt

We studied a large Japanese family with autosomal dominant pure hereditary spastic paraplegia (ADPHSP) clinically and genetically. To date, seven loci causing ADPHSP have been mapped to chromosomes 14q, 2p, 15q, 8q, 12q, 2q, and 19q. Among these loci, the SPG4 locus on chromosome 2p21--p22 has be...

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 Constipation
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intestinal Obstruction

Share to Point Mutation

Share to Spastic Paraplegia, Hereditary

Share to Spastin

Source

Identifiers

PMID: 11266693
DOI: 10.1016/s0022-510x(01)00470-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11266693-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study.PMID 11266693Read ↗

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

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

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

[AAA ATPases and hereditary spastic paraplegia].Semantic proximity Read ↗

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.Semantic proximity Read ↗

Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.Semantic proximity Read ↗

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

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

A SPAST gene-related hereditary spastic paraplegia type 4 family: Identification by a novel mutationSemantic proximity Read ↗

High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.Semantic proximity Read ↗

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

A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.Semantic proximity Read ↗

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