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 mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.

Archives of neurology - 1 Oct 2004

Hedera Peter, Fenichel Gerald M, Blair Marcia, Haines Jonathan L

Abstract excerpt

BACKGROUND: Mutations in a novel GTPase gene SPG3A cause an autosomal dominant hereditary spastic paraplegia linked to chromosome 14q (SPG3), which accounts for approximately 10% to 15% of all autosomal dominant hereditary spastic paraplegia cases. The mutational spectrum of the SPG3A gene and the phenotype/genotype correlations have not yet been established. OBJECTIVE: To describe a kindred with an infantile...

Read the complete abstract on PubMed

Topics

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

Share to Black or African American
Share to Chromosomes, Human, Pair 14

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to GTP-Binding Proteins

Share to GTP Phosphohydrolases

Share to Isoleucine

Share to Spastic Paraplegia, Hereditary

Share to Threonine

Source

Identifiers

PMID: 15477516
DOI: 10.1001/archneur.61.10.1600

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.PMID 15477516Read ↗

Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3ASemantic proximity Read ↗

SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia.Semantic proximity Read ↗

SPG20 mutation in three siblings with familial hereditary spastic paraplegia.Semantic proximity Read ↗

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.Semantic proximity Read ↗

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.Semantic proximity Read ↗

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.Semantic proximity Read ↗

Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.Semantic proximity Read ↗

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.Semantic proximity Read ↗

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.Semantic proximity Read ↗

Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family.Semantic proximity Read ↗

Complex phenotype in an Italian family with a novel mutation in SPG3A.Semantic proximity Read ↗

The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.Semantic proximity Read ↗

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