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 SPG3A and SPG4 mutations in two patients with Silver syndrome.

Journal of clinical neuromuscular disease - 1 Sept 2009

Salameh Johnny S, Shenoy Anant M, David William S

Abstract excerpt

Hereditary spastic paraplegia encompasses a group of disorders that are characterized by progressive lower extremity weakness and spasticity. We describe two patients with Silver phenotype including one with a novel SPG4 (Spastin) mutation and a second with a known SPG 4 mutation (previously unas...

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 Diagnosis, Differential
Share to GTP-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP Phosphohydrolases

Share to Motor Neuron Disease

Share to Muscle Weakness

Share to Spastic Paraplegia, Hereditary

Share to Spastin

Source

Identifiers

PMID: 19730024
DOI: 10.1097/CND.0b013e3181ae3c06

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19730024-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel SPG3A and SPG4 mutations in two patients with Silver syndrome.PMID 19730024Read ↗

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 ↗

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

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.Semantic proximity Read ↗

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

Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.Semantic proximity Read ↗

Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4.Semantic proximity Read ↗

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.Semantic proximity Read ↗

Spectrum of SPG4 Mutations in a Large Collection of North American Families With Hereditary Spastic ParaplegiaSemantic proximity Read ↗

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

A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family.Semantic proximity Read ↗

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

Novel mutation in the SPAST gene in a patient with spastic paraparesis.Semantic proximity Read ↗

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