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

Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation.

Journal of child neurology - 1 Oct 2012

Fusco Carlo, Frattini Daniele, Farnetti Enrico, Nicoli Davide, Casali Bruno, Della Giustina Elvio

Abstract excerpt

Spastic paraplegia 3A is the second most common form of hereditary autosomal dominant spastic paraplegia. This form is mainly associated with an early age of onset and pure phenotype, although recently complicated forms were reported. We describe a patient carrying a new C>T P344S>CT mutation in exon 10 of the spastic paraplegia 3A gene with unusual, complicated, and extremely severe phenotype. At the last...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Electrophysiology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP-Binding Proteins

Share to Membrane Proteins

Share to Mutation

Share to Phenotype

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 22378671
DOI: 10.1177/0883073811435245

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation.PMID 22378671Read ↗

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

Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.Semantic proximity Read ↗

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.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 associated with axonal neuropathy: a novel mutation of SPG3A in a large family.Semantic proximity Read ↗

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

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

Hereditary spastic paraplegia 3A associated with axonal neuropathy.Semantic proximity Read ↗

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

Extremely severe complicated spastic paraplegia 3A with neonatal onset.Semantic proximity Read ↗

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.Semantic proximity Read ↗

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.Semantic proximity Read ↗

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