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

Complex phenotype in an Italian family with a novel mutation in SPG3A.

Journal of neurology - 1 Mar 2010

de Leva Maria Fulvia, Filla Alessandro, Criscuolo Chiara, Tessa Alessandra, Pappatà Sabina, Quarantelli Mario, Bilo Leonilda, Peluso Silvio, Antenora Antonella, Longo Dario, Santorelli Filippo M, De Michele Giuseppe

Abstract excerpt

Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of...

Read the complete abstract on PubMed

Topics

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

Share to Atrophy
Share to Cerebellar Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellum

Share to Frontal Lobe

Share to GTP-Binding Proteins

Share to GTP Phosphohydrolases

Share to Positron-Emission Tomography

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 19768483
DOI: 10.1007/s00415-009-5311-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Complex phenotype in an Italian family with a novel mutation in SPG3A.PMID 19768483Read ↗

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 ↗

Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation.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 3A associated with axonal neuropathy.Semantic proximity Read ↗

Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.Semantic proximity Read ↗

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

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.Semantic proximity Read ↗

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.Semantic proximity Read ↗

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

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