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

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

Human mutation - 1 May 2005

Patrono Clarice, Scarano Valentina, Cricchi Federica, Melone Mariarosa A B, Chiriaco Maria, Napolitano Alessandro, Malandrini Alessandro, De Michele Giuseppe, Petrozzi Lucia, Giraldi Carlo, Santoro Lucio, Servidei Serena, Casali Carlo, Filla Alessandro, Santorelli Filippo M

Abstract excerpt

We set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen patients with autosomal dominant hereditary spastic paraplegia (AD-HSP) for mutations in SPG4. Six patients had a complicated form and 49 a pure HSP phenotype. We also analyzed 19 unrelated patients presenting with an HSP phenotype (pure in 17 and complicated in two subjects) but no clear family history, as such...

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 Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Genes, Dominant

Share to Mutation, Missense

Share to Spastic Paraplegia, Hereditary

Share to Spastin

Source

Identifiers

PMID: 15841487
DOI: 10.1002/humu.9340

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

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.PMID 15841487Read ↗

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.Semantic proximity Read ↗

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

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.Semantic proximity Read ↗

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

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

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.Semantic proximity Read ↗

Novel and recurrent spastin mutations in a large series of SPG4 Italian families.Semantic proximity Read ↗

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.Semantic proximity Read ↗

Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation.Semantic proximity Read ↗

Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia.Semantic proximity Read ↗

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.Semantic proximity Read ↗

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial casesSemantic proximity Read ↗

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