A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

doi:10.1002/humu.20682

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

Community

Back to search

Article

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

Human mutation - 1 Apr 2008

Arnoldi Alessia, Tonelli Alessandra, Crippa Francesca, Villani Gaetano, Pacelli Consiglia, Sironi Manuela, Pozzoli Uberto, D'Angelo Maria Grazia, Meola Giovanni, Martinuzzi Andrea, Crimella Claudia, Redaelli Francesca, Panzeri Chris, Renieri Alessandra, Comi Giacomo Pietro, Turconi Anna Carla, Bresolin Nereo, Bassi Maria Teresa

Abstract excerpt

Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed in large groups of hereditary spastic paraplegia (HSP) patients to determine the frequency of SPG7 mutations. Here, we report the result of a mutation screening conducted in a large cohort of 135 Italian HSP patients with...

Read the complete abstract on PubMed

Topics

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

Share to ATPases Associated with Diverse Cellular Activities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Electron Transport Complex I

Share to Genes, Recessive

Share to Italy

Share to Metalloendopeptidases

Share to Mitochondria, Muscle

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed

Identifiers

PMID: 18200586
DOI: 10.1002/humu.20682

Genes

SPG7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.PMID 18200586Read ↗

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegiaSemantic proximity Read ↗

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegiaSemantic proximity Read ↗

Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.Semantic proximity Read ↗

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.Semantic proximity Read ↗

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.Semantic proximity Read ↗

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA DeletionsSemantic proximity Read ↗

New genetic causes for complex hereditary spastic paraplegia.Semantic proximity Read ↗

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case reportSemantic proximity Read ↗

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.Semantic proximity Read ↗

Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.Semantic proximity Read ↗

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.Semantic proximity Read ↗

Evidence for non-Mendelian inheritance in spastic paraplegia 7Semantic proximity Read ↗

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