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

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18).

Neurogenetics - 1 Nov 2011

Alazami Anas M, Adly Nouran, Al Dhalaan Hisham, Alkuraya Fowzan S

Abstract excerpt

Hereditary Spastic Paraplegia (HSP) is a clinically and genetically heterogeneous group of neurological disorders that are characterized by progressive spasticity of the lower extremities. We describe an extended consanguineous Saudi family in which HSP is linked to SPG18, a previously reported autosomal recessive locus, and show that it is associated with a nullimorphic deletion of ERLIN2, a component of...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum-Associated Degradation

Share to Membrane Proteins

Share to Mutation

Share to Pedigree

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 21796390
DOI: 10.1007/s10048-011-0291-8
PMCID: PMC3215864

Genes

ERLIN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18).PMID 21796390Read ↗

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.Semantic proximity Read ↗

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.Semantic proximity Read ↗

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegiaSemantic proximity Read ↗

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.Semantic proximity Read ↗

Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.Semantic proximity Read ↗

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Semantic proximity Read ↗

New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.Semantic proximity Read ↗

An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18).Semantic proximity Read ↗

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms.Semantic proximity Read ↗

A complete overview of REEP1: old and new insights on its role in hereditary spastic paraplegia and neurodegeneration.Semantic proximity Read ↗

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.Semantic proximity Read ↗

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologySemantic proximity Read ↗

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