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 novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.

European journal of medical genetics - 1 Jan 2013

Wakil Salma M, Bohlega Saeed, Hagos Samya, Baz Batoul, Al Dossari Haya, Ramzan Khushnooda, Al-Hassnan Zuhair N

Abstract excerpt

Hereditary Spastic Paraplegias (HSP) encompass a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by insidiously progressive weakness and spasticity of the lower extremities. We describe a consanguineous Saudi family segregating a complicated form of HSP in an autosomal recessive pattern. The two affected siblings had early onset, cognitive, speech and motor involvement...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Gene Order

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Membrane Proteins

Share to Pedigree

Share to RNA Splice Sites

Share to Saudi Arabia

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 23085305
DOI: 10.1016/j.ejmg.2012.10.003

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 novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.PMID 23085305Read ↗

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

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.Semantic proximity Read ↗

A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review.Semantic 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 ↗

A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.Semantic proximity Read ↗

HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies.Semantic proximity Read ↗

The emerging genetic diversity of hereditary spastic paraplegia in Korean patients.Semantic proximity Read ↗

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

Novel monoallelic variant in ERLIN2 causes spastic paraplegia converted to amyotrophic lateral sclerosis.Semantic proximity Read ↗

Three novel mutations in 20 patients with hereditary spastic paraparesis.Semantic proximity Read ↗

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

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