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

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Human genetics - 1 Nov 2024

Cogan Guillaume, Zaki Maha S, Issa Mahmoud, Keren Boris, Guillaud-Bataille Marine, Renaldo Florence, Isapof Arnaud, Lallemant Pauline, Stevanin Giovanni, Guillot-Noel Lena, Courtin Thomas, Buratti Julien, Freihuber Cécile, Gleeson Joseph G, Howarth Robyn, Durr Alexandra, de Sainte Agathe Jean-Madeleine, Mignot Cyril

Abstract excerpt

Biallelic variants in the ERLIN1 gene were recently reported as the cause of two motor neuron degeneration diseases, SPG62 and a recessive form of amyotrophic lateral sclerosis. However, only 12 individuals from five pedigrees have been identified so far. Thus, the description of the disease remains limited. Following the discovery of a homozygous pathogenic variant in a girl with SPG62, presenting with...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Intellectual Disability

Share to Membrane Proteins

Share to Paraparesis, Spastic

Share to Pedigree

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 39367212
DOI: 10.1007/s00439-024-02702-0
PMCID: PMC13108457

Genes

ERLIN1
ERLIN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.PMID 39367212Read ↗

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

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

Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis.Semantic proximity Read ↗

Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.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 homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review.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 autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.Semantic proximity Read ↗

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

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.Semantic proximity Read ↗

Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia.Semantic proximity Read ↗

ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree.Semantic proximity Read ↗

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