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

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

Brain : a journal of neurology - 1 Feb 2009

Orthmann-Murphy Jennifer L, Salsano Ettore, Abrams Charles K, Bizzi Alberto, Uziel Graziella, Freidin Mona M, Lamantea Eleonora, Zeviani Massimo, Scherer Steven S, Pareyson Davide

Abstract excerpt

Recessive mutations in GJA12/GJC2, the gene that encodes the gap junction protein connexin47 (Cx47), cause Pelizaeus-Merzbacher-like disease (PMLD), an early onset dysmyelinating disorder of the CNS, characterized by nystagmus, psychomotor delay, progressive spasticity and cerebellar signs. Here we describe three patients from one family with a novel recessively inherited mutation, 99C>G (predicted to cause an...

Read the complete abstract on PubMed

Topics

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

Share to Connexin 43
Share to Connexins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Evoked Potentials

Share to HeLa Cells

Share to Magnetic Resonance Imaging

Share to Microscopy, Fluorescence

Share to Patch-Clamp Techniques

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 19056803
DOI: 10.1093/brain/awn328
PMCID: PMC2640216

Genes

GJC2

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

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.PMID 19056803Read ↗

Diseases of connexins expressed in myelinating glia.Semantic proximity Read ↗

Gap junctions in inherited human disorders of the central nervous system.Semantic proximity Read ↗

A new mutation in GJC2 associated with subclinical leukodystrophy.Semantic proximity Read ↗

Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.Semantic proximity Read ↗

Gap junction disorders of myelinating cells.Semantic proximity Read ↗

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.Semantic proximity Read ↗

Pathologic and Phenotypic Alterations in a Mouse Expressing a Connexin47 Missense Mutation That Causes Pelizaeus-Merzbacher–Like Disease in HumansSemantic proximity Read ↗

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.Semantic proximity Read ↗

Molecular mechanisms of gap junction mutations in myelinating cells.Semantic proximity Read ↗

Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44.Semantic proximity Read ↗

Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease.Semantic proximity Read ↗

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.Semantic proximity Read ↗

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