A novel complex neurological phenotype due to a homozygous mutation in FDX2.

doi:10.1093/brain/awy172

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 novel complex neurological phenotype due to a homozygous mutation in FDX2.

Brain : a journal of neurology - 1 Aug 2018

Gurgel-Giannetti Juliana, Lynch David S, Paiva Anderson Rodrigues Brandão de, Lucato Leandro Tavares, Yamamoto Guilherme, Thomsen Christer, Basu Somsuvro, Freua Fernando, Giannetti Alexandre Varella, de Assis Bruno Della Ripa, Ribeiro Mara Dell Ospedale, Barcelos Isabella, Sayão Souza Katiane, Monti Fernanda, Melo Uirá Souto, Amorim Simone, Silva Leonardo G L, Macedo-Souza Lúcia Inês, Vianna-Morgante Angela M, Hirano Michio, Van der Knaap Marjo S, Lill Roland, Vainzof Mariz, Oldfors Anders, Houlden Henry, Kok Fernando

Abstract excerpt

Defects in iron-sulphur [Fe-S] cluster biogenesis are increasingly recognized as causing neurological disease. Mutations in a number of genes that encode proteins involved in mitochondrial [Fe-S] protein assembly lead to complex neurological phenotypes. One class of proteins essential in the early cluster assembly are ferredoxins. FDX2 is ubiquitously expressed and is essential in the de novo formation of...

Read the complete abstract on PubMed

Topics

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

Share to Electron Transport Complex IV

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ferredoxins

Share to Iron-Sulfur Proteins

Share to Leukoencephalopathies

Share to Muscular Diseases

Share to Myalgia

Share to Optic Atrophy

Share to Succinate Dehydrogenase

Source

Open in PubMed Open full text

Identifiers

PMID: 30010796
DOI: 10.1093/brain/awy172
PMCID: PMC6061701

Genes

FDX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel complex neurological phenotype due to a homozygous mutation in FDX2.PMID 30010796Read ↗

Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin-2 (FDX2) gene.Semantic proximity Read ↗

Exome sequencing identifies <i><scp>NFS</scp>1</i> deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex <scp>II</scp>/<scp>III</scp> deficiencySemantic proximity Read ↗

Mitochondrial iron-sulfur cluster biogenesis and neurological disorders.Semantic proximity Read ↗

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.Semantic proximity Read ↗

Integrated analysis of the molecular pathogenesis of FDXR-associated disease.Semantic proximity Read ↗

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.Semantic proximity Read ↗

A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants.Semantic proximity Read ↗

UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration.Semantic proximity Read ↗

Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.Semantic proximity Read ↗

Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay.Semantic proximity Read ↗

Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndromeSemantic proximity Read ↗

Classification and molecular pathogenesis of NBIA syndromes.Semantic proximity Read ↗

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