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

Neuroferritinopathy.

Seminars in pediatric neurology - 1 Sept 2006

Burn John, Chinnery Patrick F

Abstract excerpt

Neuroferritinopathy (MIM 606159, also labeled hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2, NBIA2) is an adult-onset progressive movement disorder caused by mutations in the ferritin light chain gene (FTL1). Four pathogenic mutations in FTL1 have been described to date; 460insA was our original founder mutation in Cumbria, North West England, where it arose before 1800. The...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Mapping
Share to Ferritins
Share to Gene Frequency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Iron Metabolism Disorders

Share to Neurodegenerative Diseases

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 17101456
DOI: 10.1016/j.spen.2006.08.006

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

Neuroferritinopathy.PMID 17101456Read ↗

A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.Semantic proximity Read ↗

Neuroferritinopathy.Semantic proximity Read ↗

Neuroferritinopathy.Semantic proximity Read ↗

Neuroferritinopathy: a new inborn error of iron metabolism.Semantic proximity Read ↗

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.Semantic proximity Read ↗

Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation.Semantic proximity Read ↗

Spectrum of movement disorders in neuroferritinopathy.Semantic proximity Read ↗

[Clinical features of neuroferritinopathy].Semantic proximity Read ↗

Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene.Semantic proximity Read ↗

A 3'-truncating FTL mutation associated with hypoferritinemia without neuroferritinopathy.Semantic proximity Read ↗

A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.Semantic proximity Read ↗

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

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