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Article

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.

Brain : a journal of neurology - 1 Jan 2007

Chinnery Patrick F, Crompton Douglas E, Birchall Daniel, Jackson Margaret J, Coulthard Alan, Lombès Anne, Quinn Niall, Wills Adrian, Fletcher Nicholas, Mottershead John P, Cooper Paul, Kellett Mark, Bates David, Burn John

Abstract excerpt

Neuroferritinopathy is a progressive potentially treatable adult-onset movement disorder caused by mutations in the ferritin light chain gene (FTL1). Features overlap with common extrapyramidal disorders: idiopathic torsion dystonia, idiopathic Parkinson's disease and Huntington's disease, but th...

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Identifiers

PMID: 17142829
DOI: 10.1093/brain/awl319

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17142829-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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