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Article

On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.

Clinical genetics - 1 Apr 2018

Tello C, Darling A, Lupo V, Pérez-Dueñas B, Espinós C

Abstract excerpt

Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited heterogeneous neurodegenerative rare disorders. These patients present with dystonia, spasticity, parkinsonism and neuropsychiatric disturbances, along with brain magnetic resonance imaging (MRI) evidence of iron accumulation. In sum, they are devastating disorders and to date, there is no specific treatment. Ten NBIA genes are...

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Source

Identifiers

PMID: 28542792
DOI: 10.1111/cge.13057

Genes

COASY
DCAF17
FTL
PANK2

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.

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