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Article

Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights.

Journal of neuropathology and experimental neurology - 1 Apr 2005

Mancuso Michelangelo, Davidzon Guido, Kurlan Roger M, Tawil Rabi, Bonilla Eduardo, Di Mauro Salvatore, Powers James M

Abstract excerpt

We report a family of French Canadian and Dutch ancestry with hereditary ferritinopathy (neuroferritinopathy) and a novel mutation (C insertion at nt646-647 in exon 4) in the ferritin light chain gene, resulting in a longer than normal protein. Our failure to immunostain most of the abnormal ferr...

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PMID: 15835264
DOI: 10.1093/jnen/64.4.280

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15835264-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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