Article
Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress.
Neuropathology and applied neurobiology - 1 Feb 2021
Kurzawa-Akanbi M, Keogh M, Tsefou E, Ramsay L, Johnson M, Keers S, Wsa Ochieng L, McNair A, Singh P, Khan A, Pyle A, Hudson G, Ince P G, Attems J, Burn J, Chinnery P F, Morris C M
Abstract excerpt
AIMS: Neuroferritinopathy (NF) or hereditary ferritinopathy (HF) is an autosomal dominant movement disorder due to mutation in the light chain of the iron storage protein ferritin (FTL). HF is the only late-onset neurodegeneration with brain iron accumulation disorder and study of HF offers a unique opportunity to understand the role of iron in more common neurodegenerative syndromes. METHODS: We carried out...
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