Book contents
- Frontmatter
- Contents
- Foreword by Anthony S. Tavill
- Preface
- 1 History of iron overload disorders
- 2 Normal iron absorption and metabolism
- 3 Iron toxicity
- 4 Tests for hemochromatosis and iron overload
- 5 Complications of hemochromatosis and iron overload
- 6 Insulin resistance and iron overload
- 7 Infections and immunity
- 8 Classical and atypical HFE hemochromatosis
- 9 Heterozygosity for HFE C282Y
- 10 Porphyria cutanea tarda
- 11 Mitochondrial mutations as modifiers of hemochromatosis
- 12 Hemochromatosis associated with ferroportin gene (SLC40A1) mutations
- 13 Hemochromatosis associated with hemojuvelin gene (HJV) mutations
- 14 Hemochromatosis associated with hepcidin gene (HAMP) mutations
- 15 Hemochromatosis associated with transferrin receptor-2 gene (TFR2) mutations
- 16 Iron overload associated with IRE mutation of ferritin heavy-chain gene (FTH1)
- 17 Hereditary hyperferritinemia-cataract syndrome: IRE mutations of ferritin light-chain gene (FTL)
- 18 Iron overload in Native Africans and African-Americans
- 19 Hereditary atransferrinemia
- 20 Divalent metal transporter-1 (SLC11A2) iron overload
- 21 Iron overload associated with thalassemia syndromes
- 22 Iron overload associated with hemoglobinopathies
- 23 Iron overload associated with pyruvate kinase deficiency
- 24 Iron overload associated with congenital dyserythropoietic anemias
- 25 Hereditary sideroblastic anemias
- 26 Pearson marrow–pancreas syndrome
- 27 Acquired sideroblastic anemias
- 28 Hereditary aceruloplasminemia
- 29 Friedreich ataxia and cardiomyopathy
- 30 Pantothenate kinase (PANK2)-associated neurodegeneration
- 31 Neuroferritinopathies
- 32 GRACILE syndrome
- 33 Neonatal hemochromatosis
- 34 Iron overload due to excessive supplementation
- 35 Localized iron overload
- 36 Management of iron overload
- 37 Population screening for hemochromatosis
- 38 Ethical, legal, and social implications
- 39 Directions for future research
- Index
- Plate section
- References
31 - Neuroferritinopathies
Published online by Cambridge University Press: 01 June 2011
- Frontmatter
- Contents
- Foreword by Anthony S. Tavill
- Preface
- 1 History of iron overload disorders
- 2 Normal iron absorption and metabolism
- 3 Iron toxicity
- 4 Tests for hemochromatosis and iron overload
- 5 Complications of hemochromatosis and iron overload
- 6 Insulin resistance and iron overload
- 7 Infections and immunity
- 8 Classical and atypical HFE hemochromatosis
- 9 Heterozygosity for HFE C282Y
- 10 Porphyria cutanea tarda
- 11 Mitochondrial mutations as modifiers of hemochromatosis
- 12 Hemochromatosis associated with ferroportin gene (SLC40A1) mutations
- 13 Hemochromatosis associated with hemojuvelin gene (HJV) mutations
- 14 Hemochromatosis associated with hepcidin gene (HAMP) mutations
- 15 Hemochromatosis associated with transferrin receptor-2 gene (TFR2) mutations
- 16 Iron overload associated with IRE mutation of ferritin heavy-chain gene (FTH1)
- 17 Hereditary hyperferritinemia-cataract syndrome: IRE mutations of ferritin light-chain gene (FTL)
- 18 Iron overload in Native Africans and African-Americans
- 19 Hereditary atransferrinemia
- 20 Divalent metal transporter-1 (SLC11A2) iron overload
- 21 Iron overload associated with thalassemia syndromes
- 22 Iron overload associated with hemoglobinopathies
- 23 Iron overload associated with pyruvate kinase deficiency
- 24 Iron overload associated with congenital dyserythropoietic anemias
- 25 Hereditary sideroblastic anemias
- 26 Pearson marrow–pancreas syndrome
- 27 Acquired sideroblastic anemias
- 28 Hereditary aceruloplasminemia
- 29 Friedreich ataxia and cardiomyopathy
- 30 Pantothenate kinase (PANK2)-associated neurodegeneration
- 31 Neuroferritinopathies
- 32 GRACILE syndrome
- 33 Neonatal hemochromatosis
- 34 Iron overload due to excessive supplementation
- 35 Localized iron overload
- 36 Management of iron overload
- 37 Population screening for hemochromatosis
- 38 Ethical, legal, and social implications
- 39 Directions for future research
- Index
- Plate section
- References
Summary
Neuroferritinopathy (OMIM #606159), also known as adult-onset basal ganglia disease, is a progressive movement disorder caused by mutations in the coding region of the ferritin light chain gene (FTL, chromosome 19q13.3–q13.4). Persons with neuroferritinopathy have abnormal ferritin light chain polypeptide, decreased serum ferritin concentrations, and accumulation of iron in the basal ganglia. Curtis and colleagues first described this syndrome in an English kinship in 2001. They also coined the commonly used term “neuroferritinopathy.” Subsequent identification and study of other subjects have revealed additional observations on the genotypes, phenotypes, and epidemiology associated with neuroferritinopathy.
Other mutations of the FTL coding region segregate with a syndrome that comprises hyperferritinemia, absence of iron overload, and absence of ocular cataracts. Mutations of the iron-responsive element of FTL cause a different clinical syndrome characterized by elevated levels of otherwise normal ferritin, cataracts due to ferritin light-chain deposition in the ocular lens, and absence of neurological abnormalities (Chapter 17).
History
In 2001, Curtis and colleagues described late-onset autosomal dominant dystonia that segregated with FTL 460insA in an English kinship. In 2003, Chinnery, Curtis, and colleagues reported a French family in which some members had a similar clinical disorder and the same FTL mutation. In 2007, Chinnery and colleagues compiled observations in 41 patients with neuroferritinopathy and FTL 460insA. They presented between the ages of 38 and 58 years; some had chorea, others had focal dystonia, and others had an akinetic rigid Parkinsonian syndrome. Brain imaging showed basal ganglia cavitation that was confirmed at necropsy.
- Type
- Chapter
- Information
- Handbook of Iron Overload Disorders , pp. 299 - 303Publisher: Cambridge University PressPrint publication year: 2010