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Neuroferritinopathy

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https://www.readbyqxmd.com/read/27753142/clinical-evaluation-of-a-hemochromatosis-next-generation-sequencing-gene-panel
#1
Matthew B Lanktree, Bekim Sadikovic, John S Waye, Alexander Levstik, Bruce B Lanktree, Jovana Yudin, Mark A Crowther, Guillaume Pare, Paul C Adams
BACKGROUND: Next-generation sequencing of an iron metabolism gene panel could identify pathogenic mutations, improving on standard hemochromatosis genetic testing and providing a molecular diagnosis in patients with suspected iron overload. METHODS: A next-generation sequencing panel of 15 genes with known roles in iron metabolism was constructed. 190 patients were sequenced: 94 from a tertiary hemochromatosis clinic, and 96 submitted for HFE testing with biochemical evidence of iron overload [elevated ferritin (>450 μg/L) or transferrin saturation (>55%)] obtained from a chart review...
October 18, 2016: European Journal of Haematology
https://www.readbyqxmd.com/read/27574973/effect-of-systemic-iron-overload-and-a-chelation-therapy-in-a-mouse-model-of-the-neurodegenerative-disease-hereditary-ferritinopathy
#2
Holly J Garringer, Jose M Irimia, Wei Li, Charles B Goodwin, Briana Richine, Anthony Acton, Rebecca J Chan, Munro Peacock, Barry B Muhoberac, Bernardino Ghetti, Ruben Vidal
Mutations in the ferritin light chain (FTL) gene cause the neurodegenerative disease neuroferritinopathy or hereditary ferritinopathy (HF). HF is characterized by a severe movement disorder and by the presence of nuclear and cytoplasmic iron-containing ferritin inclusion bodies (IBs) in glia and neurons throughout the central nervous system (CNS) and in tissues of multiple organ systems. Herein, using primary mouse embryonic fibroblasts from a mouse model of HF, we show significant intracellular accumulation of ferritin and an increase in susceptibility to oxidative damage when cells are exposed to iron...
2016: PloS One
https://www.readbyqxmd.com/read/27487380/a-diagnostic-approach-for-neurodegeneration-with-brain-iron-accumulation-clinical-features-genetics-and-brain-imaging
#3
Rubens Paulo Araújo Salomão, José Luiz Pedroso, Maria Thereza Drumond Gama, Lívia Almeida Dutra, Ricardo Horta Maciel, Clécio Godeiro-Junior, Hsin Fen Chien, Hélio A G Teive, Francisco Cardoso, Orlando G P Barsottini
Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome...
July 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27158664/ftl-mutation-in-a-chinese-pedigree-with-neuroferritinopathy
#4
Wang Ni, Hong-Fu Li, Yi-Cen Zheng, Zhi-Ying Wu
Neuroferritinopathy is a rare autosomal dominant movement disorder caused by mutations of the FTL gene.(1) It is clinically characterized by adult-onset progressive extrapyramidal syndrome, including chorea, dystonia, and parkinsonism.(2) Brain MRI demonstrates the deposition of iron and ferritin in the basal ganglia.(3) To date, several Caucasian families and 2 Japanese families have been reported worldwide.(2) We present a Chinese neuroferritinopathy pedigree with 5 patients and the FTL mutation.
June 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27022507/neuroferritinopathy-pathophysiology-presentation-differential-diagnoses-and-management
#5
REVIEW
Niraj Kumar, Philippe Rizek, Mandar Jog
BACKGROUND: Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain 1 (FTL1) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. METHODS: A literature search was performed on Pubmed, for English-language articles, utilizing the terms iron metabolism, neurodegeneration with brain iron accumulation, and NF. The relevant articles were reviewed with a focus on the pathophysiology, clinical presentation, differential diagnoses, and management of NF...
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/26370076/self-assembly-is-prerequisite-for-catalysis-of-fe-ii-oxidation-by-catalytically-active-subunits-of-ferritin
#6
Kourosh Honarmand Ebrahimi, Peter-Leon Hagedoorn, Wilfred R Hagen
Fe(III) storage by ferritin is an essential process of the iron homeostasis machinery. It begins by translocation of Fe(II) from outside the hollow spherical shape structure of the protein, which is formed as the result of self-assembly of 24 subunits, to a di-iron binding site, the ferroxidase center, buried in the middle of each active subunit. The pathway of Fe(II) to the ferroxidase center has remained elusive, and the importance of self-assembly for the functioning of the ferroxidase center has not been investigated...
October 30, 2015: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/26149656/role-of-long-purine-stretches-in-controlling-the-expression-of-genes-associated-with-neurological-disorders
#7
Himanshu Narayan Singh, Moganty R Rajeswari
Purine repeat sequences present in the human genome are known to act as hotspots for mutations leading to chromosomal imbalances. It is established that large purine repeats (PRs) form stable DNA triplex structure which can inhibit gene expression. Friedreich's ataxia (FRDA), the autosomal neurodegenerative disorder is the only human disease known so far, where a large purine (GAA) repeat in the FXN gene is known to inhibit the expression of frataxin protein. We explored the hidden purine repeats (PRn with n ≥ 200) if any, in the human genome to find out how they are associated with neurological disorders...
November 10, 2015: Gene
https://www.readbyqxmd.com/read/26142024/voxel-based-analysis-in-neuroferritinopathy-expands-the-phenotype-and-determines-radiological-correlates-of-disease-severity
#8
M J Keogh, B S Aribisala, J He, E Tulip, D Butteriss, C Morris, G Gorman, R Horvath, P F Chinnery, Andrew M Blamire
Neuroferritinopathy is an autosomal dominant adult-onset movement disorder which occurs due to mutations in the ferritin light chain gene (FTL). Extensive iron deposition and cavitation are observed post-mortem in the basal ganglia, but whether more widespread pathological changes occur, and whether they correlate with disease severity is unknown. 3D-T1w and quantitative T2 whole brain MRI scans were performed in 10 clinically symptomatic patients with the 460InsA FTL mutation and 10 age-matched controls. Voxel-based morphometry (VBM) and voxel-based relaxometry (VBR) were subsequently performed...
October 2015: Journal of Neurology
https://www.readbyqxmd.com/read/25832658/cortical-pencil-lining-in-neuroferritinopathy-a-diagnostic-clue
#9
Amit Batla, Matthew E Adams, Roberto Erro, Christos Ganos, Bettina Balint, Niccolo E Mencacci, Kailash P Bhatia
No abstract text is available yet for this article.
April 28, 2015: Neurology
https://www.readbyqxmd.com/read/25772441/neuroferritinopathy-from-ferritin-structure-modification-to-pathogenetic-mechanism
#10
REVIEW
Sonia Levi, Ermanna Rovida
Neuroferritinopathy is a rare, late-onset, dominantly inherited movement disorder caused by mutations in L-ferritin gene. It is characterized by iron and ferritin aggregate accumulation in brain, normal or low serum ferritin levels and high variable clinical feature. To date, nine causative mutations have been identified and eight of them are frameshift mutations determined by nucleotide(s) insertion in the exon 4 of L-ferritin gene altering the structural conformation of the C-terminus of the L-ferritin subunit...
September 2015: Neurobiology of Disease
https://www.readbyqxmd.com/read/25689865/behavioral-characterization-of-mouse-models-of-neuroferritinopathy
#11
Sara Capoccia, Federica Maccarinelli, Barbara Buffoli, Luigi F Rodella, Ottavio Cremona, Paolo Arosio, Francesca Cirulli
Ferritin is the main intracellular protein of iron storage with a central role in the regulation of iron metabolism and detoxification. Nucleotide insertions in the last exon of the ferritin light chain cause a neurodegenerative disease known as Neuroferritinopathy, characterized by iron deposition in the brain, particularly in the cerebellum, basal ganglia and motor cortex. The disease progresses relentlessly, leading to dystonia, chorea, motor disability and neuropsychiatry features. The characterization of a good animal model is required to compare and contrast specific features with the human disease, in order to gain new insights on the consequences of chronic iron overload on brain function and behavior...
2015: PloS One
https://www.readbyqxmd.com/read/25447222/a-novel-neuroferritinopathy-mouse-model-ftl-498instc-shows-progressive-brain-iron-dysregulation-morphological-signs-of-early-neurodegeneration-and-motor-coordination-deficits
#12
Federica Maccarinelli, Antonella Pagani, Anna Cozzi, Franca Codazzi, Giuseppina Di Giacomo, Sara Capoccia, Stefania Rapino, Dario Finazzi, Letterio Salvatore Politi, Francesca Cirulli, Marco Giorgio, Ottavio Cremona, Fabio Grohovaz, Sonia Levi
Neuroferritinopathy is a rare genetic disease with a dominant autosomal transmission caused by mutations of the ferritin light chain gene (FTL). It belongs to Neurodegeneration with Brain Iron Accumulation, a group of disorders where iron dysregulation is tightly associated with neurodegeneration. We studied the 498-499InsTC mutation which causes the substitution of the last 9 amino acids and an elongation of extra 16 amino acids at the C-terminus of L-ferritin peptide. An analysis with cyclic voltammetry on the purified protein showed that this structural modification severely reduces the ability of the protein to store iron...
September 2015: Neurobiology of Disease
https://www.readbyqxmd.com/read/24949097/neuroferritinopathy-iron-in-the-brain
#13
John Burn
No abstract text is available yet for this article.
2014: Molecular Cytogenetics
https://www.readbyqxmd.com/read/24847269/neurodegeneration-with-brain-iron-accumulation-update-on-pathogenic-mechanisms
#14
REVIEW
Sonia Levi, Dario Finazzi
Perturbation of iron distribution is observed in many neurodegenerative disorders, including Alzheimer's and Parkinson's disease, but the comprehension of the metal role in the development and progression of such disorders is still very limited. The combination of more powerful brain imaging techniques and faster genomic DNA sequencing procedures has allowed the description of a set of genetic disorders characterized by a constant and often early accumulation of iron in specific brain regions and the identification of the associated genes; these disorders are now collectively included in the category of neurodegeneration with brain iron accumulation (NBIA)...
2014: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/24825732/a-novel-ferritin-light-chain-mutation-in-neuroferritinopathy-with-an-atypical-presentation
#15
Katsuya Nishida, Holly J Garringer, Naonobu Futamura, Itaru Funakawa, Kenji Jinnai, Ruben Vidal, Masaki Takao
Neuroferritinopathy or hereditary ferritinopathy is an inherited neurodegenerative disease caused by mutations in ferritin light chain (FTL) gene. The clinical features of the disease are highly variable, and include a movement disorder, behavioral abnormalities, and cognitive impairment. Neuropathologically, the disease is characterized by abnormal iron and ferritin depositions in the central nervous system. We report a family in which neuroferritinopathy begins with chronic headaches, later developing progressive orolingual and arm dystonia, dysarthria, cerebellar ataxia, pyramidal tract signs, and psychiatric symptoms...
July 15, 2014: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/24640980/differential-diagnosis-of-huntington-s-disease-what-the-clinician-should-know
#16
Francisco Cardoso
Huntington's disease (HD), an autosomal-dominant illness caused by an expansion of the CAG repeats on the short arm of chromosome 4, is clinically characterized by a combination of movement disorders, cognitive decline and behavioral changes. HD accounts for 90-99% of patients who present with this clinical picture. The remaining patients that are negative for the HD genetic mutation are said to have HD phenocopies. Autosomal-dominant diseases that can mimic HD are HD-like 2, C9orf72 mutations, spinocerebellar ataxia type 2, spinocerebellar ataxia type 17 (HD-like 4), benign hereditary chorea, neuroferritinopathy (neurodegeneration with brain iron accumulation type 3), dentatorubropallidoluysian atrophy and HD-like 1...
2014: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/24365357/disorders-of-heavy-metals
#17
REVIEW
France Woimant, Jean-Marc Trocello
Heavy metals and trace elements play an important role in relation to the physiology and pathology of the nervous system. Neurologic diseases related to disorders of metabolism of copper and iron are reviewed. Copper disorders are divided into two classes: ATP7A- or ATP7B-related inherited copper transport disorders (Menkes disease, occipital horn syndrome, ATP7A-related distal motor neuropathy, and Wilson disease) and acquired diseases associated with copper deficiency or copper excess. Iron brain disorders are divided into genetic neurodegeneration with brain iron accumulation (NBIA, neuroferritinopathy, and aceruloplasminemia), genetic systemic iron accumulation with neurologic features (hemochromatosis), and acquired diseases associated with iron excess (superficial siderosis) or iron deficiency (restless leg syndrome)...
2014: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/24209436/neuroferritinopathy
#18
REVIEW
Michael J Keogh, Christopher M Morris, Patrick F Chinnery
Neuroferritinopathy remains the only autosomal dominant syndrome of neurodegeneration with brain iron accumulation (NBIA). While the majority of identified cases appear to be part of an extended pedigree in the northeast of England, patients are increasingly being identified across the globe. Since its discovery in 2001, there have been significant developments in our understanding of the pathological, radiological, and clinical aspects of the condition, though several key pathomechanistic questions, and crucially treatment paradigms, remain unaddressed...
2013: International Review of Neurobiology
https://www.readbyqxmd.com/read/24102565/huntington-disease-and-huntington-disease-like-in-a-case-series-from-brazil
#19
R M Castilhos, A F D Souza, G V Furtado, T C Gheno, A L Silva, F R Vargas, M-A F D Lima, O Barsottini, J L Pedroso, C Godeiro, D Salarini, E T Pereira, K Lin, M-B Toralles, J A M Saute, C R Rieder, M Quintas, J Sequeiros, I Alonso, M L Saraiva-Pereira, L B Jardim
The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea-acanthocytosis (CHAC), in a series of Brazilian families. Patients were recruited in seven centers if they or their relatives presented at least chorea, besides other findings. Molecular studies of HTT, ATXN2, TBP, ATN1, JPH3, FTL, NKX2-1/TITF1 and VPS13A genes were performed...
October 2014: Clinical Genetics
https://www.readbyqxmd.com/read/23908629/abnormal-iron-homeostasis-and-neurodegeneration
#20
Barry B Muhoberac, Ruben Vidal
Abnormal iron metabolism is observed in many neurodegenerative diseases, however, only two have shown dysregulation of brain iron homeostasis as the primary cause of neurodegeneration. Herein, we review one of these - hereditary ferritinopathy (HF) or neuroferritinopathy, which is an autosomal dominant, adult onset degenerative disease caused by mutations in the ferritin light chain (FTL) gene. HF has a clinical phenotype characterized by a progressive movement disorder, behavioral disturbances, and cognitive impairment...
2013: Frontiers in Aging Neuroscience
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