Literature DB >> 16116125

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

P Maciel1, V T Cruz, M Constante, I Iniesta, M C Costa, S Gallati, N Sousa, J Sequeiros, P Coutinho, M M Santos.   

Abstract

The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis. This mutation was also present in his asymptomatic mother and younger brother, who had abnormally low levels of ferritin in the serum. The patient and his mother displayed bilateral involvement of the pallidum.

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Year:  2005        PMID： 16116125      PMCID： PMC2886026          DOI： 10.1212/01.wnl.0000178224.81169.c2

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  5 in total

1.  Palatal tremor and cognitive decline in neuroferritinopathy.

Authors:  A J Wills; G V Sawle; P R Guilbert; A R J Curtis
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-07       Impact factor: 10.154

2.  Neuroferritinopathy in a French family with late onset dominant dystonia.

Authors:  P F Chinnery; A R J Curtis; C Fey; A Coulthard; D Crompton; A Curtis; A Lombés; J Burn
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

3.  Regulated secretion of glycosylated human ferritin from hepatocytes.

Authors:  Sharmistha Ghosh; Sarah Hevi; Steven L Chuck
Journal:  Blood       Date:  2003-11-13       Impact factor: 22.113

4.  Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.

Authors:  A R Curtis; C Fey; C M Morris; L A Bindoff; P G Ince; P F Chinnery; A Coulthard; M J Jackson; A P Jackson; D P McHale; D Hay; W A Barker; A F Markham; D Bates; A Curtis; J Burn
Journal:  Nat Genet       Date:  2001-08       Impact factor: 38.330

5.  Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.

Authors:  R Vidal; B Ghetti; M Takao; C Brefel-Courbon; E Uro-Coste; B S Glazier; V Siani; M D Benson; P Calvas; L Miravalle; O Rascol; M B Delisle
Journal:  J Neuropathol Exp Neurol       Date:  2004-04       Impact factor: 3.685
  5 in total
  25 in total

Review 1.  Inborn errors of metabolism associated with psychosis: literature review and case-control study using exome data from 5090 adult individuals.

Authors:  Yannis J Trakadis; Vanessa Fulginiti; Mark Walterfang
Journal:  J Inherit Metab Dis       Date:  2017-02-16       Impact factor: 4.982

Review 2.  Pathogenic mechanism and modeling of neuroferritinopathy.

Authors:  Anna Cozzi; Paolo Santambrogio; Maddalena Ripamonti; Ermanna Rovida; Sonia Levi
Journal:  Cell Mol Life Sci       Date:  2021-01-13       Impact factor: 9.261

3.  Mutant L-chain ferritins that cause neuroferritinopathy alter ferritin functionality and iron permeability.

Authors:  Justin R McNally; Matthew R Mehlenbacher; Sara Luscieti; Gideon L Smith; Aliaksandra A Reutovich; Poli Maura; Paolo Arosio; Fadi Bou-Abdallah
Journal:  Metallomics       Date:  2019-10-16       Impact factor: 4.526

4.  Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation.

Authors:  Sara Luscieti; Paolo Santambrogio; Béatrice Langlois d'Estaintot; Thierry Granier; Anna Cozzi; Maura Poli; Bernard Gallois; Dario Finazzi; Angela Cattaneo; Sonia Levi; Paolo Arosio
Journal:  J Biol Chem       Date:  2010-02-16       Impact factor: 5.157

5.  Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration.

Authors:  Martin A Baraibar; Barry B Muhoberac; Holly J Garringer; Thomas D Hurley; Ruben Vidal
Journal:  J Biol Chem       Date:  2009-11-18       Impact factor: 5.157

Review 6.  Recent advances in our understanding of neurodegeneration.

Authors:  Kurt A Jellinger
Journal:  J Neural Transm (Vienna)       Date:  2009-06-05       Impact factor: 3.575

7.  Sonographic basal ganglia alterations are related to non-motor symptoms in multiple sclerosis.

Authors:  Sebastian Horowski; Uwe K Zettl; Reiner Benecke; Uwe Walter
Journal:  J Neurol       Date:  2010-08-26       Impact factor: 4.849

Review 8.  Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunities.

Authors:  Neena Singh; Swati Haldar; Ajai K Tripathi; Katharine Horback; Joseph Wong; Deepak Sharma; Amber Beserra; Srinivas Suda; Charumathi Anbalagan; Som Dev; Chinmay K Mukhopadhyay; Ajay Singh
Journal:  Antioxid Redox Signal       Date:  2013-08-15       Impact factor: 8.401

9.  Serum ferritin level changes in children with sickle cell disease on chronic blood transfusion are nonlinear and are associated with iron load and liver injury.

Authors:  Thomas V Adamkiewicz; Miguel R Abboud; Carole Paley; Nancy Olivieri; Melanie Kirby-Allen; Elliott Vichinsky; James F Casella; Ofelia A Alvarez; Julio C Barredo; Margaret T Lee; Rathi V Iyer; Abdullah Kutlar; Kathleen M McKie; Virgil McKie; Nadine Odo; Beatrice Gee; Janet L Kwiatkowski; Gerald M Woods; Thomas Coates; Winfred Wang; Robert J Adams
Journal:  Blood       Date:  2009-08-31       Impact factor: 22.113

10.  Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation.

Authors:  David Devos; P Jissendi Tchofo; Isabelle Vuillaume; Alain Destée; Stephanie Batey; John Burn; Patrick F Chinnery
Journal:  Brain       Date:  2008-10-14       Impact factor: 13.501
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