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

Brain

Volumn 132, Issue 6, 2009, Pages

  Devos, David ^a   Tchofo, P Jissendi ^b   Vuillaume, Isabelle ^b   Deste, Alain ^a   Batey, Stephanie ^c   Burn, John ^d   Chinnery, Patrick F ^d,e,f  

^a Department of Neurology and Movement Disorders ^*  (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; APOFERRITIN; FERRITIN; FTL PROTEIN, HUMAN;

ADULT; AGED; APNEA; CEREBELLAR ATAXIA; CLINICAL FEATURE; DEPRESSION; DISEASE COURSE; DYSPHAGIA; DYSTONIA; FEMALE; FERRITIN LIGHT POLYPEPTIDE GENE; FUNCTIONAL MAGNETIC RESONANCE IMAGING; GENE; GENE MUTATION; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; MOTOR DYSFUNCTION; NEUROFERRITINOPATHY; PARKINSON DISEASE; PRIORITY JOURNAL; RESPIRATORY FAILURE; DYSTONIC DISORDER; GENETICS; METABOLISM; MUTATION; NOTE; PHENOTYPE;

ADULT; APOFERRITINS; DISEASE PROGRESSION; DYSTONIC DISORDERS; FEMALE; FERRITINS; HUMANS; MALE; MUTATION; PHENOTYPE; YOUNG ADULT;

EID: 67649414590     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awn274     Document Type: Letter

References (5)

1. Caparros-Lefebvre D, Destee A, Petit H. Late onset familial dystonia: could mitochondrial deficits induce a diffuse lesioning process of the whole basal ganglia system? J Neurol Neurosurg Psychiatry 1997; 63: 196-203.
2. Chinnery PF, Crompton DE, Birchall D, Jackson MJ, Coulthard A, Lombes A, et al. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain 2007; 130: 110-19.
3. Chinnery PF, Curtis AR, Fey C, Coulthard A, Crompton D, Curtis A, et al. Neuroferritinopathy in a French family with late onset dominant dystonia. J Med Genet 2003; 40: e69.
4. Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 2001; 28: 350-4.
5. Maciel P, Cruz VT, Constante M, Iniesta I, Costa MC, Gallati S, et al. Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology 2005; 65: 603-5.