Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

Brain

Volumn 130, Issue 1, 2007, Pages 110-119

  Chinnery, Patrick F ^a,i   Crompton, Douglas E ^a   Birchall, Daniel ^b   Jackson, Margaret J ^a   Coulthard, Alan ^b,g   Lombès, Anne ^h   Quinn, Niall ^c   Wills, Adrian ^d   Fletcher, Nicholas ^e   Mottershead, John P ^f   Cooper, Paul ^f   Kellett, Mark ^f   Bates, David ^a   Burn, John ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

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

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d QUEEN S MEDICAL CENTRE   (United Kingdom)

^e WALTON CENTRE FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^f HOPE HOSPITAL   (United Kingdom)

^g UNIVERSITY OF QUEENSLAND   (Australia)

^h INSERM   (France)

ⁱ NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Chorea; Dystonia; Ferritin; Iron; Movement disorder; Neurodegeneration; Neuroferritinopathy

Indexed keywords

FERRITIN;

ADOLESCENT; ADULT; ARTICLE; CHOREA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DYSTONIA; FAMILY HISTORY; FEMALE; FERRITIN BLOOD LEVEL; FERRITIN LIGHT CHAIN GENE; FOLLOW UP; GENE; GENE MUTATION; HUMAN; HUNTINGTON CHOREA; LABORATORY TEST; MALE; MOTOR DYSFUNCTION; MUSCLE BIOPSY; NEUROFERRITINOPATHY; NEUROIMAGING; ONSET AGE; PARKINSONISM; POSTMENOPAUSE; PREMENOPAUSE; PRIORITY JOURNAL;

EID: 33845899114     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl319     Document Type: Article

References (29)

1. Barragan-Campos HM, Vallee JN, Lo D, Barrera-Ramirez CF, Argote-Greene M, Sanchez-Guerrero J, et al. Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. Arch Neurol 2005; 62: 737-42.
2. Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000; 54: 1746-1752.
3. 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.
4. 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.
5. Craig K, Keers SM, Walls TJ, Curtis A, Chinnery PF. Minimum prevalence of spinocerebellar ataxia 17 in the north east of England. J Neurol Sci 2005; 239: 105-9.
6. Crompton DE, Chinnery PF, Bates D, Walls TJ, Jackson MJ, Curtis AJ, et al. Spectrum of movement disorders in neuroferritinopathy. Mov Disord 2005; 20: 95-9.
7. 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.
8. Fink JK, Filling-Katz MR, Sokol J, Cogan DG, Pikus A, Sonies B, et al. Clinical spectrum of Niemann-Pick disease type C. Neurology 1989; 39: 1040-9.
9. Grisoli M, Piperno A, Chiapparini L, Mariani R, Savoiardo M. MR imaging of cerebral cortical involvement in aceruloplasminemia. AJNR Am J Neuroradiol 2005; 26: 657-61.
10. Hanna MG, Bhatia KP. Movement disorders and mitochondrial dysfunction. Curr Opin Neurol 1997; 10: 351-6.
11. Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003; 348: 33-40.
12. Ho M, Chelly J, Carter N, Danek A, Crocker P, Monaco AP. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 1994; 77: 869-80.
13. Jellinger KA. The role of iron in neurodegeneration: prospects for pharmacotherapy of Parkinson's disease. Drugs Aging 1999; 14: 115-40.
14. Lucking CB, Durr A, Bonifati V, Vaughan J, De Michele G, Gasser T, et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group. N Engl J Med 2000; 342: 1560-7.
15. 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.
16. Mancuso M, Davidzon G, Kurlan RM, Tawil R, Bonilla E, Di Mauro S, et al. Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. J Neuropathol Exp Neurol 2005; 64: 280-94.
17. Margolis RL, O'Hearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML, et al. A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Ann Neurol 2001; 50: 373-80.
18. Massman PJ, Delis DC, Butters N, Levin BE, Salmon DP. Are all subcortical dementias alike? Verbal learning and memory in Parkinson's and Huntington's disease patients. J Clin Exp Neuropsychol 1990; 12: 729-44.
19. McFarland R, Taylor RW, Turnbull DM. The neurology of mitochondrial DNA disease. Lancet Neurol 2002; 1: 343-51.
20. Mir P, Edwards MJ, Curtis AR, Bhatia KP, Quinn NP. Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene. Mov Disord 2005; 20: 243-5.
21. Morita H, Ikeda S, Yamamoto K, Morita S, Yoshida K, Nomoto S, et al. Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. Ann Neurol 1995; 37: 646-56.
22. Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 2001; 10: 1441-8.
23. Pillon B, Dubois B, Agid Y. Severity and specificity of cognitive impairment in Alzheimer's, Huntington's, and Parkinson's diseases and progressive supranuclear palsy. Ann NY Acad Sci 1991; 640: 224-7.
24. Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, et al. A conserved sorting-associated protein is mutant in choreaacanthocytosis. Nat Genet 2001; 28: 119-20.
25. Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003; 54: 367-75.
26. Tassin J, Durr A, Bonnet AM, Gil R, Vidailhet M, Lucking CB, et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain 2000; 123: 1112-21.
27. Taylor RW, Turnbull DM. Laboratory diagnosis of mitochondrial disease. In: Applegarth DA, Dimmick J, Hall JG, editors. Organelle diseases. London: Chapman & Hall; 1997. p. 341-50.
28. Vidal R, Ghetti B, Takao M, Brefel-Courbon C, Uro-Coste E, Glazier BS, et al. Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. J Neuropathol Exp Neurol 2004; 63: 363-80.
29. Wills AJ, Sawle GV, Guilbert PR, Curtis AR. Palatal tremor and cognitive decline in neuroferritinopathy. J Neurol Neurosurg Psychiatry 2002; 73: 91-2.