HFE gene mutations in a population of Italian Parkinson's disease patients

Parkinsonism & Related Disorders - Tập 14 - Trang 426-430 - 2008
Giorgio Biasiotto1,2, Stefano Goldwurm3, Dario Finazzi1,2, Sara Tunesi3,4, Anna Zecchinelli3, Francesca Sironi3,5, Gianni Pezzoli3, Paolo Arosio1,2
1Dipartimento Materno Infantile e Tecnologie Biomediche, University of Brescia, Viale Europa 11, 25123 Brescia, Italy
2III Laboratorio di Analisi Chimico Cliniche, Spedali Civili di Brescia, Brescia, Italy
3Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy
4Institute of Medical Statistics and Biometry “G.A. Maccaro”, University of Milan, Milan, Italy
5Medical Genetics Laboratory, Foundation IRCCS “Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena”, Milan, Italy

Tài liệu tham khảo

Ke, 2003, Iron misregulation in the brain: a primary cause of neurodegenerative disorders, Lancet Neurol, 2, 246, 10.1016/S1474-4422(03)00353-3 Berg, 2006, Role of iron in neurodegenerative disorders, Top Magn Reson Imaging, 17, 5, 10.1097/01.rmr.0000245461.90406.ad Gregory, 2005, Neurodegeneration with brain iron accumulation, Folia Neuropathol, 43, 286 Gitlin, 1998, Aceruloplasminemia, Pediatr Res, 44, 271, 10.1203/00006450-199809000-00001 Curtis, 2001, Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease, Nat Genet, 28, 350, 10.1038/ng571 Zhou, 2001, A novel pantothenate kinase gene (PANK2) is defective in Hallervorden–Spatz syndrome, Nat Genet, 28, 345, 10.1038/ng572 LaVaute, 2001, Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice, Nat Genet, 27, 209, 10.1038/84859 Feder, 1996, A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis, Nat Genet, 13, 399, 10.1038/ng0896-399 Demarquay, 2000, Clinical report of three patients with hereditary hemochromatosis and movement disorders, Mov Disord, 15, 1204, 10.1002/1531-8257(200011)15:6<1204::AID-MDS1021>3.0.CO;2-T Berg, 2000, The basal ganglia in haemochromatosis, Neuroradiology, 42, 9, 10.1007/s002340050002 Burdo, 2003, Mechanisms and regulation of transferrin and iron transport in a model blood–brain barrier system, Neuroscience, 121, 883, 10.1016/S0306-4522(03)00590-6 Zecca, 2004, Iron, brain ageing and neurodegenerative disorders, Nat Rev Neurosci, 5, 863, 10.1038/nrn1537 Beutler, 2006, Hemochromatosis: genetics and pathophysiology, Annu Rev Med, 57, 331, 10.1146/annurev.med.57.121304.131310 Nemeth, 2006, Regulation of iron metabolism by hepcidin, Annu Rev Nutr, 26, 323, 10.1146/annurev.nutr.26.061505.111303 Wang, 2004, Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences, J Neurol Sci, 227, 27, 10.1016/j.jns.2004.08.003 Connor, 2006, HFE mutations and Alzheimer's disease, J Alzheimers Dis, 10, 267, 10.3233/JAD-2006-102-311 Borie, 2002, French Parkinson's disease gene tic study group. Association study between iron-related genes polymorphisms and Parkinson's disease, J Neurol, 249, 801 Buchanan, 2002, The Cys282Tyr polymorphism in the HFE gene in Australian Parkinson's disease patients, Neurosci Lett, 327, 91, 10.1016/S0304-3940(02)00398-1 Dekker, 2003, Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism, Neurosci Lett, 348, 117, 10.1016/S0304-3940(03)00713-4 Guerreiro, 2006, Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort, BMC Neurol, 6, 24, 10.1186/1471-2377-6-24 Akbas, 2006, Screening for mutations of the HFE gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra, Neurosci Lett, 407, 16, 10.1016/j.neulet.2006.07.070 Aamodt, 2007, Prevalence of haemochromatosis gene mutations in Parkinson's disease, J Neurol Neurosurg Psychiatry, 78, 315, 10.1136/jnnp.2006.101352 Hughes, 1992, Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases, J Neurol Neurosurg Psychiatry, 55, 181, 10.1136/jnnp.55.3.181 Hughes, 2001, Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease, Neurology, 57, 1497, 10.1212/WNL.57.8.1497 Goldwurm, 2006, LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample, Parkinsonism Relat Disord, 12, 410, 10.1016/j.parkreldis.2006.04.001 Fahn, 1987, Unified Parkinson disease rating scale, 153 Hoehn, 1967, Parkinsonism: onset, progression and mortality, Neurology, 17, 427, 10.1212/WNL.17.5.427 Sampietro, 2001, The hemochromatosis gene affects the age of onset of sporadic Alzheimer's disease, Neurobiol Aging, 22, 563, 10.1016/S0197-4580(01)00219-6 Candore, 2003, Association between the HFE mutations and unsuccessful ageing: a study in Alzheimer's disease patients from Northern Italy, Mech Ageing Dev, 124, 525, 10.1016/S0047-6374(03)00031-9 Cassanelli, 2001, Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy, J Hepatol, 34, 523, 10.1016/S0168-8278(01)00035-6 Biasiotto, 2003, Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individual with biochemical indications of iron overload, Clin Chem, 49, 1981, 10.1373/clinchem.2003.023440 Karimi, 2004, Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and the first E277K homozygous, Hematol J, 5, 524, 10.1038/sj.thj.6200553 Bradbury, 2000, Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE, Hum Mutat, 15, 120, 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU32>3.0.CO;2-B