Absence of an orphan mitochondrial protein, C19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

American Journal of Human Genetics

Volumn 89, Issue 4, 2011, Pages 543-550

  Hartig, Monika B ^a,b   Iuso, Arcangela ^b   Haack, Tobias ^a,b   Kmiec, Tomasz ^c   Jurkiewicz, Elzbieta ^c   Heim, Katharina ^b   Roeber, Sigrun ^d   Tarabin, Victoria ^e   Dusi, Sabrina ^f   Krajewska Walasek, Malgorzata ^c   Jozwiak, Sergiusz ^c   Hempel, Maja ^a,b   Winkelmann, Juliane ^a,b   Elstner, Matthias ^b,d   Oexle, Konrad ^a   Klopstock, Thomas ^d   Mueller Felber, Wolfgang ^g   Gasser, Thomas ^h   Trenkwalder, Claudia ⁱ   Tiranti, Valeria ^f   Kretzschmar, Hans ^d   Schmitz, Gerd ^e   Strom, Tim M ^a,b   Meitinger, Thomas ^a,b   Prokisch, Holger ^a,b   more..

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^d UNIVERSITY OF MUNICH   (Germany)

^e UNIVERSITY OF REGENSBURG   (Germany)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

^g LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^h GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

ⁱ UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL PROTEIN; PANTOTHENATE KINASE 2; POLYCLONAL ANTIBODY; PROTEIN C19ORF12; UNCLASSIFIED DRUG;

AGE DISTRIBUTION; ALLELE; ARTICLE; DISEASE COURSE; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MITOCHONDRIAL TARGETING SIGNAL; MOTOR NEUROPATHY; NERVE FIBER; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PARKINSON DISEASE; PREVALENCE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BRAIN; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CLONING, MOLECULAR; COHORT STUDIES; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; IRON; MALE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NEURODEGENERATIVE DISEASES; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 80053916609     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.09.007     Document Type: Article

References (15)

1. A. Gregory, and S.J. Hayflick Genetics of neurodegeneration with brain iron accumulation Curr. Neurol. Neurosci. Rep. 11 2011 254 261
2. B. Zhou, S.K. Westaway, B. Levinson, M.A. Johnson, J. Gitschier, and S.J. Hayflick A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome Nat. Genet. 28 2001 345 349 (Pubitemid 32702423)
3. K. Hörtnagel, H. Prokisch, and T. Meitinger An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria Hum. Mol. Genet. 12 2003 321 327 (Pubitemid 36204428)
4. N.V. Morgan, S.K. Westaway, J.E. Morton, A. Gregory, P. Gissen, S. Sonek, H. Cangul, J. Coryell, N. Canham, and N. Nardocci PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron Nat. Genet. 38 2006 752 754 (Pubitemid 43980594)
5. C. Paisan-Ruiz, K.P. Bhatia, A. Li, D. Hernandez, M. Davis, N.W. Wood, J. Hardy, H. Houlden, A. Singleton, and S.A. Schneider Characterization of PLA2G6 as a locus for dystonia-parkinsonism Ann. Neurol. 65 2009 19 23
6. M.C. Kruer, C. Paisán-Ruiz, N. Boddaert, M.Y. Yoon, H. Hama, A. Gregory, A. Malandrini, R.L. Woltjer, A. Munnich, and S. Gobin Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) Ann. Neurol. 68 2010 611 618
7. S. Edvardson, H. Hama, A. Shaag, J.M. Gomori, I. Berger, D. Soffer, S.H. Korman, I. Taustein, A. Saada, and O. Elpeleg Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia Am. J. Hum. Genet. 83 2008 643 648
8. A.J. Hughes, S.E. Daniel, L. Kilford, and A.J. Lees Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases J. Neurol. Neurosurg. Psychiatry 55 1992 181 184
9. M.J. Lindstrom, and D.M. Bates Newton-Raphson and EM Algorithms for Linear Mixed-Effects Models for Repeated-Measures Data J. Am. Stat. Assoc. 83 1988 1014 1022
10. G.R. Abecasis, S.S. Cherny, W.O. Cookson, and L.R. Cardon Merlin - rapid analysis of dense genetic maps using sparse gene flow trees Nat. Genet. 30 2002 97 101
11. M.B. Hartig, K. Hörtnagel, B. Garavaglia, G. Zorzi, T. Kmiec, T. Klopstock, K. Rostasy, M. Svetel, V.S. Kostic, and M. Schuelke Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation Ann. Neurol. 59 2006 248 256 (Pubitemid 43202477)
12. J. Hardy Genetic analysis of pathways to Parkinson disease Neuron 68 2010 201 206
13. C. Meisinger, H. Prokisch, C. Gieger, N. Soranzo, D. Mehta, D. Rosskopf, P. Lichtner, N. Klopp, J. Stephens, and N.A. Watkins A genome-wide association study identifies three loci associated with mean platelet volume Am. J. Hum. Genet. 84 2009 66 71
14. K.D. Pruitt, T. Tatusova, W. Klimke, and D.R. Maglott NCBI Reference Sequences: current status, policy and new initiatives Nucleic Acids Res. 37 Database issue 2009 D32 D36
15. V. Ramensky, P. Bork, and S. Sunyaev Human non-synonymous SNPs: server and survey Nucleic Acids Res. 30 2002 3894 3900 (Pubitemid 35012462)