Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples

Neurology

Volumn 78, Issue 13, 2012, Pages 1016-1024

  Marras, Connie ^a   Lohmann, Katja ^b   Lang, Anthony ^a   Klein, Christine ^b  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY OF LÜBECK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DYSKINESIA; DYSTONIA; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MONOGENIC DISORDER; PARKINSON DISEASE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT;

EID: 84860811822     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31824d58ab     Document Type: Review

References (29)

1. Kramer PL, de Leon D, Ozelius L, et al. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol 1990;27:114-120. (Pubitemid 20086628)
2. Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-48. (Pubitemid 27377530)
3. Satake W, Nakabayashi Y, Mizuta I, et al. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet 2009;41:1303-1307.
4. Simon-Sanchez J, Schulte C, Bras JM, et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 2009;41:1308-1312.
5. Manolio TA, Brooks LD, Collins FS. A HapMap harvest of insights into the genetics of common disease. J Clin Invest 2008;118:1590-1605. (Pubitemid 351632361)
6. Hicks AA, Petursson H, Jonsson T, et al. A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann Neurol 2002;52:549-555. (Pubitemid 35246857)
7. Hamza TH, Zabetian CP, Tenesa A, et al. Common genetic variation in the HLA region is associated with lateonset sporadic Parkinson's disease. Nat Genet 2010;42: 781-785.
8. Consortium IPDG. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: A meta-analysis of genome-wide association studies. Lancet 2011;377:641-649.
9. Wickremaratchi MM, Perera D, O'Loghlen C, et al. Prevalence and age of onset of Parkinson's disease in Cardiff: A community based cross sectional study and meta-analysis. J Neurol Neurosurg Psychiatry 2009;80:805-807.
10. Brüggemann N, Klein C. Genetics of primary torsion dystonia. Curr Neurol Neurosci Rep 2010;10:199-206.
11. Bonafe L, Thony B, Penzien JM, et al. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterindependent monoamine- neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 2001;69:269-277. (Pubitemid 32695200)
12. Valente EM, Bentivoglio AR, Cassetta E, et al. DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranialcervical or upper limb onset. Ann Neurol 2001;49:362-366. (Pubitemid 32202790)
13. Leroy E, Boyer R, Auburger G, et al. The ubiquitin pathway in Parkinson's disease. Nature 1998;395:451-452.
14. Farrer M, Gwinn-Hardy K, Muenter M, et al. A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet 1999;8:81-85. (Pubitemid 29039051)
15. Singleton AB, Farrer M, Johnson J, et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science 2003; 302:841. (Pubitemid 37339619)
16. Grotzsch H, Pizzolato GP, Ghika J, et al. Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14. Neurology 2002;58:1839-1842. (Pubitemid 34663588)
17. Wider C, Melquist S, Hauf M, et al. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: Redefining DYT14 as DYT5. Neurology 2008;70:1377-1383. (Pubitemid 351521928)
18. Zlotogora J. Autosomal recessive, DYT2-like primary torsion dystonia: A new family. Neurology 2004;63:1340. (Pubitemid 39350055)
19. Moretti P, Hedera P, Wald J, Fink J. Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family. Mov Disord 2005;20:245-247. (Pubitemid 40361133)
20. Khan NL, Wood NW, Bhatia KP. Autosomal recessive, DYT2-like primary torsion dystonia: A new family Neurology 2003;61:1801-1803. (Pubitemid 38020836)
21. Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008;118:2157-2168. (Pubitemid 351872334)
22. Auburger G, Ratzlaff T, Lunkes A, et al. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cMbetween D1S443 and D1S197. Genomics 1996;31:90-94.
23. Weber YG, Kamm C, Suls A, et al. Paroxysmal choreoathetosis/ spasticity (DYT9) is caused by a GLUT1 defect. Neurology 2011;77:959-964.
24. Müller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
25. Ioannidis JP, Boffetta P, Little J, et al. Assessment of cumulative evidence on genetic associations: Interim guidelines. Int J Epidemiol 2008;37:120-132. (Pubitemid 351228620)
26. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461: 747-753.
27. Durbin RM, Abecasis GR, Altshuler DL, et al. A map of human genome variation from population-scale sequencing. Nature 2010;467:1061-1073.
28. Norgren N, Mattson E, Forsgren L, Holmberg M. A highpenetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3. Neurogenetics 2011;12:137-143.
29. Lesage S, Brice A. Parkinson's disease: From monogenic forms to genetic susceptibility factors. Hum Mol Genet 2009;18:R48-R59.