Overview of the New European federation of neurological societies' guidelines on molecular diagnosis of neurological disorders

European Neurological Review

Volumn 5, Issue 2, 2010, Pages 12-17

  Burgunder, Jean Marc ^a   Gasser, Thomas ^b   Harbo, Hanne F ^c   Finsterer, Josef ^d  

^a UNIVERSITY OF BERN   (Switzerland)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF OSLO   (Norway)

^d DANUBE UNIVERSITY KREMS   (Austria)

Author keywords

Genetic testing; Guideline; Hereditary disorder

Indexed keywords

EID: 84858262888     PISSN: 17583837     EISSN: 17583845     Source Type: Journal    
DOI: 10.17925/ENR.2010.05.02.12     Document Type: Article

References (76)

1. Gasser T, Dichgans M, Finsterer J, et al., EFNS Task Force on Molecular Diagnosis of Neurologic Disorders, Eur J Neurol, 2001;8:299-314.
2. Gasser T, Dichgans M, Finsterer J, et al., EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts, Eur J Neurol, 2001;8:407-24.
3. Harbo HF, Finsterer J, Baets J, et al., EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias, Eur J Neurol, 2009;16:777-85.
4. Gasser T, Finsterer J, Baets J, et al., EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias, Eur J Neurol, 2010;17:179-88.
5. Finsterer J, Harbo HF, Baets J, et al., EFNS guidelines on the molecular diagnosis of mitochondrial disorders, Eur J Neurol, 2009;16:1255-64.
6. Burgunder JM, Schols L, Baets J, et al., EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders, Eur J Neurol, 2010 [Epub ahead of print].
7. Burgunder JM, Finsterer J, Szolnoki Z, et al., EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias, Eur J Neurol, 2010;17:641-8.
8. Brainin M, Barnes M, Baron JC, et al., Guidance for the preparation of neurological management guidelines by EFNS scientific task forces - revised recommendations 2004, Eur J Neurol, 2004;11:577-81.
9. Novak MJ, Tabrizi SJ, Huntington's disease, BMJ, 2010;340:c3109.
10. The Huntington's Disease Collaborative Research Group, A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes, Cell, 1993;26:971-83.
11. Guidelines for the molecular genetics predictive test in Huntington's disease. IHA and the WFN Research Group on Huntington's Chorea, Neurology, 1994;44:1533-6.
12. Wild EJ, Mudanohwo EE, Sweeney MG, et al., Huntington's disease phenocopies are clinically and genetically heterogeneous, Mov Disord, 2008;23:716-20.
13. Polymeropoulos MH, Lavedan C, Leroy E, et al., Mutation in the alpha-synuclein gene identified in famiies with Parkinson's disease, Science, 1997;276:2045-7.
14. Chartier-Harlin MC, Kachergus J, Roumier C, et al., Alpha-synuclein locus duplication as a cause of familial Parkinson's disease, Lancet, 2004;364:1167-9.
15. Singleton AB, Farrer M, Johnson J, et al., alpha-Synuclein locus triplication causes Parkinson's disease, Science, 2003;302:841.
16. Gasser T, Molecular pathogenesis of Parkinson disease: insights from genetic studies, Expert Rev Mol Med, 2009;11: e22.
17. Berg D, Niwar M, Maass S, et al., Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients, Mov Disord, 2005;20:1191-4.
18. Ibanez P, Lesage S, Janin S, et al., Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms, Arch Neurol, 2009;66:102-8.
19. Berg D, Schweitzer K, Leitner P, et al., Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease, Brain, 2005;128:3000-11.
20. Gilks WP, Abou-Sleiman PM, Gandhi S, et al., A common LRRK2 mutation in idiopathic Parkinson's disease, Lancet, 2005;365:415-16.
21. Ozelius LJ, Senthil G, Saunders-Pullman R, et al., LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews, N Engl J Med, 2006;354:424-5.
22. Klein C, Schneider SA, Lang AE, Hereditary parkinsonism: Parkinson disease look-alikes - an algorithm for clinicians to 'PARK' genes and beyond, Mov Disord, 2009;24:2042-58.
23. Schmidt A, Klein C, The role of genes in causing dystonia, Eur J Neurol, 2010;17(Suppl. 1):65-70.
24. Kramer PL, Heiman GA, Gasser T, et al., The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews, Am J Hum Genet, 1994;55:468-75.
25. Ozelius LJ, Hewett JW, Page CE, et al., The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein, Nat Genet, 1997;17:40-8.
26. Ichinose H, Ohye T, Takahashi E, et al., Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene see comments, Nat Genet, 1994;8:236-42.
27. Zimprich A, Grabowski M, Asmus F, et al., Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome, Nat Genet, 2001;29:66-9.
28. Tanzi RE, Petrukhin K, Chernov I, et al., The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene, Nat Genet, 1993;5:344-50.
29. Soong BW, Paulson HL, Spinocerebellar ataxias: an update, Curr Opin Neurol, 2007;20:438-46.
30. Moseley ML, Benzow KA, Schut LJ, et al., Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families, Neurology, 1998;51:1666-71.
31. Silveira I, Miranda C, Guimaraes L, et al., Trinucleotide repeats in 202 families with ataxia, Arch Neurol, 2002;59: 623-9.
32. Brusco A, Gellera C, Cagnoli C, et al., Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families, Arch Neurol, 2004;61:727-33.
33. Fogel BL, Perlman S, Clinical features and molecular genetics of autosomal recessive cerebellar ataxias, Lancet Neurol, 2007;6:245-57.
34. Pandolfo M, Friedreich ataxia, Semin Pediatr Neurol, 2003;10:163-72.
35. Taylor AM, Byrd PJ, Molecular pathology of ataxia telangiectasia, J Clin Pathol, 2005;58:1009-15.
36. Le Ber I, Brice A, Durr A, New autosomal recessive cerebellar ataxias with oculomotor apraxia, Curr Neurol Neurosci Rep, 2005;5:411-7.
37. Salinas S, Proukakis C, Crosby A, Warner TT, Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms, Lancet Neurol, 2008;7:1127-38.
38. Patrono C, Scarano V, Cricchi F, et al., Autosomal dominant hereditary spastic paraplegia, Hum Mutat, 2005;25:506.
39. Durr A, Camuzat A, Colin E, et al., Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia, Arch Neurol, 2004;61:1867-72.
40. Woodward KJ, The molecular and cellular defects underlying Pelizaeus-Merzbacher disease, Expert Rev Mol Med, 2008;10:e14.
41. AGS, Genetic testing for late-onset Alzheimer's disease. AGS Ethics Committee, J Am Geriatr Soc, 2001;49:225-6.
42. Theuns J, Marjaux E, Vandenbulcke M, et al., Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment, Hum Mutat, 2006;27: 888-96.
43. Brouwers N, Sleegers K, Van Broeckhoven C, Molecular genetics of Alzheimer's disease: an update, Ann Med, 2008;40:562-83.
44. Le Ber I, van der Zee J, Hannequin D, et al., Progranulin null mutations in both sporadic and familial frontotemporal dementia, Hum Mutat, 2007;28: 846-55.
45. Goldman JS, Farmer JM, Wood EM, et al., Comparison of family histories in FTLD subtypes and related tauopathies, Neurology, 2005;65:1817-9.
46. Markus HS, Unravelling the genetics of ischaemic stroke, PLoS Med, 2010;7:e1000225.
47. Matarin M, Singleton A, Hardy J, Meschia J, The genetics of ischaemic stroke, J Intern Med. 2010;267:139-55.
48. Chabriat H, Joutel A, Dichgans M, et al., Cadasil, Lancet Neurol, 2009;8:643-53.
49. Pantoni L, Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges, Lancet Neurol, 2010;9:689-701.
50. Labauge P, Krivosic V, Denier C, et al., Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas, Arch Ophthalmol, 2006;124:885-6.
51. Platt D, Griggs R, Skeletal muscle channelopathies: new insights into the periodic paralyses and non-dystrophic myotonias, Curr Opin Neurol, 2009;22:524-31.
52. Baulac S, Baulac M, Advances on the genetics of mendelian idiopathic epilepsies, Clin Lab Med, 2010;30: 911-29.
53. Meisler MH, O'Brien JE, Sharkey LM, Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects, J Physiol, 2010;588:1841-8.
54. de Vries B, Frants RR, Ferrari MD, van den Maagdenberg AM, Molecular genetics of migraine, Hum Genet, 2009;126:115-32.
55. Martyn CN, Hughes RA, Epidemiology of peripheral neuropathy, J Neurol Neurosurg Psychiatry, 1997;62: 310-18.
56. Dubourg O, Azzedine H, Verny C, et al., Autosomalrecessive forms of demyelinating Charcot-Marie-Tooth disease, Neuromolecular Med, 2006;8:75-86.
57. Szigeti K, Nelis E, Lupski JR, Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies, Neuromolecular Med, 2006;8:243-54.
58. Schymick JC, Talbot K, Traynor BJ, Genetics of sporadic amyotrophic lateral sclerosis, Hum Mol Genet, 2007;16: R233-42.
59. Bushby K, Finkel R, Birnkrant DJ, et al., Diagnosis and management of Duchenne muscular dystrophy, part 1, Lancet Neurol, 2010;9:77-93.
60. Padberg GW, van Engelen BG, Facioscapulohumeral muscular dystrophy, Curr Opin Neurol, 2009;22:539-42.
61. Turner C, Hilton-Jones D, The myotonic dystrophies: diagnosis and management, J Neurol Neurosurg Psychiatry, 2010;81:358-67.
62. Bushby K, Diagnosis and management of the limb girdle muscular dystrophies, Pract Neurol, 2009;9:314-23.
63. McFarland R, Taylor RW, Turnbull DM, A neurological perspective on mitochondrial disease, Lancet Neurol, 2010;9:829-40.
64. Wu YT, Wu SB, Lee WY, Wei YH, Mitochondrial respiratory dysfunction-elicited oxidative stress and posttranslational protein modification in mitochondrial diseases, Ann N Y Acad Sci, 2010;1201:147-56.
65. Tang S, Huang T, Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system, Biotechniques, 2010;48:287-96.
66. Zeviani M, Moraes CT, DiMauro S, et al., Deletions of mitochondrial DNA in Kearns-Sayre syndrome, Neurology, 1988;38:1339-46.
67. Holt IJ, Harding AE, Morgan-Hughes JA, Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies, Nature, 1988;331:717-9.
68. Rotig A, Colonna M, Bonnefont JP, et al., Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome, Lancet, 1989;1:902-3.
69. Wallace DC, Singh G, Lott MT, et al., Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy, Science, 1988;242:1427-30.
70. Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA, A new mitochondrial disease associated with mitochondrial DNA heteroplasmy, Am J Hum Genet, 1990;46:428-33.
71. Tatuch Y, Christodoulou J, Feigenbaum A, et al., Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high, Am J Hum Genet, 1992;50:852-8.
72. Goto Y, Horai S, Matsuoka T, et al., Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), Neurology, 1992;42: 545-50.
73. Shoffner JM, Lott MT, Lezza AM, et al., Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation, Cell, 1990;61:931-7.
74. Nishino I, Spinazzola A, Hirano M, Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder, Science, 1999;283:689-92.
75. Alexander C, Votruba M, Pesch UE, et al., OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28, Nat Genet, 2000;26:211-5.
76. Hakonen AH, Goffart S, Marjavaara S, et al., Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion, Hum Mol Genet, 2008;17:3822-35.