#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Genetics of Atypical Parkinsonism


Authors: L. Mikulicova 1;  K. Menšíková 1;  T. Bartonikova 1;  L. Tučková 2;  R. Vodička 3;  R. Vrtěl 3;  P. Kaňovský 1
Authors‘ workplace: LF UP a FN Olomouc, Neurologická klinika 1;  LF UP a FN Olomouc, Ústav klinické a molekulární patologie 2;  LF UP a FN Olomouc, Ústav klinické a molekulární genetiky 3
Published in: Cesk Slov Neurol N 2017; 80/113(1): 34-42
Category: Review Article

Overview

Atypical parkinsonian syndromes include a diverse range of phenotypes characterized by the presence of the parkinsonian syndrome with variable accentuation of the different symptoms, motor, cognitive and behavioural, and with very variable course. Classification of these diseases is rapidly evolving, mainly owing to molecular genetics and clinical-pathological correlation.

Key words:
parkinsonian syndromes – genetics – frontotemporal dementia – multiple system atrophy – Lewy body disease – Parkinson´s disease – dementia – Perry syndrome – autosomal dominant spinocerebellar ataxia – atypical parkinsonian syndromes

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.


Sources

1. Farníková K, Bareš M, Nestrašil I, et al. Parkinsonian phenotypes –  towards new nosology of atypical parkinsonian syndromes. Cesk Slov Neurol N 2011;74/107 (6):641– 53.

2. Spil­lantini MG, Schmidt ML, Lee VM, et al. Alpha-synuclein in Lewy bodies. Nature 1997;388(6645):839– 40.

3. Kosaka K, Oyanagi S, Matsushita M, et al. Presenile dementia with Alzheimer-, Pick- and Lewy-body changes. Acta Neuropathol 1976;36(3):221– 33.

4. Emre M, Aarsland D, Brown R, et al. Clinical dia­gnostic criteria for dementia as­sociated with Parkinson‘s disease. Mov Disord 2007;22(12):1689– 707.

5. Kosaka K. Lewy body disease and dementia with Lewy bodies. Proc Jpn Acad Ser B Phys Biol Sci 2014;90(8):301– 6.

6. Emre M. Dementia as­sociated with Parkinson‘s dis­ease. Lancet Neurol 2003;2(4):229– 37.

7. McKeith IG, Galasko D, Kosaka K, et al. Consensus guidelines for the clinical and pathologic dia­gnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop. Neurology 1996;47(5):1113– 24.

8. Kalinderi K, Bostantjopoulou S, Fidani L. The genetic background of Parkinson‘s disease: cur­rent progress and future prospects. Acta Neurol Scand 2016;134(5):314– 26. doi: 10.1111/ ane.12563.

9. Menšíková K, Kaňovský P, Kaiserová M, et al. The chang­ing face of parkinsonian neurodegeneration, Cesk Slov Neurol N 2013;76/ 109(1):26– 34.

10. Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson‘s disease. Science 1997;276(5321):2045– 7.

11. Spil­lantini MG, Goedert M. Synucleinopathies: past, present and future. Neuropathol Appl Neurobio­l 2016;42(1):3– 5. doi: 10.1111/ nan.12311.

12. Proukakis C, Dudzik CG, Brier T, et al. A novel α-synuclein mis­sense mutation in Parkinson dis­ease. Neurology 2013;80(11):1062– 4. doi: 10.1212/ WNL.0b0 13e31828727ba.

13. Appel-Cres­swell S, Vilarino-Guell C, Encarnacion M et al. Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson‘s disease. Mov Disord 2013;28(6):811– 3. doi: 10.1002/ mds.25421.

14. Kiely AP, Asi YT, Kara E, et al. α-synucleinopathy as­sociated with G51D SNCA mutation: a link between Parkinson‘s disease and multiple system atrophy? Acta Neuropathol 2013;125(5):753– 69. doi: 10.1007/ s00401-013-1096-7.

15. Lesage S, Anheim M, Letournel F, et al. G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. Ann Neurol 2013;73(4):459– 71. doi: 10.1002/ ana.23894.

16. Cappel­letti G, Casagrande F, Calogero A, et al. Link­ing microtubules to Parkinson’s disease: the case of parkin. Biochem Soc Trans 2015;43:292– 6. doi: 10.1042/ BST20150007.

17. Gas­ser T, Mül­ler-Myhsok B, Wszolek ZK, et al. A susceptibility locus for Parkinson‘s disease maps to chromosome 2p13. Nat Genet 1998;18(3):262– 5.

18. West AB, Zimprich A, Lockhart PJ, et al. Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. Eur J Hum Genet 2001;9(9):659– 66.

19. Contu VR, Kotake Y, Toyama T, et al. Endogenous neurotoxic dopamine derivative covalently binds to Parkinson’s disease-as­sociated ubiquitin C-terminal hydrolase L1 and alters its structure and function. J Neurochem 2014;130:826– 38. doi: 10.1111/ jnc.12762.

20. Pickrell A, Youle RJ. The roles of PINK1, parkin and mitochondrial fidelity in Parkinson’s disease. Neuron 2015;85(2):257– 73. doi: 10.1016/ j.neuron.2014.12.007.

21. van Duijn CM, Dekker MC, Bonifati V, et al. Park7, a novel locus for autosomal reces­sive early-onset parkinsonism, on chromosome 1p36. Am J Hum Genet 2001;69(3):629– 34.

22. Bonifati V. LRRK2 low-penetrance mutations (Gly2019Ser) and risk al­leles (Gly2385Arg)-link­ing familial and sporadic Parkinson’s disease. Neurochem Res 2007;32(10):1700– 8.

23. Healy DG, Falchi M, O’Sul­livan SS, et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2--as­sociated, Parkinson’s disease: a case-control study. Lancet Neurol 2008;7(7):583– 90. doi: 10.1016/ S1474-4422(08)70117-0.

24. Wil­liams DR, Hadeed A, al-Din AS, et al. Kufor Rakeb dis­ease: autosomal reces­sive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov Disord 2005;20(10):1264– 71.

25. Behrens MI, Bruggemann N, Chana P, et al. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. Mov Disord 2010; 25(12):1929– 37. doi: 10.1002/ mds.22996.

26. Beecham GW, Dickson DW, Scott WK, et al. PARK10 is a major locus for sporadic neuropathological­ly confirmed Parkinson disease. Neurology 2015;84(10):972– 80. doi: 10.1212/ WNL.0000000000001332.

27. Lautier C, Goldwurm S, Dürr A, et al. Mutations in theGIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. Am J Hum Genet 2008;82(4):822– 33. doi: 10.1016/ j.ajhg.2008.01.015.

28. Li L, Funayama M, Tomiyama H, et al. No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients. Neurosci Lett 2010;479(3):245– 8.

29. Mor­rison BE, Marcondes MC, Nomura DK, et al. Cutt­ing edge: IL-13Rα1 expres­sion in dopaminergic neurons contributes to their oxidative stres­s-mediated loss fol­low­ing chronic peripheral treatment with lipopolysaccharide. J Im­munol 2012;189(12):5498– 502. doi: 10.4049/ jim­munol.1102150.

30. Strauss KM, Martins LM, Plun-Favreau H, et al. Loss of function mutations in the gene encod­ingOmi/ HtrA2 in Parkinson‘s disease. Hum Mol Genet 2005;14(15):2099– 111.

31. Schneider SA, Bhatia KP, Hardy J. Complicated reces­sive dystonia parkinsonism syndromes. Mov Disord 2009;24(4):490– 9. doi: 10.1002/ mds.22314.

32. Shojaee S, Sina F, Banihos­seini SS, et al. Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP ar­rays. Am J Hum Genet 2008;82(6):1375– 84. doi: 10.1016/ j.ajhg.2008.05.005.

33. Tucci A, Nal­ls MA, Houlden H, et al. Genetic variability at the PARK16 locus. Eur J Hum Genet 2010;18(12):1356– 9. doi: 10.1038/ ejhg.2010.125.

34. Zimprich A, Benet-Pages A, Struhal W, et al. A mutation in VPS35, encod­ing a subunit of the retromer complex, causes lateonset Parkinson disease. Am J Hum Genet 2011;89(1):168– 75. doi: 10.1016/ j.ajhg.2011.06.008.

35. Deng H, Wu Y, Jankovic J. The EIF4G1 gene and Parkinson’s disease. Acta Neurol Scand 2015;132(2):73– 8. doi: 10.1111/ ane.12397.

36. Koroglu C, Baysal L, Cetinkaya M, et al. DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. Parkinsonism Relat Disord 2013;19:320– 4. doi: 10.1016/ j.parkreldis.2012.11.006.

37. Olgiati S, De Rosa A, Quadri M, et al. PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family. Neurogenetics 2014;15(3):183– 8. doi: 10.1007/ s10048-014-0406-0.

38. Fogel BL, Clark MC, Geschwind DH. The neurogenetics of atypical parkinsonism. Semin Neurol 2014;34(2):217– 24. doi: 10.1055/ s-0034-1381738.

39. Richardson JC, Steele J, Olszewski J. Supranuclear ophthalmoplegia, pseudobulbar palsy, nuchal dystonia and dementia. A clinical report on eight cases of “heterogenous system degeneration”. Trans Am Neurol As­soc 1963;88:25– 9.

40. Wil­liams DR, Lees AJ. What features improve the accuracy of the clinical dia­gnosis of progres­sive supranuclear palsy-parkinsonism (PSP-P)? Mov Disord 2010;25(3):357– 62. doi: 10.1002/ mds.22977.

41. Wil­liams DR, Holton JL, Strand K, et al. Pure akinesia with gait freezing: a third clinical phenotype of progres­sive supranuclear palsy. Mov Disord 2007;22(15):2235– 41.

42. L­ing H, de Silva R, Mas­sey LA, et al. Characteristics of progres­sive supranuclear palsy present­ing with corticobasal syndrome: a cortical variant. Neuropathol Appl Neurobio­l 2014;40(2):149– 63. doi: 10.1111/ nan.12037.

43. Josephs KA, Duf­fy JR, Strand EA, et al. Clinicopathological and imag­ing cor­relates of progres­sive aphasia and apraxia of speech. Brain 2006;129(6):1385– 98.

44. Has­san A, Parisi JE, Josephs KA. Autopsy-proven progres­sive supranuclear palsy present­ing as behavioral variant frontotemporal dementia. Neurocase 2012;18(6):478– 88. doi: 10.1080/ 13554794.2011.627345.

45. Kanazawa M, Tada M, Onodera O, et al. Early clinical features of patients with progres­sive supranuclear palsy with predominant cerebel­lar ataxia. Parkinsonism Relat Disord 2013;19(12):1149– 51. doi: 10.1016/ j.parkreldis.2013.07.019.

46. Nagao S, Yokota O, Nanba R, et al. Progres­sive supranuclear palsy present­ing as primary lateral sclerosis but lack­ing parkinsonism, gaze palsy, aphasia, or dementia. J Neurol Sci 2012;323(1– 2):147– 53. doi: 10.1016/ j.jns.2012.09.005.

47. Höglinger GU, Melhem NM, Dickson DW, et al. Identification of com­mon variants influenc­ing risk of the tauopathy progres­sive supranuclear palsy. Nat Genet 2011; 43:699–705.

48. Fer­rari R, Ryten M, Simone R, et al. As­ses­sment of com­mon variability and expres­sion quantitative trait loci for genome-wide as­sociations for progres­sive supranuclear palsy. Neurobio­l Ag­ing 2014;35(6):1514e1– 12. doi: 10.1016/ j.neurobio­laging.2014.01.010.

49. Litvan I, Chism A, Litvan J, et al. H1/ H1 genotype influences symp­tom severity in corticobasal syndrome. Mov Disord 2010;25:760– 3. doi: 10.1002/ mds.22804.

50. Kouri N, Carlomagno Y, Baker M, et al. Novel mutation in MAPT exon 13 (p.N410H) cause corticobasal degeneration. Acta Neuropathol 2014;127(2):271– 82.

51. Josephs KA, Petersen RC, Knopman DS, et al. Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP. Neurology 2006;66(1):41– 8.

52. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncod­ing region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72(2):245– 56. doi: 10.1016/ j.neuron.2011.09.011.

53. Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72(2):257– 68. doi: 10.1016/ j.neuron.2011.09.010.

54. Bigio EH. C9ORF72, the new gene on the block, causes C9FTD/ ALS: new insights provided by neuropathology. Acta Neuropathol 2011;122(6):653– 5. doi: 10.1007/ s00401-011-0919-7.

55. van Gaalen J, Giunti P, van de War­renburg BP. Movement disorders in spinocerebel­lar ataxias. Mov Disord 2011;26(5):792– 800. doi: 10.1002/ mds.23584.

56. Freund HJ, Barnikol UB, Nolte D, et al. Subthalamic-thalamic DBS in a case with spinocerebel­lar ataxia type 2 and severe tremor-A unusual clinical benefit. Mov Disord 2007;22(5):732– 5.

57. Bettencourt C, Santos C, Coutinho P, et al. Parkinsonian phenotype in Machado-Joseph disease (MJD/ SCA3): a two-case report. BMC Neurol 2011;11:131. doi: 10.1186/ 1471-2377-11-131.

58. Musova Z, Kaiserova M, Kriegova E, et al. A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebel­lar ataxia. Cerebel­lum 2014;13(3):331– 7. doi: 10.1007/ s12311-013-0538-z.

59. Kohira I, Ujike H, Katsu T, et al. A case of spinocerebel­lar ataxia type 6 with hypochondriasis and severe parkinsonism. No To Shinkei 2001;53(12):1119– 22.

60. Muzar Z, Lozano R. Cur­rent research, dia­gnosis, and treatment of fragile X-as­sociated tremor/ ataxia syndrome. Intractable Rare Dis Res 2014;3(4):101– 9. doi: 10.5582/ irdr.2014.01029.

61. Steele JC, Guel­la I, Szu-Tu C, et al. Defin­ing neurodegeneration on Guam by targeted genomic sequencing. Ann Neurol 2015;77(3):458– 68. doi: 10.1002/ ana.24346.

62. Camuzat A, Romana M, Dürr A, et al. The PSP-as­sociated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism. Mov Disord 2008;23(16):2384– 91. doi: 10.1002/ mds.22297.

63. Aji BM, Medley G, O‘Driscoll K, et al. Per­ry syndrome: a disorder to consider in the dif­ferential dia­gnosis of Parkinsonism. J Neurol Sci 2013;330(1– 2):117– 8. doi: 10.1016/ j.jns.2013.04.008.

64. Brait K, Fahn S, Schwarz GA. Sporadic and familial parkinsonism and motor neuron disease. Neurology 1973;23(9):990– 1002.

65. Man­no C, Lipari A, Bono V, et al. Sporadic Parkinson disease and amyotrophic lateral sclerosis complex (Brait-Fahn-Schwarz disease). J Neurol Sci 2013;326(1– 2):104– 6. doi: 10.1016/ j.jns.2013.01.009.

66. Belin J, Gordon POH, Guen­noc AM, et al. Brait-Fahn-Schwarz disease: the mis­s­ing link between ALS and Parkinson’s disease. Amyotroph Lateral Scler Frontotemporal Degener 2015;16(1– 2):135– 6. doi: 10.3109/ 21678421.2014.948880.

67. Kovacs GG, Botond G, Budka H. Protein cod­ing of neurodegenerative dementias: the neuropathological basis of bio­marker dia­gnostics. Acta Neuropathol 2010;119(4):389– 408. doi: 10.1007/ s00401-010-0658-1.

68. Husárová I, Bareš M. Spinocerebelární ataxie. In: Menšíková K, Bareš M, Kaňovský P, eds. Atypické parkinsonské syndromy. Praha: Galén 2015:227– 38.

Labels
Paediatric neurology Neurosurgery Neurology

Article was published in

Czech and Slovak Neurology and Neurosurgery

Issue 1

2017 Issue 1

Most read in this issue
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#