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Current Neurology and Neuroscience Reports

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Open Access 01-09-2017 | Genetics (V Bonifati, Section Editor)

New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

Author: Andreas Puschmann

Published in: Current Neurology and Neuroscience Reports | Issue 9/2017

Abstract

Purpose of Review

This article reviews genes where putative or confirmed pathogenic mutations causing Parkinson’s disease or Parkinsonism have been identified since 2012, and summarizes the clinical and pathological picture of the associated disease subtypes.

Recent Findings

Newly reported genes for dominant Parkinson’s disease are DNAJC13, CHCHD2, and TMEM230. However, the evidence for a disease-causing role is not conclusive, and further genetic and functional studies are warranted. RIC3 mutations have been reported from one family but not yet encountered in other patients. New genes for autosomal recessive disease include SYNJ1, DNAJC6, VPS13C, and PTRHD1. Deletions of a region on chromosome 22 (22q11.2del) are also associated with early-onset PD, but the mode of inheritance and the underlying causative gene remain unclear. PODXL mutations were reported in autosomal recessive PD, but their roles remain to be confirmed. Mutations in RAB39B cause an X-linked Parkinsonian disorder.

Summary

Mutations in the new dominant PD genes have generally been found in medium- to late-onset Parkinson’s disease. Many mutations in the new recessive and X-chromosomal genes cause severe atypical juvenile Parkinsonism, but less devastating mutations in these genes may cause PD.

Bonifati V. Genetics of Parkinson’s disease—state of the art, 2013. Parkinsonism Relat Disord. 2014;20(Suppl 1):S23–8.PubMedCrossRef

Puschmann A. Monogenic Parkinson’s disease and parkinsonism: clinical phenotypes and frequencies of known mutations. Parkinsonism Relat Disord. 2013;19(4):407–15.PubMedCrossRef

Singleton AB, Farrer MJ, Bonifati V. The genetics of Parkinson’s disease: progress and therapeutic implications. Mov Disord. 2013;28(1):14–23.PubMedPubMedCentralCrossRef

Puschmann A, Wszolek Z. Genotype-phenotype correlations in Parkinson disease. In: LeDoux MS, editor. Movement disorders: genetics and models. 2 ed. Elsevier; 2013.

Lill CM. Genetics of Parkinson’s disease. Mol Cell Probes. 2016;30(6):386–96.PubMedCrossRef

Ferreira M, Massano J. An updated review of Parkinson’s disease genetics and clinicopathological correlations. Acta Neurol Scand. 2017;135(3):273–84.PubMedCrossRef

•• Vilarino-Guell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, Trinh J, et al. DNAJC13 mutations in Parkinson disease. Hum Mol Genet. 2014;23(7):1794–801. In this article, Vilariño-Güell et al. describe the first discovery of variants in DNAJC13 as causes of PD. PubMedCrossRef

Gustavsson EK, Trinh J, Guella I, Vilarino-Guell C, Appel-Cresswell S, Stoessl AJ, et al. DNAJC13 genetic variants in parkinsonism. Mov Disord. 2015;30(2):273–8.PubMedCrossRef

Foo JN, Liany H, Tan LC, Au WL, Prakash KM, Liu J, et al. DNAJ mutations are rare in Chinese Parkinson’s disease patients and controls. Neurobiol Aging. 2014;35(4):935.e1–2.CrossRef

10.

Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza AI, Labbe C, Walton RL, Strongosky AJ, et al. DNAJC13 p.Asn855Ser mutation screening in Parkinson’s disease and pathologically confirmed Lewy body disease patients. Eur J Neurol. 2015;22(9):1323–5.PubMedPubMedCentralCrossRef

11.

Ross JP, Dupre N, Dauvilliers Y, Strong S, Ambalavanan A, Spiegelman D, et al. Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease. Neurobiol Aging. 2016;45:212.e13–7.CrossRef

12.

Appel-Cresswell S, Rajput AH, Sossi V, Thompson C, Silva V, McKenzie J, et al. Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S parkinsonism. Mov Disord. 2014;29(13):1684–7.PubMedCrossRef

13.

•• Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, et al. CHCHD2 mutations in autosomal dominant late-onset Parkinson’s disease: a genome-wide linkage and sequencing study. Lancet Neurol. 2015;14(3):274–82. This paper describes Funayama et al.’s discovery of CHCHD2 mutations as the cause for dominant PD, and, in one patient, tremor only. PubMedCrossRef

14.

Shi CH, Mao CY, Zhang SY, Yang J, Song B, Wu P, et al. CHCHD2 gene mutations in familial and sporadic Parkinson’s disease. Neurobiol Aging. 2016;38:217 e9–13.CrossRef

15.

Mao CY, Wu P, Zhang SY, Yang J, Liu YT, Zuo CT, et al. Brain glucose metabolism changes in Parkinson’s disease patients with CHCHD2 mutation based on (18)F-FDG PET imaging. J Neurol Sci. 2016;369:303–5.PubMedCrossRef

16.

Koschmidder E, Weissbach A, Bruggemann N, Kasten M, Klein C, Lohmann K. A nonsense mutation in CHCHD2 in a patient with Parkinson disease. Neurology. 2016;86(6):577–9.PubMedCrossRef

17.

Jansen IE, Bras JM, Lesage S, Schulte C, Gibbs JR, Nalls MA, et al. CHCHD2 and Parkinson’s disease. Lancet Neurol. 2015;14(7):678–9.PubMedCrossRef

18.

Ogaki K, Koga S, Heckman MG, Fiesel FC, Ando M, Labbe C, et al. Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders. Neurology. 2015;85(23):2016–25.PubMedPubMedCentralCrossRef

19.

Foo JN, Liu J, Tan EK. CHCHD2 and Parkinson’s disease. Lancet Neurol. 2015;14(7):681–2.PubMedCrossRef

20.

Gagliardi M, Iannello G, Colica C, Annesi G, Quattrone A. Analysis of CHCHD2 gene in familial Parkinson’s disease from Calabria. Neurobiol Aging. 2017;50:169 e5–6.CrossRef

21.

Puschmann A, Dickson DW, Englund E, Wszolek ZK, Ross OA. CHCHD2 and Parkinson’s disease. Lancet Neurol. 2015;14(7):679.PubMedCrossRef

22.

Gao C, Chen YM, Sun Q, He YC, Huang P, Wang T, et al. Mutation analysis of CHCHD2 gene in Chinese Han familial essential tremor patients and familial Parkinson’s disease patients. Neurobiol Aging. 2017;49:218 e9–e11.CrossRef

23.

Tejera-Parrado C, Jesus S, Huertas-Fernandez I, Bernal-Bernal I, Bonilla-Toribio M, Cordoba-Tevar I, et al. Genetic analysis of CHCHD2 in a southern Spanish population. Neurobiol Aging. 2017;50:169 e1–2.CrossRef

24.

Zhang M, Xi Z, Fang S, Ghani M, Sato C, Moreno D, et al. Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson’s disease. Neurobiol Aging. 2016;38:217 e7–8.CrossRef

25.

Rubino E, Brusa L, Zhang M, Boschi S, Govone F, Vacca A, et al. Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson’s disease. Neurobiol Aging. 2017;53:193 e7–8.CrossRef

26.

Sudhaman S, Muthane UB, Behari M, Govindappa ST, Juyal RC, Thelma BK. Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson’s disease with non-motor phenotypes. J Med Genet. 2016;53(8):559–66.PubMedCrossRef

27.

Ross JP, Dupre N, Dauvilliers Y, Strong S, Dionne-Laporte A, Dion PA, et al. RIC3 variants are not associated with Parkinson’s disease in French-Canadians and French. Neurobiol Aging. 2017;53:194 e9–e11.CrossRef

28.

•• Deng HX, Shi Y, Yang Y, Ahmeti KB, Miller N, Huang C, et al. Identification of TMEM230 mutations in familial Parkinson’s disease. Nat Genet. 2016;48(7):733–9. In this article, Deng et al. provide their results on the analysis of the same Canadian Mennonite kindred where Vilariño-Güell et al. previously found mutations in DNAJC13 to be causative. PubMedCrossRef

29.

Mandemakers W, Quadri M, Stamelou M, Bonifati V. TMEM230: how does it fit in the etiology and pathogenesis of Parkinson’s disease. Mov Disord. 2017; doi:10.1002/mds.27061.

30.

Giri A, Mok KY, Jansen I, Sharma M, Tesson C, Mangone G, et al. Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson’s disease in the Caucasian population. Neurobiol Aging. 2017;50:167 e11–3.CrossRef

31.

Yan W, Tang B, Zhou X, Lei L, Li K, Sun Q, et al. TMEM230 mutation analysis in Parkinson’s disease in a Chinese population. Neurobiol Aging. 2017;49:219 e1–3.CrossRef

32.

Quadri M, Breedveld GJ, Chang HC, Yeh TH, Guedes LC, Toni V, et al. Mutations in TMEM230 are not a common cause of Parkinson’s disease. Mov Disord. 2017;32(2):302–4.PubMedCrossRef

33.

Shi CH, Li F, Shi MM, Yang ZH, Mao CY, Zhang SY, et al. Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson’s disease. Sci Rep. 2017;7(1):1190.PubMedPubMedCentralCrossRef

34.

Yang X, An R, Xi J, Zheng J, Chen Y, Huang H, et al. Sequencing TMEM230 in Chinese patients with sporadic or familial Parkinson’s disease. Mov Disord. 2017;32(5):800–2.PubMedCrossRef

35.

Wu H, Zheng X, Cen Z, Xie F, Chen Y, Lu X, et al. Genetic analysis of the TMEM230 gene in Chinese patients with familial Parkinson disease. Parkinsonism Relat Disord. 2017;36:105–6.PubMedCrossRef

36.

Baumann H, Wolff S, Munchau A, Hagenah JM, Lohmann K, Klein C. Evaluating the role of TMEM230 variants in Parkinson’s disease. Parkinsonism Relat Disord. 2017;35:100–1.PubMedCrossRef

37.

He YC, Huang P, Li QQ, Sun Q, Li DH, Wang T, et al. TMEM230 stop codon mutation is rare in Parkinson’s disease and essential tremor in eastern China. Mov Disord. 2017;32(2):301–2.PubMedCrossRef

38.

Ibanez L, Dube U, Budde J, Black K, Medvedeva A, Davis AA, et al. TMEM230 in Parkinson’s disease. Neurobiol Aging. 2017; doi:10.1016/j.neurobiolaging.2017.03.014.

39.

Buongarzone G, Monfrini E, Franco G, Trezzi I, Borellini L, Frattini E, et al. Mutations in TMEM230 are rare in autosomal dominant Parkinson’s disease. Parkinsonism Relat Disord. 2017;39:87–8.PubMedCrossRef

40.

McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015;1:15071.PubMedPubMedCentralCrossRef

41.

Krahn LE, Maraganore DM, Michels VV. Childhood-onset schizophrenia associated with parkinsonism in a patient with a microdeletion of chromosome 22. Mayo Clin Proc. 1998;73(10):956–9.PubMedCrossRef

42.

Zaleski C, Bassett AS, Tam K, Shugar AL, Chow EW, McPherson E. The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome. Am J Med Genet A. 2009;149A(3):525–8.PubMedPubMedCentralCrossRef

43.

Booij J, van Amelsvoort T, Boot E. Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: potential role for dopamine transporter imaging. Am J Med Genet A. 2010;152A(11):2937–8.PubMedCrossRef

44.

Butcher NJ, Kiehl TR, Hazrati LN, Chow EW, Rogaeva E, Lang AE, et al. Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications. JAMA Neurol. 2013;70(11):1359–66.PubMedPubMedCentralCrossRef

45.

Rehman AF, Dhamija R, Williams ES, Barrett MJ. 22q11.2 deletion syndrome presenting with early-onset Parkinson’s disease. Mov Disord. 2015;30(9):1289–90.PubMedCrossRef

46.

Boot E, Butcher NJ, van Amelsvoort TA, Lang AE, Marras C, Pondal M, et al. Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome. Am J Med Genet A. 2015;167a(3):639–45.PubMedCrossRef

47.

Foo JN, Lee J, Tan LC, Liu J, Tan EK. Large 3-Mb deletions at 22q11.2 locus in Parkinson’s disease and schizophrenia. Mov Disord. 2016;31(12):1924–5.PubMedCrossRef

48.

Oki M, Hori S, Asayama S, Wate R, Kaneko S, Kusaka H. Early-onset Parkinson’s disease associated with chromosome 22q11.2 deletion syndrome. Intern Med. 2016;55(3):303–5.PubMedCrossRef

49.

Pollard R, Hannan M, Tanabe J, Berman BD. Early-onset Parkinson disease leading to diagnosis of 22q11.2 deletion syndrome. Parkinsonism Relat Disord. 2016;25:110–1.PubMedCrossRef

50.

Mok KY, Sheerin U, Simon-Sanchez J, Salaka A, Chester L, Escott-Price V, et al. Deletions at 22q11.2 in idiopathic Parkinson’s disease: a combined analysis of genome-wide association data. Lancet Neurol. 2016;15(6):585–96.PubMedPubMedCentralCrossRef

51.

Ogaki K, Ross OA. Chromosome 22q11.2 deletion may contain a locus for recessive early-onset Parkinson’s disease. Parkinsonism Relat Disord. 2014;20(9):945–6.PubMedPubMedCentralCrossRef

52.

•• Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, et al. Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset parkinsonism. Hum Mutat. 2013;34(9):1208–15. In these two papers, published back-to-back, Quadri et al. and Krebs et al. provide independent evidence that mutations in SYNJ1 cause a neurological syndrome with Parkinsonism, dystonia, cognitive decline, and seizures. PubMedCrossRef

53.

•• Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, et al. The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive parkinsonism with generalized seizures. Hum Mutat. 2013;34(9):1200–7. In these two papers, published back-to-back, Quadri et al. and Krebs et al. provide independent evidence that mutations in SYNJ1 cause a neurological syndrome with Parkinsonism, dystonia, cognitive decline, and seizures. PubMedPubMedCentralCrossRef

54.

Picillo M, Ranieri A, Orefice G, Bonifati V, Barone P. Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family. J Neurol. 2014;261(4):823–4.PubMedCrossRef

55.

Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, et al. PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family. Neurogenetics. 2014;15(3):183–8.PubMedCrossRef

56.

De Rosa A, Pellegrino T, Pappata S, Lieto M, Bonifati V, Palma V, et al. Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism. Parkinsonism Relat Disord. 2016;23:102–5.PubMedCrossRef

57.

Kirola L, Behari M, Shishir C, Thelma BK. Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile parkinsonism. Parkinsonism Relat Disord. 2016;31:124–8.PubMedCrossRef

58.

Rauschendorf MA, Jost M, Stock F, Zimmer A, Rosler B, Rijntjes M, et al. Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome. Mov Disord. 2017;32(3):478–80.PubMedCrossRef

59.

Dyment DA, Smith AC, Humphreys P, Schwartzentruber J, Beaulieu CL, Bulman DE, et al. Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. Neurobiol Aging. 2015;36(2):1222.e1–5.CrossRef

60.

Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, et al. Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. Brain. 2016;139(Pt 9):2420–30.PubMedCrossRefPubMedCentral

61.

Taghavi S, Chaouni R, Tafakhori A, Azcona LJ, Firouzabadi SG, Omrani MD, et al. A clinical and molecular genetic study of 50 families with autosomal recessive parkinsonism revealed known and novel gene mutations. Mol Neurobiol. 2017; doi:10.1007/s12035-017-0535-1.

62.

•• Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, et al. Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology. Am J Hum Genet. 2014;95(6):729–35. This paper describes the identification of RAB39B mutations as the cause for X-linked Parkinsonism with severe intellectual disability. PubMedPubMedCentralCrossRef

63.

Dickson DW, Braak H, Duda JE, Duyckaerts C, Gasser T, Halliday GM, et al. Neuropathological assessment of Parkinson’s disease: refining the diagnostic criteria. Lancet Neurol. 2009;8(12):1150–7.PubMedCrossRef

64.

Puschmann A, Bhidayasiri R, Weiner WJ. Synucleinopathies from bench to bedside. Parkinsonism Relat Disord. 2012;18(Suppl 1):S24–7.PubMedCrossRef

65.

Laxova R, Brown ES, Hogan K, Hecox K, Opitz JM. An X-linked recessive basal ganglia disorder with mental retardation. Am J Med Genet. 1985;21(4):681–9.PubMedCrossRef

66.

Gregg RG, Metzenberg AB, Hogan K, Sekhon G, Laxova R. Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter. Genomics. 1991;9(4):701–6.PubMedCrossRef

67.

Russo S, Cogliati F, Cavalleri F, Cassitto MG, Giglioli R, Toniolo D, et al. Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family. Am J Med Genet. 2000;94(5):376–82.PubMedCrossRef

68.

Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, et al. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet. 2010;86(2):185–95.PubMedPubMedCentralCrossRef

69.

El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, et al. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. J Med Genet. 2011;48(12):840–50.PubMedCrossRef

70.

Vanmarsenille L, Giannandrea M, Fieremans N, Verbeeck J, Belet S, Raynaud M, et al. Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains. Hum Mutat. 2014;35(3):377–83.PubMedCrossRef

71.

Mata IF, Jang Y, Kim CH, Hanna DS, Dorschner MO, Samii A, et al. The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease. Mol Neurodegener. 2015;10:50.PubMedPubMedCentralCrossRef

72.

Shi CH, Zhang SY, Yang ZH, Yang J, Shang DD, Mao CY, et al. A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification. Mov Disord. 2016;31(12):1905–9.PubMedCrossRef

73.

Lesage S, Bras J, Cormier-Dequaire F, Condroyer C, Nicolas A, Darwent L, et al. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol Genet. 2015;1(1):e9.PubMedPubMedCentralCrossRef

74.

• Edvardson S, Cinnamon Y, Ta-Shma A, Shaag A, Yim YI, Zenvirt S, et al. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS One. 2012;7(5):e36458. Edvarson et al. provide the first description of DNAJC6 mutations in two siblings with very severe childhood-onset Parkinsonism. PubMedPubMedCentralCrossRef

75.

Koroglu C, Baysal L, Cetinkaya M, Karasoy H, Tolun A. DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. Parkinsonism Relat Disord. 2013;19(3):320–4.PubMedCrossRef

76.

•• Olgiati S, Quadri M, Fang M, Rood JP, Saute JA, Chien HF, et al. DNAJC6 mutations associated with early-onset Parkinson’s disease. Ann Neurol. 2016;79(2):244–56. In this report, Olgiati et al. have identified DNAJC6 variants in patients with early-onset PD without prominent additional neurological signs or symptoms. PubMedCrossRef

77.

Elsayed LE, Drouet V, Usenko T, Mohammed IN, Hamed AA, Elseed MA, et al. A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal-recessive juvenile-onset Parkinson’s disease. Ann Neurol. 2016;79(2):335–7.PubMedCrossRef

78.

Olgiati S, Quadri M, Mandemakers W, Bonifati V. Reply. Ann Neurol. 2016;79(2):337–8.PubMedCrossRef

79.

•• Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, et al. Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/parkin-dependent mitophagy. Am J Hum Genet. 2016;98(3):500–13. Lesage et al. used an interesting approach, selecting patients with early-onset PD from consanguineous parents, and also provide functional evidence for the pathogenicity of VPS13C mutations. PubMedPubMedCentralCrossRef

80.

Sudhaman S, Prasad K, Behari M, Muthane UB, Juyal RC, Thelma BK. Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile parkinsonism. J Med Genet. 2016;53(7):450–6.PubMedCrossRef

81.

•• Khodadadi H, Azcona LJ, Aghamollaii V, Omrani MD, Garshasbi M, Taghavi S, et al. PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism. Mov Disord. 2017;32(2):287–91. Khodadadi et al. report PTRHD1 mutations from one Iranian family and correctly relate to Jaberi et al.’s previous report on a family with similar phenotype. PubMedCrossRef

82.

Jaberi E, Rohani M, Shahidi GA, Nafissi S, Arefian E, Soleimani M, et al. Mutation in ADORA1 identified as likely cause of early-onset parkinsonism and cognitive dysfunction. Mov Disord. 2016;31(7):1004–11.PubMedCrossRef

83.

Puschmann A, Pfeiffer RF, Stoessl AJ, Kuriakose R, Lash JL, Searcy JA, et al. A family with parkinsonism, essential tremor, restless legs syndrome, and depression. Neurology. 2011;76(19):1623–30.PubMedPubMedCentralCrossRef

84.

Hill-Burns EM, Ross OA, Wissemann WT, Soto-Ortolaza AI, Zareparsi S, Siuda J, et al. Identification of genetic modifiers of age-at-onset for familial Parkinson’s disease. Hum Mol Genet. 2016;25(17):3849–62.PubMedPubMedCentralCrossRef

85.

•• Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR, et al. Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. Hum Mol Genet. 2016; doi:10.1093/hmg/ddw348. Lubbe et al. used data from exome sequencing and NeuroX analyses from 7900 PD cases to study possible oligogenic mechanisms in PD.

86.

Gan-Or Z, Ruskey JA, Spiegelman D, Arnulf I, Dauvilliers Y, Hogl B, et al. Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder. Brain. 2017;140(6):e32.PubMedCrossRef

87.

Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, et al. Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism. Brain. 2017;140(Pt 1):98–117.PubMedCrossRef

88.

Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, et al. Reply: heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder. Brain. 2017;140(6):e33.PubMedCrossRef

89.

Trinh J, Gustavsson EK, Vilarino-Guell C, Bortnick S, Latourelle J, McKenzie MB, et al. DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study. Lancet Neurol. 2016;15(12):1248–56.PubMedCrossRef

Title: New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism
Author: Andreas Puschmann
Publication date: 01-09-2017
Publisher: Springer US
Published in: Current Neurology and Neuroscience Reports / Issue 9/2017
Print ISSN: 1528-4042
Electronic ISSN: 1534-6293
DOI: https://doi.org/10.1007/s11910-017-0780-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

Abstract

Purpose of Review

Recent Findings

Summary

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose of Review

Recent Findings

Summary

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