Parkinson Hastalığı: Köklerinden Genetiğine

Parkinson J. An essay on the shaking palsy. The Journal of neuropsychiatry and clinical neurosciences. 2002;14(2):223–36

Lees AJ. Unresolved issues relating to the shaking palsy on the celebration of James Parkinson's 250th birthday. Movement disorders: official journal of the Movement Disorder Society. 2007;22(S17):S327–S34

Deng H, Gao K, Jankovic J. The VPS35 gene and Parkinson's disease. Movement Disorders. 2013;28(5):569–75

Jankovic J. Parkinson’s disease: clinical features and diagnosis. Journal of neurology, neurosurgery & psychiatry. 2008;79(4):368–76

Poewe W, Seppi K, Tanner CM, et al. Parkinson disease. Nature reviews Disease primers. 2017;3(1):1–21

Tanner CM, Goldman SM. Epidemiology of Parkinson's disease. Neurologic clinics. 2005;14(2):317

De Virgilio A, Greco A, Fabbrini G, et al. Parkinson's disease: autoimmunity and neuroinflammation. Autoimmunity reviews. 2016;15(10):1005–11

Kasten M, Chade A, Tanner CM. Epidemiology of Parkinson's disease. Handbook of clinical neurology. 2007;83:129–51

Lesage S, Brice A. Role of Mendelian genes in “sporadic” Parkinson's disease. Parkinsonism & related disorders. 2012;18:S66–S70

Spinazzi M, Casarin A, Pertegato V, et al. Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells. Nature protocols. 2012;7(6):1235–46

Thyagarajan D, Bressman S, Bruno C, et al. A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. Annals of neurology. 2000;48(5):730–6

Moon HE, Paek SH. Mitochondrial dysfunction in Parkinson's disease. Experimental neurobiology. 2015;24(2):103

Kolata G. Monkey Model of Parkinson's Disease: A contaminant of illicit drugs has caused Parkinson's disease in humans and monkeys. Science. 1983;220(4598):705–

Dickson DW. Parkinson’s disease and parkinsonism: neuropathology. Cold Spring Harbor perspectives in medicine. 2012;2(8):a009258

Dölle C, Flønes I, Nido GS, et al. Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease. Nature communications. 2016;7(1):13548

Cadet JL, Brannock C. Invited review free radicals and the pathobiology of brain dopamine systems. Neurochemistry international. 1998;32(2):117–31

Wang B, Abraham N, Gao G, et al. Dysregulation of autophagy and mitochondrial function in Parkinson’s disease. Translational Neurodegeneration. 2016;5:1–9

Semchuk KM, Love EJ, Lee RG. Parkinson's disease: a test of the multifactorial etiologic hypothesis. Neurology. 1993;43(6):1173–

Adam-Vizi V, Chinopoulos C. Bioenergetics and the formation of mitochondrial reactive oxygen species. Trends in pharmacological sciences. 2006;27(12):639–45

Halliwell B, Gutteridge JM. Free radicals in biology and medicine: Oxford university press, USA; 2015.

Burchell VS, Nelson DE, Sanchez-Martinez A, et al. The Parkinson's disease–linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nature neuroscience. 2013;16(9):1257–65

Akbayır E, Şen M, Ay U, et al. Parkinson hastalığının etyopatogenezi. Deneysel Tıp Araştırma Enstitüsü Dergisi. 2017;7(13):1–23

Baldereschi M, Di Carlo A, Rocca WA, et al. Parkinson’s disease and parkinsonism in a longitudinal study: two-fold higher incidence in men. Neurology. 2000;55(9):1358–63

Haaxma CA, Bloem BR, Borm GF, et al. Gender differences in Parkinson’s disease. Journal of Neurology, Neurosurgery & Psychiatry. 2007;78(8):819–24

Dluzen D. Estrogen decreases corpus striatal neurotoxicity in response to 6-hydroxydopamine. Brain research. 1997;767(2):340–4

Gao X, Dluzen D. Tamoxifen abolishes estrogen's neuroprotective effect upon methamphetamine neurotoxicity of the nigrostriatal dopaminergic system. Neuroscience. 2001;103(2):385–94

Gajjar T, Anderson L, Dluzen D. Acute effects of estrogen upon methamphetamine induced neurotoxicity of the nigrostriatal dopaminergic system. Journal of neural transmission. 2003;110:1215–24

Datla KP, Murray HE, Pillai AV, et al. Differences in dopaminergic neuroprotective effects of estrogen during estrous cycle. Neuroreport. 2003;14(1):47–50

Langston JW, Ballard P, Tetrud JW, et al. Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis. Science. 1983;219(4587):979–80

Tipton K, McCrodden J, Sullivan J. Metabolic aspects of the behavior of MPTP and some analogues. Advances in neurology. 1993;60:186–93

Spivey A. Rotenone and paraquat linked to Parkinson’s disease: human exposure study supports years of animal studies. National Institute of Environmental Health Sciences; 2011.

Minbay Z, Gören B, Eyigör Ö. 6-OHDA ile Oluşturulan Parkinson Hastalığı Modelinde Astrogliozis ve Glutamat Taşıyıcı Protein GLT1 Ekspresyonu. Uludağ Üniversitesi Tıp Fakültesi Dergisi. 2020;46(3):385–94

Oto G, Önay E. Çevresel Toksinler ve Parkinson Hastalığı. Turkiye Klinikleri Pharmacology-Special Topics. 2022;10(1):59–65

Granado N, Ares-Santos S, Moratalla R. Methamphetamine and Parkinson′ s Disease. Parkinson’s disease. 2013;2013(1):308052

Sherer TB, Betarbet R, Testa CM, et al. Mechanism of toxicity in rotenone models of Parkinson's disease. Journal of Neuroscience. 2003;23(34):10756–64

Barbeau A, Pourcher E. New data on the genetics of Parkinson’s disease. Canadian Journal of Neurological Sciences. 1982;9(1):53–60

Kurth J, Hubble J, Eggers E, et al., editors. Lack of Association of Cyp2d6 And Mao-B Alleles With Parkinsons-Disease ın A Kansas Cohort. Neurology; 1995: Little Brown Co 34 Beacon Street, Boston, MA 02108-1493.

Levin J, Kurz A, Arzberger T, et al. The differential diagnosis and treatment of atypical parkinsonism. Deutsches Ärzteblatt International. 2016;113(5):61

Savoiardo M. Differential diagnosis of Parkinson's disease and atypical parkinsonian disorders by magnetic resonance imaging. Neurological Sciences. 2003;24:s35–s7

Pagano G, Niccolini F, Politis M. Imaging in Parkinson’s disease. Clinical Medicine. 2016;16(4):371–5

Kumar PV, Appavu R. Comparison and Review of DAT Scan, PET Scan, and α-synuclein In Relation to Parkinson’s Disease. Journal of Student Research. 2022;11(2)

Soni R, Mathur K, Shah J. An update on new-age potential biomarkers for Parkinson’s disease. Ageing Research Reviews. 2024Ageing Research Reviews:102208

Lees AJ, Hardy J, Revesz T. Parkinson's disease. The Lancet. 2009;373(9680):2055–66

Hely MA, Morris JG, Reid WG, et al. Sydney multicenter study of Parkinson's disease: Non‐L‐dopa–responsive problems dominate at 15 years. Movement disorders: official journal of the Movement Disorder Society. 2005;20(2):190–9

Kalia LV, Lang AE. Parkinson's disease. The Lancet. 2015;386(9996):896–912

Lill CM. Genetics of Parkinson's disease. Molecular and cellular probes. 2016;30(6):386–96

Dorsey ER, Zafar M, Lettenberger SE, et al. Trichloroethylene: An invisible cause of Parkinson’s disease? Journal of Parkinson’s Disease. 2023;13(2):203–18

Tanner CM, Goldman SM, Ross GW, et al. The disease intersection of susceptibility and exposure: chemical exposures and neurodegenerative disease risk. Alzheimer's & dementia. 2014;10:S213–S25

Jo S, Kim Y-J, Park KW, et al. Association of NO2 and other air pollution exposures with the risk of Parkinson disease. JAMA neurology. 2021;78(7):800–8

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

Gao H-M, Hong J-S. Gene–environment interactions: key to unraveling the mystery of Parkinson's disease. Progress in neurobiology. 2011;94(1):1–19

Verstraeten A, Theuns J, Van Broeckhoven C. Progress in unraveling the genetic etiology of Parkinson disease in a genomic era. Trends in Genetics. 2015;31(3):140–9

Elbaz A, Clavel J, Rathouz PJ, et al. Professional exposure to pesticides and Parkinson disease. Annals of neurology. 2009;66(4):494–504

Brouwer M, Koeman T, van den Brandt PA, et al. Occupational exposures and Parkinson's disease mortality in a prospective Dutch cohort. Occupational and environmental medicine. 2015;72(6):448–55

Ritz B, Lee P-C, Hansen J, et al. Traffic-related air pollution and Parkinson’s disease in Denmark: a case–control study. Environmental health perspectives. 2016;124(3):351–6

Finkelstein MM, Jerrett M. A study of the relationships between Parkinson's disease and markers of traffic-derived and environmental manganese air pollution in two Canadian cities. Environmental research. 2007;104(3):420–32

Jenkins A. Epidemiology of parkinsonism in Victoria. Medical Journal of Australia. 1966;2(11):496–502

den Heijer JM, Cullen VC, Quadri M, et al. A large‐scale full GBA1 gene screening in Parkinson's disease in The Netherlands. Movement Disorders. 2020;35(9):1667–74

Lesage S, Brice A. Parkinson's disease: from monogenic forms to genetic susceptibility factors. Human molecular genetics. 2009;18(R1):R48–R59

Nalls MA, Pankratz N, Lill CM, et al. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nature genetics. 2014;46(9):989–93

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 neuropathologica. 2013;125:753–69

Lesage S, Anheim M, Letournel F, et al. G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome. Annals of neurology. 2013;73(4):459–71

Singleton A, Farrer M, Johnson J, et al. α-Synuclein locus triplication causes Parkinson's disease. science. 2003;302(5646):841–

Chartier-Harlin M-C, Kachergus J, Roumier C, et al. α-synuclein locus duplication as a cause of familial Parkinson's disease. The Lancet. 2004;364(9440):1167–9

Ibanez P, Bonnet A, Debarges B, et al. Causal relation between α-synuclein locus duplication as a cause of familial Parkinson's disease. The Lancet. 2004;364(9440):1169–71

Walsh DM, Selkoe DJ. A critical appraisal of the pathogenic protein spread hypothesis of neurodegeneration. Nature Reviews Neuroscience. 2016;17(4):251–60

Brettschneider J, Tredici KD, Lee VM-Y, et al. Spreading of pathology in neurodegenerative diseases: a focus on human studies. Nature Reviews Neuroscience. 2015;16(2):109–20

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. The Lancet Neurology. 2008;7(7):583–90

Webber PJ, West AB. LRRK2 in Parkinson’s disease: function in cells and neurodegeneration. The FEBS journal. 2009;276(22):6436–44

Zimprich A, Benet-Pagès A, Struhal W, et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. The American Journal of Human Genetics. 2011;89(1):168–75

Vilariño-Güell C, Wider C, Ross OA, et al. VPS35 mutations in Parkinson disease. The American Journal of Human Genetics. 2011;89(1):162–7

Trinh J, Farrer M. Advances in the genetics of Parkinson disease. Nature Reviews Neurology. 2013;9(8):445–54

Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. nature. 1998;392(6676):605–8

Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science. 2004;304(5674):1158–60

Bonifati V, Rizzu P, Van Baren MJ, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science. 2003;299(5604):256–9

Kilarski LL, Pearson JP, Newsway V, et al. Systematic review and UK‐based study of PARK2 (parkin), PINK1, PARK7 (DJ‐1) and LRRK2 in early‐onset Parkinson's disease. Movement Disorders. 2012;27(12):1522–9

Lill CM, Mashychev A, Hartmann C, et al. Launching the movement disorders society genetic mutation database (MDSGene). Movement disorders: official journal of the Movement Disorder Society. 2016;31(5):607–9

Edvardson S, Cinnamon Y, Ta-Shma A, 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

Olgiati S, Quadri M, Fang M, et al. DNAJC6 mutations associated with early-onset Parkinson’s.

Elsayed L, Drouet V, Usenko T, 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

Eisenberg E, Greene LE. Multiple roles of auxilin and hsc70 in clathrin‐mediated endocytosis. Traffic. 2007;8(6):640–6

Kalinderi K, Bostantjopoulou S, Fidani L. The genetic background of Parkinson's disease: current progress and future prospects. Acta Neurologica Scandinavica. 2016;134(5):314–26

Klein C, Westenberger A. Genetics of Parkinson’s disease. Cold Spring Harbor perspectives in medicine. 2012;2(1):a008888

Klein C, Schlossmacher MG. The genetics of Parkinson disease: implications for neurological care. Nature clinical practice Neurology. 2006;2(3):136–46

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. European Journal of Neurology. 2009;16(7):777–85

MacLeod DA, Rhinn H, Kuwahara T, et al. RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson’s disease risk. Neuron. 2013;77(3):425–39

Berardelli A, Wenning G, Antonini A, et al. EFNS/MDS‐ES recommendations for the diagnosis of P arkinson's disease. European journal of neurology. 2013;20(1):16–34

Lindahl M, Saarma M, Lindholm P. Unconventional neurotrophic factors CDNF and MANF: structure, physiological functions and therapeutic potential. Neurobiology of disease. 2017;97:90–102

Lee WY, Lee EA, Jeon MY, et al. Vesicular monoamine transporter-2 and aromatic L-amino acid decarboxylase gene therapy prevents development of motor complications in parkinsonian rats after chronic intermittent L-3, 4-dihydroxyphenylalanine administration. Experimental neurology. 2006;197(1):215–24

Axelsen TM, Woldbye DP. Gene therapy for Parkinson’s disease, an update. Journal of Parkinson's disease. 2018;8(2):195–215

Palfi S, Gurruchaga JM, Ralph GS, et al. Long-term safety and tolerability of ProSavin, a lentiviral vector-based gene therapy for Parkinson's disease: a dose escalation, open-label, phase 1/2 trial. The Lancet. 2014;383(9923):1138–46

Collier TJ, Sortwell CE. Therapeutic potential of nerve growth factors in Parkinson’s disease. Drugs & aging. 1999;14:261–87

Airaksinen MS, Saarma M. The GDNF family: signalling, biological functions and therapeutic value. Nature Reviews Neuroscience. 2002;3(5):383–94

Behl T, Kaur I, Kumar A, et al. Gene therapy in the management of Parkinson’s disease: potential of GDNF as a promising therapeutic strategy. Current Gene Therapy. 2020;20(3):207–22

Yang W, Tu Z, Sun Q, et al. CRISPR/Cas9: implications for modeling and therapy of neurodegenerative diseases. Frontiers in molecular neuroscience. 2016;9:30

During M, Samulski R, Elsworth J, et al. In vivo expression of therapeutic human genes for dopamine production in the caudates of MPTP-treated monkeys using an AAV vector. Gene Therapy. 1998;5(6):820–7

Sanders TH, Jaeger D. Optogenetic stimulation of cortico-subthalamic projections is sufficient to ameliorate bradykinesia in 6-ohda lesioned mice. Neurobiology of disease. 2016;95:225–37

Gradinaru V, Mogri M, Thompson KR, et al. Optical deconstruction of parkinsonian neural circuitry. science. 2009;324(5925):354–9

Yoon HH, Park JH, Kim YH, et al. Optogenetic inactivation of the subthalamic nucleus improves forelimb akinesia in a rat model of Parkinson disease. Neurosurgery. 2014;74(5):533–41

Yoon HH, Min J, Hwang E, et al. Optogenetic inhibition of the subthalamic nucleus reduces levodopa-induced dyskinesias in a rat model of Parkinson's disease. Stereotactic and Functional Neurosurgery. 2016;94(1):41–53

Kravitz AV, Freeze BS, Parker PR, et al. Regulation of parkinsonian motor behaviours by optogenetic control of basal ganglia circuitry. Nature. 2010;466(7306):622–6

Freeze BS, Kravitz AV, Hammack N, et al. Control of basal ganglia output by direct and indirect pathway projection neurons. Journal of Neuroscience. 2013;33(47):18531–9

Moon HC, Won SY, Kim EG, et al. Effect of optogenetic modulation on entopeduncular input affects thalamic discharge and behavior in an AAV2-α-synuclein-induced hemiparkinson rat model. Neuroscience letters. 2018;662:129–35

Chuong AS, Miri ML, Busskamp V, et al. Noninvasive optical inhibition with a red-shifted microbial rhodopsin. Nature neuroscience. 2014;17(8):1123–9

Conklin BR, Hsiao EC, Claeysen S, et al. Engineering GPCR signaling pathways with RASSLs. Nature methods. 2008;5(8):673–8

Roth BL. DREADDs for neuroscientists. Neuron. 2016;89(4):683–94

Pienaar IS, Gartside SE, Sharma P, et al. Pharmacogenetic stimulation of cholinergic pedunculopontine neurons reverses motor deficits in a rat model of Parkinson’s disease. Molecular neurodegeneration. 2015;10:1–22

Singh V, Braddick D, Dhar PK. Exploring the potential of genome editing CRISPR-Cas9 technology. Gene. 2017;599:1–18

Ledford H. CRISPR, the disruptor. Nature. 2015;522(7554)

Cyranoski D. Chinese scientists to pioneer first human CRISPR trial. Nature. 2016;535(7613):476–7