Skip to main content

Parkinson Disease

  • Chapter
  • First Online:
Genetic Counseling for Adult Neurogenetic Disease
  • 1470 Accesses

Abstract

Parkinson disease (PD), the second most-common neurodegenerative disease, is characterized by tremor, bradykinesia, and muscle rigidity. These characteristics, parkinsonism, may also be found in related diseases known as the Parkinson’s plus disorders and may be a component of numerous Mendelian conditions. The variety of inheritance patterns in familial parkinsonism includes autosomal dominant, autosomal recessive, autosomal dominant with reduced penetrance, and increased susceptibility due to risk genes. Additionally since PD is a common disorder, family history can be complicated by the co-occurrence of both the genetic and sporadic forms of the disease in the same pedigree.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 54.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 69.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. De Lau, L. M., & Breteler, M. M. (2006). Epidemiology of Parkinson’s disease. Lancet Neurology, 5(6), 525–535.

    Article  Google Scholar 

  2. Van Den Eeden, S. K., Tanner, C. M., Bernstein, A. L., Fross, R. D., Leimpeter, A., Bloch, D. A., et al. (2003). Incidence of Parkinson’s disease: variation by age, gender, and race/ethnicity. American Journal of Epidemiology, 157(11), 1015–1022.

    Article  Google Scholar 

  3. Hughes, A. J., Daniel, S. E., Ben-Shlomo, Y., & Lees, A. J. (2002). The accuracy of diagnosis of parkinsonian syndromes in a specialist movement disorder service. Brain, 125(Pt. 4), 861–870.

    Article  PubMed  Google Scholar 

  4. Hughes, A. J., Ben-Shlomo, Y., Daniel, S. E., & Lees, A. J. (2001). What features improve the accuracy of clinical diagnosis in Parkinson’s disease: A clinicopathologic study. 1992. Neurology, 57(10 Suppl 3), S34–S38.

    PubMed  Google Scholar 

  5. Braak, H., & Braak, E. (2000). Pathoanatomy of Parkinson’s disease. Journal of Neurology, 247(Suppl 2), II3–II10.

    PubMed  Google Scholar 

  6. Burn, D. J., & Lees, A. J. (2002). Progressive supranuclear palsy: Where are we now? Lancet Neurology, 1(6), 359–369.

    Article  Google Scholar 

  7. Tuite, P. J., Clark, H. B., Bergeron, C., Bower, M., St George-Hyslop, P., Mateva, V., et al. (2005). Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy. Archives of Neurology, 62(9), 1453–1457.

    Article  PubMed  Google Scholar 

  8. Poorkaj, P., Muma, N. A., Zhukareva, V., Cochran, E. J., Shannon, K. M., Hurtig, H., et al. (2002). An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Annals of Neurology, 52(4), 511–516.

    Article  PubMed  Google Scholar 

  9. Armstrong, M. J., Litvan, I., Lang, A. E., et al. (2013). Criteria for the diagnosis of corticobasal degeneration. Neurology, 80(5), 496–503.

    Article  PubMed Central  PubMed  Google Scholar 

  10. Mahapatra, R. K., Edwards, M. J., Schott, J. M., & Bhatia, K. P. (2004). Corticobasal degeneration. Lancet Neurology, 3(12), 736–743.

    Article  Google Scholar 

  11. Lesage, S., Le Ber, I., Condroyer, C., Broussolle, E., Gabelle, A., Thobois, S., et al. (2013). C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain, 136(Pt 2), 385–391.

    Article  PubMed Central  PubMed  Google Scholar 

  12. Lindquist, S., Duno, M., Batbayli, M., Puschmann, A., Braendgaard, H., Mardosiene, S., et al. (2013). Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clinical Genetics, 83(3), 279–283.

    Article  PubMed  Google Scholar 

  13. Bugiani, O., Murrell, J. R., Giaccone, G., Hasegawa, M., Ghigo, G., Tabaton, M., et al. (1999). Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. Journal of Neuropathology and Experimental Neurology, 58(6), 667–677.

    Article  PubMed  Google Scholar 

  14. Stefanova, N., Bücke, P., Duerr, S., & Wenning, G. K. (2009). Multiple system atrophy: An update. Lancet Neurology, 8(12), 1172–1178.

    Article  Google Scholar 

  15. McKeith, I., Mintzer, J., Aarsland, D., Burn, D., Chiu, H., Cohen-Mansfield, J., et al. (2004). Dementia with Lewy bodies. Lancet Neurology, 3(1), 19–28.

    Article  Google Scholar 

  16. Tsuang, D., Leverenz, J. B., Lopez, O. L., Hamilton, R. L., Bennett, D. A., Schneider, J. A., et al. (2012). GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology. Neurology, 79(19), 1944–1950.

    Article  PubMed Central  PubMed  Google Scholar 

  17. Lees, A. J., Hardy, J., & Revesz, T. (2009). Parkinson’s disease. Lancet, 373(9680), 2055–2066.

    Article  PubMed  Google Scholar 

  18. Benamer, T. S., Patterson, J., Grosset, D. G., Booij, J., de Bruin, K., van Royen, E., et al. (2000). Accurate differentiation of parkinsonism and essential tremor using visual assessment of [123I]-FP-CIT SPECT imaging: the [123I]-FP-CIT study group. Movement Disorders, 15(3), 503–510.

    Article  PubMed  Google Scholar 

  19. Jankovic, J., & Poewe, W. (2012). Therapies in Parkinson’s disease. Current Opinion in Neurology, 25(4), 433–447.

    Article  PubMed  Google Scholar 

  20. Ramig, L. O., Sapir, S., Countryman, S., Pawlas, A. A., O'Brien, C., Hoehn, M., et al. (2001). Intensive voice treatment (LSVT®) for individuals with Parkinson’s disease: A two year follow-up. Journal of Neurology, Neurosurgery & Psychiatry, 71(4), 493–498.

    Article  Google Scholar 

  21. Farley, B. G., & Koshley, G. F. (2005). Training BIG to move faster: The application of the speed-amplitude relation as a rehabilitation strategy for people with Parkinson’s disease. Experimental Brain Research, 167(3), 462–467.

    Article  PubMed  Google Scholar 

  22. Fox, C., Ebersbach, G., Ramig, L., & Sapir, S. (2012). LSVT LOUD and LSVT BIG: Behavioral treatment programs for speech and body movement in parkinson disease. Parkinson’s Disease, 2012, 391946.

    PubMed Central  PubMed  Google Scholar 

  23. Miocinovic, S., Somayajula, S., Chitnis, S., & Vitek, J. L. (2013). History, applications, and mechanisms of deep brain stimulation. JAMA Neurology, 70(2), 163–171.

    Article  PubMed  Google Scholar 

  24. Marder, K., Tang, M.-X., Mejia, H., Alfaro, B., Côté, L., Louis, E., et al. (1996). Risk of Parkinson’s disease among first-degree relatives: A community-based study. Neurology, 47(1), 155–160.

    Article  PubMed  Google Scholar 

  25. Payami, H., Larsen, K., Bernard, S., & Nutt, J. (1994). Increased risk of Parkinson’s disease in parents and siblings of patients. Annals of Neurology, 36(4), 659–661.

    Article  PubMed  Google Scholar 

  26. Rocca, W. A., McDonnell, S. K., Strain, K. J., Bower, J. H., Ahlskog, J. E., Elbaz, A., et al. (2004). Familial aggregation of Parkinson’s disease: The Mayo Clinic Family Study. Annals of Neurology, 56(4), 495–502.

    Article  PubMed  Google Scholar 

  27. Tanner, C. M., Ottman, R., Goldman, S. M., Ellenberg, J., Chan, P., Mayeux, R., et al. (1999). Parkinson disease in twins. An etiologic study. The Journal of the American Medical Association, 281(4), 341–346.

    Article  Google Scholar 

  28. Maraganore, D. M., de Andrade, M., Lesnick, T. G., Strain, K. J., Farrer, M. J., Rocca, W. A., et al. (2005). High-resolution whole-genome association study of Parkinson disease. The American Journal of Human Genetics, 77, 685–693.

    Article  Google Scholar 

  29. Polymeropoulos, M. H., Lavedan, C., Leroy, E., Ide, S. E., Dehejia, A., Dutra, A., et al. (1997). Mutation in the alpha-synuclein gene identified in families with Parkinson’s disease. Science, 276(5321), 2045–2047.

    Article  PubMed  Google Scholar 

  30. Singleton, A. B., Farrer, M., Johnson, J., Singleton, A., Hague, S., Kachergus, J., et al. (2003). alpha-Synuclein locus triplication causes Parkinson’s disease. Science, 302(5646), 841.

    Article  PubMed  Google Scholar 

  31. Giasson, B. I., Duda, J. E., Murray, I. V. J., Chen, Q., Souza, J. M., Hurtig, H. I., et al. (2000). Oxidative damage linked to neurodegeneration by selective alpha-synuclein nitration in synucleinopathy lesions. Science, 290(5493), 985–989.

    Article  PubMed  Google Scholar 

  32. Leroy, E., Boyer, R., Auburger, G., Ulm, G., Mezey, E., Harta, G., et al. (1998). The ubiquitin pathway in Parkinson’s disease. Nature, 395(6701), 451–452.

    Article  PubMed  Google Scholar 

  33. Healy, D. G., Abou-Sleiman, P. M., & Wood, N. W. (2004). Genetic causes of Parkinson’s disease: UCHL-1. Cell and Tissue Research, 318(1), 189–194.

    Article  PubMed  Google Scholar 

  34. Rademakers, R., Cruts, M., & van Broeckhoven, C. (2004). The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Human Mutation, 24(4), 277–295.

    Article  PubMed  Google Scholar 

  35. Paisan-Ruiz, C., Jain, S., Evans, E. W., Gilks, W. P., Simón, J., van der Brug, M., et al. (2004). Cloning of the gene containing mutations that cause PARK8-linked Parkinson’s disease. Neuron, 44(4), 595–600.

    Article  PubMed  Google Scholar 

  36. Zimprich, A., Biskup, S., Leitner, P., Lichtner, P., Farrer, M., Lincoln, S., et al. (2004). Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron, 44(4), 601–607.

    Article  PubMed  Google Scholar 

  37. Ross, O. A., Soto-Ortolaza, A. I., Heckman, M. G., Aasly, J. O., Abahuni, N., Annesi, G., et al. (2011). Association of LRRK2 exonic variants with susceptibility to Parkinson’s disease: A case–control study. Lancet Neurology, 10(10), 898–908.

    Article  PubMed Central  Google Scholar 

  38. Healy, D. G., Falchi, M., O’Sullivan, S. S., Bonifati, V., Durr, A., Bressman, S., et al. (2008). Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson’s disease: A case–control study. Lancet Neurology, 7(7), 583–590.

    Article  PubMed Central  Google Scholar 

  39. Puschmann, A. (2013). Monogenic Parkinson’s disease and parkinsonism: Clinical phenotypes and frequencies of known utations. Parkinsonism & Related Disorders, 19(4), 401–415.

    Article  Google Scholar 

  40. Houlden, H., & Singleton, A. B. (2012). The genetics and neuropathology of Parkinson’s disease. Acta Neuropathologica, 124(3), 325–338.

    Article  PubMed Central  PubMed  Google Scholar 

  41. Sidransky, E., Nalls, M. A., Aasly, J. O., Aharon-Peretz, J., Annesi, G., Barbosa, E. R., et al. (2009). Multicenter analysis of glucocerebrosidase mutations in Parkinson’s disease. The New England Journal of Medicine, 361(17), 1651–1661.

    Article  PubMed Central  PubMed  Google Scholar 

  42. Tayebi, N., Walker, J., Stubblefield, B., Orvisky, E., LaMarca, M. E., Wong, K., et al. (2003). Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Molecular Genetics and Metabolism, 79(2), 104–109.

    Article  PubMed  Google Scholar 

  43. Sidransky, E., & Lopez, G. (2012). The link between the GBA gene and parkinsonism. Lancet Neurology, 11(11), 986–998.

    Article  Google Scholar 

  44. Poulopoulos, M., Levy, O. A., & Alcalay, R. N. (2012). The neuropathology of genetic Parkinson’s disease. Movement Disorders, 27(7), 831–842.

    Article  PubMed Central  PubMed  Google Scholar 

  45. Alcalay, R. N., Siderowf, A., Ottman, R., Caccappolo, E., Mejia-Santana, H., Tang, M. X., et al. (2011). Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study. Neurology, 76(4), 319–326.

    Article  PubMed Central  PubMed  Google Scholar 

  46. De Rosa, A., Volpe, G., Marcantonio, L., Santoro, L., Brice, A., Filla, A., et al. (2006). Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations. Journal of Neurology, 253(3), 275–279.

    Article  PubMed  Google Scholar 

  47. Bonifati, V., Rizzu, P., van Baren, M. J., Schaap, O., Breedveld, G. J., Krieger, E., et al. (2003). Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science, 299(5604), 256–259.

    Article  PubMed  Google Scholar 

  48. Valente, E. M., Abou-Sleiman, P. M., Caputo, V., Muqit, M. M., Harvey, K., Gispert, S., et al. (2004). Hereditary early-onset Parkinson’s disease caused by mutations in PINK1. Science, 304(5674), 1158–1160.

    Article  PubMed  Google Scholar 

  49. Crosiers, D., Theuns, J., Cras, P., & Van Broeckhoven, C. (2011). Parkinson disease: Insights in clinical, genetic and pathological features of monogenic disease subtypes. Journal of Chemical Neuroanatomy, 42(2), 131–141.

    Article  PubMed  Google Scholar 

  50. Klein, C., Lohmann-Hedrich, K., Rogaeva, E., Schlossmacher, M. G., & Lang, A. E. (2007). Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurology, 6(7), 652–662.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Matt Bower .

Editor information

Editors and Affiliations

1 Electronic Supplementary Materials

Below is the link to the electronic supplementary material.

Parkinson’s disease Part 1 (MOV 360670 kb)

Parkinson’s disease Part 2 (MOV 190980 kb)

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer Science+Business Media New York

About this chapter

Cite this chapter

Bower, M., Tuite, P. (2015). Parkinson Disease. In: Goldman, J. (eds) Genetic Counseling for Adult Neurogenetic Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7482-2_3

Download citation

Publish with us

Policies and ethics