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Genes associated with Parkinson syndrome.
J Neurol. 2008 Sep; 255 Suppl 5:8-17.JN

Abstract

Genetic findings have changed our views on Parkinson's disease (PD) and parkinsonism, which will be collectively referred to as Parkinsonian Syndrome (PS) in the present manuscript. Mutations in several genes are found to cause monogenic forms of the disorder. Point mutations, duplications and triplications in the alpha-synuclein gene cause a rare dominant form of PS in families. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified as a much more common cause for dominant PS, especially in certain ethnic groups, while mutations in the parkin gene, in DJ-1, PINK1 and ATP13A2 cause autosomal recessive parkinsonism of early onset. The monogenic variants are important tools in identifying cellular pathways that also shed light on the molecular pathogenesis of sporadic PS and some of these genes may play a role in the etiology of the common sporadic form of PS. Here we add recent findings to a greatly challenging puzzle.

Authors+Show Affiliations

Dept. of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

18787878

Citation

Biskup, Saskia, et al. "Genes Associated With Parkinson Syndrome." Journal of Neurology, vol. 255 Suppl 5, 2008, pp. 8-17.
Biskup S, Gerlach M, Kupsch A, et al. Genes associated with Parkinson syndrome. J Neurol. 2008;255 Suppl 5:8-17.
Biskup, S., Gerlach, M., Kupsch, A., Reichmann, H., Riederer, P., Vieregge, P., Wüllner, U., & Gasser, T. (2008). Genes associated with Parkinson syndrome. Journal of Neurology, 255 Suppl 5, 8-17. https://doi.org/10.1007/s00415-008-5005-2
Biskup S, et al. Genes Associated With Parkinson Syndrome. J Neurol. 2008;255 Suppl 5:8-17. PubMed PMID: 18787878.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genes associated with Parkinson syndrome. AU - Biskup,Saskia, AU - Gerlach,Manfred, AU - Kupsch,Andreas, AU - Reichmann,Heinz, AU - Riederer,Peter, AU - Vieregge,Peter, AU - Wüllner,Ullrich, AU - Gasser,Thomas, PY - 2008/9/20/pubmed PY - 2008/12/17/medline PY - 2008/9/20/entrez SP - 8 EP - 17 JF - Journal of neurology JO - J. Neurol. VL - 255 Suppl 5 N2 - Genetic findings have changed our views on Parkinson's disease (PD) and parkinsonism, which will be collectively referred to as Parkinsonian Syndrome (PS) in the present manuscript. Mutations in several genes are found to cause monogenic forms of the disorder. Point mutations, duplications and triplications in the alpha-synuclein gene cause a rare dominant form of PS in families. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified as a much more common cause for dominant PS, especially in certain ethnic groups, while mutations in the parkin gene, in DJ-1, PINK1 and ATP13A2 cause autosomal recessive parkinsonism of early onset. The monogenic variants are important tools in identifying cellular pathways that also shed light on the molecular pathogenesis of sporadic PS and some of these genes may play a role in the etiology of the common sporadic form of PS. Here we add recent findings to a greatly challenging puzzle. SN - 0340-5354 UR - https://www.unboundmedicine.com/medline/citation/18787878/Genes_associated_with_Parkinson_syndrome_ L2 - https://dx.doi.org/10.1007/s00415-008-5005-2 DB - PRIME DP - Unbound Medicine ER -