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Neurodegeneration in Parkinson’s Disease: Genetics Enlightens Physiopathology

  • Olga CortiEmail author
  • Margot Fournier
  • Alexis Brice
Chapter
Part of the Journal of Neural Transmission. Supplementa book series (NEURALTRANS, volume 73)

Abstract

Parkinson’s disease (PD) is a severe neurodegenerative disorder of complex etiology and enigmatic physiopathology. In the past decade, the identification of genes involved in rare familial Parkinsonian syndromes has brought hope that understanding the functions of their products will provide insight into the molecular mechanisms responsible for neurodegeneration. The knowledge accumulated thus far has delineated two putative, potentially interconnected, disease-causing pathways: α-synuclein accumulation may be central to Parkinsonism due to α-synuclein gene defects, but possibly also to sporadic PD and other genetic forms presenting with Lewy bodies; altered mitochondrial physiology may be pivotal to Parkinsonian syndromes caused by parkin, PINK1, and possibly DJ-1 gene mutations. Adding new pieces to this fragmentary picture to determine to what extent sporadic PD and Parkinsonism due to distinct genetic causes share common pathogenic mechanisms remains a major challenge toward the development of future therapeutic strategies for these disabling disorders.

Keywords

DJ-1 Lewy bodies Parkin Parkinson’s disease PINK1 α-synuclein 

Abbreviations

LBs

Lewy bodies

PD

Parkinson’s disease

SNc

Substantia nigra pars compacta

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Copyright information

© Springer-Verlag/Wien Printed in Germany 2009

Authors and Affiliations

  1. 1.Centre de Recherche de l’Institut du Cerveau et de la Moelle épinièreUniversité Pierre et Marie Curie-Paris 6ParisFrance
  2. 2.InsermParisFrance
  3. 3.CnrsParisFrance
  4. 4.Département de Génétique et CytogénétiqueAP-HP, Hôpital de la Pitié-SalpêtrièreParisFrance

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