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Neurobildgebung genetischer Aspekte der Parkinson-Krankheit

Imaging of genetic aspects of Parkinson’s disease

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Zusammenfassung

Die Pathogenese der idiopathischen Parkinson-Krankheit (PK) ist bisher weitgehend unbekannt. Genetische Faktoren scheinen wesentlich an der Krankheitsentstehung beteiligt zu sein. In besonderer Weise gilt dies für monogene Formen, bei denen Veränderungen in einem einzigen Gen zu einem Parkinson-Syndrom führen können. Wenngleich relativ selten, eröffnen die monogen verursachten Formen der PK einzigartige Möglichkeiten, die pathophysiologischen Mechanismen der PK aufzuklären. Dieser Übersichtsartikel beleuchtet, wie Neurobildgebung und Neurogenetik miteinander kombiniert werden können, um pathophysiologische Aspekte der PK zu ergründen. Hierbei wird besonders auf den Einsatz der Neurobildgebung bei nicht erkrankten Mutationsträgern eingegangen, um präklinische Stadien der PK zu erforschen. Dieser Ansatz kann wesentlich zur Klärung der Frage beitragen, wie das motorische System eine latente nigrostriatale dopaminerge Dysfunktion kompensieren und somit die klinische Manifestation der PK hinauszögern kann.

Summary

Although the mechanisms which cause Parkinson’s disease (PD) are still poorly understood, research on monogenic forms of PD have demonstrated a significant genetic contribution to its etiology. Monogenic forms of PD only account for a minority of cases but offer a unique avenue of research into the pathogenesis of PD. In this article the potential of structural and functional neuroimaging in monogenic forms to provide general insights into the pathophysiology of PD, including the more common idiopathic disease is reviewed. The review has a particular focus on neuroimaging of non-manifesting mutation carriers to study functional and structural changes in the brain at the asymptomatic stage of PD. This line of research has started to provide valuable insights into how the brain can cope with a latent nigrostriatal dopaminergic deficit and thereby delay the clinical onset of PD.

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Authors and Affiliations

  1. Sektion für Klinische und Molekulare Neurogenetik an der Klinik für Neurologie, Universität zu Lübeck, Lübeck, Deutschland

    N. Brüggemann & C. Klein

  2. Danish Research Centre for Magnetic Resonance, Universitätsklinikum Hvidovre der Universität zu Kopenhagen, Hvidovre Kettegaard Allé 30, 2650, Hvidovre, Dänemark

    N. Brüggemann, J. Vegt &  H.R. Siebner

  3. Abteilung für Neurologie, Radboud-Universität Nijmegen, Nijmegen, Niederlande

    J. Vegt

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  1. N. Brüggemann
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  2. J. Vegt
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  4. H.R. Siebner
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Correspondence to H.R. Siebner.

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Brüggemann, N., Vegt, J., Klein, C. et al. Neurobildgebung genetischer Aspekte der Parkinson-Krankheit. Nervenarzt 81, 1196–1203 (2010). https://doi.org/10.1007/s00115-010-3024-6

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  • DOI: https://doi.org/10.1007/s00115-010-3024-6

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