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Journal of Neurology
Erschienen in: Journal of Neurology 2/2014

01.02.2014 | Review

Recent advances in Parkinson’s disease genetics

verfasst von: Steven Lubbe, Huw R. Morris

Erschienen in: Journal of Neurology | Ausgabe 2/2014

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Abstract

The last 5 years have seen rapid progress in Parkinson’s disease (PD) genetics, with the publication of a series of large-scale genome wide association studies for PD, and evaluation of the roles of the LRRK2 and GBA genes in the aetiology of PD. We are beginning to develop a coherent picture of the interplay of Mendelian and non-Mendelian factors in PD. Pathways involved in mitochondrial quality control (mitophagy), lysosomal function and immune function are emerging as important in the pathogenesis of PD. These pathways represent a target for therapeutic intervention and a way in which the heterogeneity of disease cause, as well as disease mechanism, can be established. In the future, there is likely to be an individualised basis for the treatment of PD, linked to the identification of specific genetic factors.
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Metadaten
Titel
Recent advances in Parkinson’s disease genetics
verfasst von
Steven Lubbe
Huw R. Morris
Publikationsdatum
01.02.2014
Verlag
Springer Berlin Heidelberg
Erschienen in
Journal of Neurology / Ausgabe 2/2014
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-013-7003-2

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Original Communication

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation

Original Communication

‘Spinal amaurosis’ (1841). On the early contribution of Edward Hocken to the concept of neuromyelitis optica

Original Communication

Gait and upper limb variability in Parkinson’s disease patients with and without freezing of gait

Original Communication

Regional alterations in cortical thickness and white matter integrity in amyotrophic lateral sclerosis

Letter to the Editors

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism

Original Communication

The 5 Objects Test: a novel, minimal-language, memory screening test

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