An updated review of Parkinson's disease genetics and clinicopathological correlations

• Type: Another Publication in an International Scientific Journal
• Date: 2017

Authors

Ferreira, M (Author) Other; João Massano (Author) FMUP

Journal

Title: Acta Neurologica Scandinavica

Vol. 135

Pages: 273-284

ISSN: 0001-6314

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 103 Citations

Scopus - 115 Citations

Other information

Authenticus ID: P-00M-8DX

DOI: 10.1111/ane.12616

Abstract (EN): Knowledge regarding the pathophysiological basis of Parkinson's disease (PD) has been greatly expanded over the past two decades, with extraordinary contributions from the field of genetics. However, genetic classifications became complex, difficult to follow, and at times misleading, by placing well-established monogenic forms of the disease along with others associated with risk loci, often ill characterized. The present paper summarizes the genetic, clinical, and neuropathological findings of the currently described monogenic forms of PD and also approaches the progress made in determining genetic risk factors for PD. Furthermore, the text incorporates the data into a recently proposed classification system that will hopefully bring a "user-friendly" approach to this issue. This paper also highlights a number of inconsistencies regarding classification of PD as a single, unique clinicopathological entity-in fact, in order to achieve the development of truly innovative therapies, PD should probably be regarded clinically as a "Parkinson's disease cluster", instead of a single disease. In the future, we hope that an in-depth and groundbreaking understanding of PD will allow the development of truly disease-modifying therapies that will target the molecular processes responsible for the cascade of pathological events underlying each form of PD.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 12