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

• Tipo: Outra Publicação em Revista Científica Internacional
• Data: 2017

Autores

Ferreira, M (Autor) Outra; João Massano (Autor) FMUP

Revista

Título: Acta Neurologica Scandinavica

Vol. 135

Páginas: 273-284

ISSN: 0001-6314

Editora: Wiley-Blackwell

Indexação

ISI Web of Knowledge - 103 Citações

Scopus - 115 Citações

Outras Informações

ID Authenticus: 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 12