Parkinson's Disease Genetics and Pathophysiology.
Annu Rev Neurosci
; 44: 87-108, 2021 07 08.
Article
en En
| MEDLINE
| ID: mdl-34236893
ABSTRACT
Parkinson's disease (PD) is a common neurodegenerative disorder characterized by degeneration of the substantia nigra pars compacta and by accumulation of α-synuclein in Lewy bodies. PD is caused by a combination of environmental factors and genetic variants. These variants range from highly penetrant Mendelian alleles to alleles that only modestly increase disease risk. Here, we review what is known about the genetics of PD. We also describe how PD genetics have solidified the role of endosomal, lysosomal, and mitochondrial dysfunction in PD pathophysiology. Finally, we highlight how all three pathways are affected by α-synuclein and how this knowledge may be harnessed for the development of disease-modifying therapeutics.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Parkinson
Límite:
Humans
Idioma:
En
Revista:
Annu Rev Neurosci
Año:
2021
Tipo del documento:
Article
País de afiliación:
Estados Unidos