The impact of snca variations and its product alpha-synuclein on non-motor features of parkinson’s disease

Luca Magistrelli, Elena Contaldi, Cristoforo Comi

Research output: Contribution to journalReview articlepeer-review

Abstract

Parkinson’s disease (PD) is a common and progressive neurodegenerative disease, caused by the loss of dopaminergic neurons in the substantia nigra pars compacta in the midbrain, which is clinically characterized by a constellation of motor and non-motor manifestations. The latter include hyposmia, constipation, depression, pain and, in later stages, cognitive decline and dysautonomia. The main pathological features of PD are neuronal loss and consequent accumulation of Lewy bodies (LB) in the surviving neurons. Alpha-synuclein (α-syn) is the main component of LB, and α-syn aggregation and accumulation perpetuate neuronal degeneration. Mutations in the α-syn gene (SNCA) were the first genetic cause of PD to be identified. Generally, patients carrying SNCA mutations present early-onset parkinsonism with severe and early non-motor symptoms, including cognitive decline. Several SNCA polymorphisms were also identified, and some of them showed association with non-motor manifestations. The functional role of these polymorphisms is only partially understood. In this review we explore the contribution of SNCA and its product, α-syn, in predisposing to the non-motor manifestations of PD.

Original languageEnglish
Article number804
JournalLife
Volume11
Issue number8
DOIs
Publication statusPublished - 2021

Keywords

  • Alpha-synuclein
  • Non-motor symptoms
  • Parkinson’s disease

Fingerprint

Dive into the research topics of 'The impact of snca variations and its product alpha-synuclein on non-motor features of parkinson’s disease'. Together they form a unique fingerprint.

Cite this