Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.

ABSTRACT: Multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) are uncommon multifactorial atypical Parkinsonian syndromes, expressed by various clinical features. MSA and PSP are commonly considered sporadic neurodegenerative disorders; however, our understanding is improving of their genetic framework. The purpose of this study was to critically review the genetics of MSA and PSP and their involvement in the pathogenesis. A systemized literature search of PubMed and MEDLINE was performed up to 1 January 2023. Narrative synthesis of the results was undertaken. In total, 43 studies were analyzed. Although familial MSA cases have been reported, the hereditary nature could not be demonstrated. COQ2 mutations were involved in familial and sporadic MSA, without being reproduced in vari

SUBMITTER: Bougea A 

PROVIDER: S-EPMC10048872 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature