A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features.

ABSTRACT:

Background

Parkinson's disease (PD) affects millions of people worldwide, but only 5-10% of patients suffer from a monogenic form of the disease with Mendelian inheritance. SNCA, the gene encoding for the protein alpha-synuclein (aSyn), was the first to be associated with familial forms of PD and, since then, several missense variants and multiplications of the SNCA gene have been established as rare causes of autosomal dominant forms of PD.

Aim and methods

A patient carrying aSyn missense mutation and his family members were studied. We present the clinical features, genetic testing - whole exome sequencing (WES), and neuropathological findings. The functional consequences of this aSyn variant were extensively investigated using biochemical, biophysical, and c

SUBMITTER: Brucke C 

PROVIDER: S-EPMC11469355 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature