Copy number variations of proteins associated with neurodegenerative diseases and rare neurological disorders

<p indent="0mm">Rare neurological disorder is a group of diseases that are phenotypically complicated and largely incurable, and its pathogenesis remains poorly understood. Multiple clinical studies have indicated that copy number variations in key proteins associated with common neurodegenerative diseases, such as Alzheimer’s disease and Parkinson’s disease, may lead to rare neurological disorders. This review focuses on the copy number variations related to Aβ, tau, and α-Syn and provides evidence of their links to rare neurological diseases. Further, this review highlights the similarities and discrepancies between rare neurological disorders and common neurodegenerative diseases, with the aim of providing new insights into the therapeutic strategies for these diseases.