SORL1 gene mutation and octapeptide repeat insertion in PRNP gene in a case presenting with rapidly progressive dementia and cerebral amyloid angiopathy.
Federica CenciniMarcella CataniaGiuseppe Di FedeGiacomina RossiKatia Khouri ChalouhiChiara ManfrediGiorgio GiacconePietro TiraboschiAnna BersanoElisabetta GroppoChiara RosciLucia TancrediLaura CampiglioAmedeo De GradoAlberto PrioriEmma ScelzoPublished in: European journal of neurology (2022)
The specific pathogenic contribution of the two DNA variations is difficult to determine without neuropathology; among the possible explanations, we discuss the possibility of their link with CAA. Vascular and degenerative pathways actually interact in a synergistic way, and genetic studies may lead to more insight into pathophysiological mechanisms.
Keyphrases
- genome wide
- copy number
- mild cognitive impairment
- circulating tumor
- multiple sclerosis
- subarachnoid hemorrhage
- cell free
- single molecule
- cognitive impairment
- dna methylation
- case control
- cancer therapy
- case report
- genome wide identification
- brain injury
- drug delivery
- gene expression
- genome wide analysis
- circulating tumor cells