Case Report: A novel mutation in WFS1 gene (c.1756G > A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke

In this report, we presented a case of WSF1 gene mutation-related disease with cognitive impairment as the initial symptom and recurrent cerebral infarction in the course of the disease. Brain structural imaging results suggested decreased intracranial volume, dramatically reduced in cerebral cortex and cerebellum regions. Multimodal molecular imaging results suggested Tau protein deposition in the corresponding brain regions without Aβ pathology changes. These pathological changes may indicate a role of WFS1 in neuronal vulnerability to tau pathology associated with neurodegeneration and ischemia-induced damage.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research