Evaluation of the Effect of Supernatants from Glial Cells Stimulated with Beta-Amyloid Peptide on the Expression of Adhesion Molecules in Endothelial Cells

Abstract

of PGRN mutation includes behavioral symptoms, with apathy as the dominant feature. Methods: The subject was living in Warsaw, Poland. He underwent short-term admission to the Alzheimer’s Day Clinic seeking specialist help accordingly to his neuropsychiatric dysfunctions. He underwent detailed clinical assessment, including neurological, psychiatric, neuropsychological examination and was diagnosed with FTD. A sequencing analysis of PGRN exons 1-12 was performed. Results: DNA sequence analysis of PGRN revealed a novel, heterozygous mutation in exon 11 (g.2988_2989delCA, P439_R440fsX6). The mutation introduced a premature stop codon at position 444. The onset of symptoms of FTD in the subject included bradykinesia, apathy and somnolence followed by changes in personality, cognitive deficits and extensive psychotic features. The neuropsychological assessment showed impairment of predominantly executive functions, speech problems, poor attention, visuospatial difficulties and relatively intact delayed memory and praxis. Conclusions: In this report, we describe the clinical, neuropsychological and neuropsychiatric features at onset and longitudinally in the subject from the first Polish kindred identified to have a novel mutation in PGRN. This mutation was responsible for FTD subject and appears to be fully penetrant. Substantial rapid deterioration in the disease course was observed.