Rare Pathogenic Variants in Pooled Whole-Exome Sequencing Data Suggest Hyperammonemia as a Possible Cause of Dementia Not Classified as Alzheimer's Disease or Frontotemporal Dementia.

The genetic bases of Alzheimer's disease (AD) and frontotemporal dementia (FTD) have been comprehensively studied, which is not the case for atypical cases not classified into these diagnoses. In the present study, we aim to contribute to the molecular understanding of the development of non-AD and non-FTD dementia due to hyperammonemia caused by mutations in urea cycle genes. The analysis was performed by pooled whole-exome sequencing (WES) of 90 patients and by searching for rare pathogenic variants in autosomal genes for enzymes or transporters of the urea cycle pathway.

Investigation of neuropsychological characteristics of very mild and mild dementia with Lewy bodies.

Introduction: The study aimed to compare the profile of very mild and mild dementia with Lewy bodies (DLB) patients with disease duration up to 5 years in order to find markers for faster progression in this early stage.

Method: We investigated 45 DLB patients with disease duration up to 5 years and 22 normal controls. DLB patients were divided into two subgroups on the basis of the Mini-Mental State Examination (MMSE): very mild and mild.

Executive functions deficit in Parkinson's disease with amnestic mild cognitive impairment.

Recent studies suggest that onset of dementia in Parkinson's disease (PD) is preceded by a phase known as mild cognitive impairment (MCI). Different clinical subtypes of MCI in PD were found. The objective of this study was to investigate whether patients with PD diagnosed with amnestic MCI (aPD-MCI) have also subtle deficits in other cognitive domains and especially in attention/executive functions and, therefore to clarify whether all subcomponents of executive control are equally affected in aPD-MCI.