The purpose of this study was to determine the diagnostic accuracy of medial temporal lobe atrophy (MTA) on MRI for distinguishing Alzheimer's disease from other dementias in autopsy confirmed cases, and to determine pathological correlates of MTA in Alzheimer's disease, dementia with Lewy bodies (DLB) and vascular cognitive impairment (VCI). We studied 46 individuals who had both antemortem MR...

We have previously linked families with autosomal-dominant, late-onset parkinsonism to chromosome 12p11.2-q13.1 (PARK8). By high-resolution recombination mapping and candidate gene sequencing in 46 families, we have found six disease-segregating mutations (five missense and one putative splice site mutation) in a gene encoding a large, multifunctional protein, LRRK2 (leucine-rich repeat kinase ...

Background Neuropsychiatric symptoms (NPS) in Lewy body diseases, including dementia with bodies (DLB) and Parkinson’s disease (PD) dementia, occur frequently at an early stage progression. Such are significantly associated quality of life, caregiver burden functional limitations. Limited evidence exists, however, outlining the relationship between NPS cognitive decline. Methods Data from 217 p...

Ubiquitin-positive intraneuronal inclusions are a consistent feature of the major human neurodegenerative diseases, suggesting that dysfunction of the ubiquitin proteasome system is central to disease etiology. Research using inhibitors of the 20S proteasome to model Parkinson's disease is controversial. We report for the first time that specifically 26S proteasomal dysfunction is sufficient to...

Researchers in neuroimaging and practitioners who manage patients with dementia may be surprised to learn that imaging of the heart can help distinguish Lewy body disorders from other causes of neurodegeneration. Over the past dozen years, a remarkably consistent neuroimaging literature has emerged indicating that cardiac noradrenergic denervation characterizes Parkinson disease (PD), pure auto...

The objective of this work is to describe the neuropathological findings of a patient clinically presenting with rapidly progressive nonspecific neurological symptoms suggestive of Creutzfeldt-Jakob disease. Methods used were clinical description with laboratory analyses, repeated electroencephalogram, cerebral computed tomography, magnetic resonance imaging studies and details on neuropatholog...