1/2. Diffuse lewy body disease - a clinical syndrome or a disease entity?Most clinicians and researchers still accept diffuse lewy body disease (DLBD) as a clinicopathological entity. dementia with fluctuating cognitive deficits, a parkinsonian syndrome, and visual hallucinations are the core symptoms of this proposed disease entity. From a neuropathological point of view, many examples of patients with progressive dementia showing evidence of extensive Lewy body formation in the cerebral cortex together with the occurrence of lewy bodies in substantia nigra and locus coeruleus have been identified. Confusingly, a large majority of cases showing typical features of DLBD also present with an Alzheimer pathology in the hippocampus and cerebral cortex. It is far from clear that DLBD represents a specific disease entity rather an intermediate variant between alzheimer disease and idiopathic parkinsonian syndromes. Nevertheless, from a clinical point of view it may be of importance to characterize patients with a symptomatology of DLBD because important management issues such as avoidance of severe neuroleptic sensitivity reactions, dopaminergic antiparkinsonian treatment and a beneficial response to cholinesterase inhibitors can be applied.- - - - - - - - - - ranking = 1keywords = variant (Clic here for more details about this article) |
2/2. A mutant PSEN1 causes dementia with lewy bodies and variant Alzheimer's disease.We report early-onset parkinsonism and dementia of 18 years' duration in a 52-year-old man whose grandfather and father had suffered from a similar neurological disease. In this patient, we found neuronal loss in various brain regions including the substantia nigra and cerebral cortex, lewy bodies, cotton wool plaques, corticospinal tract degeneration, cerebral amyloid angiopathy, and a novel three-base pair deletion in exon 12 of the presenilin-1 (PSEN1) gene. We considered that the mutant PSEN1 might play an important role in the pathogenetic process of both aggregation of alpha-synuclein into lewy bodies and deposition of beta-amyloid into cotton wool plaques.- - - - - - - - - - ranking = 4keywords = variant (Clic here for more details about this article) |