PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder

Letter to Editor: Neuropsychiatric Consequences of Deep Brain Stimulation in Patients with Chronic Movement Disorders

Neuropsychiatry of Parkinson's Disease

Parkinson's disease (PD) is traditionally regarded as a movement disorder. In recent years, however, non-motor symptoms have been considered significant factors of disability at all stages of the illness. Behavioral and psychological symptoms or neuropsychiatric syndromes associated with PD are frequent and may represent a challenge in the management of these patients. They include anxiety, dep...

Genetic aspects of Alzheimer's disease.

Alzheimer's disease (AD) is a neurodegenerative disorder with a complex etiology and pathogenesis. Mutations in presenilin 1 gene (PSEN1), located on chromosome 14, more rarely in amyloid-beta protein precursor (APP) on chromosome 21, and presenilin 2 genes (PSEN2) on chromosome 1, underlie the pathogenesis of most cases of familial early onset of AD (EOAD). The genetics of late-onset AD (LOAD)...

Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study.

We previously reported a kindred with three cases of dementia, in which the proband exhibited features typical of frontotemporal dementia and parkinsonism (FTDP). An arginine insertion at codon 352 (insR352) in the presenilin-1 (PSEN1) gene was identified in the proband, but analyses in plasma and CSF suggested a mechanism of neurodegeneration not directly related to amyloid pathophysiology. Th...

Global gene expression analysis using microarray to study differential vulnerability to neurodegeneration

Neurodegenerative disorders such as Parkinson’s disease, motor neuron disease and Alzheimer’s disease is characterized by loss of specific cells within certain regions of the brain. One of the most compelling questions is to determine why specific cell populations are vulnerable to neurodegeneration. We addressed this question by studying global gene expression changes using an animal model of ...