A novel mutation (G217D) in the Presenilin 1 gene (PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum - Takao, Masaki; Ghetti, Bernardino; Hayakawa, Isao; Ikeda, Eiji; Fukuuchi, Yasuo; Miravalle, Leticia; Piccardo, Pedro; Murrell, Jill R.; Glazier, Bradley S.; Koto, Atsuo (Acta neuropathologica, 2002)
Keywords: Adult; Alzheimer Disease - genetics; Alzheimer Disease - pathology; Amyloid; Amyloid - analysis; Aspartic acid; Axons; Basal ganglia; Biological and medical sciences; Brain diseases; Caudate nucleus; Central nervous system diseases; Cerebral Arteries - pathology; Cerebral cortex; Cerebral Cortex - pathology; Corpus Striatum - pathology; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Dementia; Dementia disorders; Dendritic spines; Female; Fibrils; Filaments; Gait; Genetic analysis; Glial fibrillary acidic protein; Gliosis; Gliosis - genetics; Gliosis - pathology; Glycine; Humans; Japan; Male; Medical sciences; Membrane Proteins - genetics; Mitochondria; Monoclonal antibodies; Movement disorders; Mutation; Neostriatum; Neurofibrillary tangles; Neurofibrillary Tangles - pathology; Neurological disorders; Neurology; Neuronal-glial interactions; Parkinsonian Disorders - genetics; Parkinsonian Disorders - pathology; Pedigree; Phenotypes; Plaque, Amyloid - pathology; Point Mutation - genetics; Presenilin-1; Senile plaques; Asia; Japan; Human; Immunohistochemistry; Nervous system diseases; Family study; Parkinson disease; Presenilin; Male; Electron microscopy; Cerebral disorder; Case study; Pathology; Concomitant disease; β Amyloid protein; Central nervous system disease; Cytogenetics; Adult; Female; Degenerative disease; Presenile dementia; Mutation; Molecular biology; Extrapyramidal syndrome