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  • 1
    Digitale Medien
    Digitale Medien
    Autosomal dominant diffuse Lewy body disease (1998)
    Springer
    Acta neuropathologica 96 (1998), S. 207-210 
    Details
    ISSN: 1432-0533
    Schlagwort(e): Key word Diffuse Lewy body disease ; Apolipoprotein E gene ; Autosomal dominant ; Parkinson’s disease ; Dementia
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We describe a Japanese family with parkinsonism and later-onset dementia. The proband developed parkinsonism at the age of 61 years, followed by dementia starting when she was 67. Her uncle, who was also her husband, died at the age of 78 years after 7- and 5-year histories of parkinsonism and dementia, respectively. Pathological examination of these two patients showed marked neuronal loss with Lewy bodies (LBs) in the brain stem pigmented nuclei and numerous cortical LBs and ubiquitin-positive hippocampal CA2/3 neurites were observed. The proband also had many amyloid plaques. Their two sons developed similar parkinsonism at the ages of 39 and 28 years and also suffered later-onset dementia. The apolipoprotein E genotype of the proband, her uncle and one of their sons was ɛ3/4 and that of the other son was ɛ4/4. These findings strongly suggest that this family has autosomal dominant diffuse LB disease.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004010050883
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  • 2
    Digitale Medien
    Digitale Medien
    Apolipoprotein E ε4 allele and progression of cortical Lewy body pathology in Parkinson’s disease (1998)
    Springer
    Acta neuropathologica 95 (1998), S. 450-454 
    Details
    ISSN: 1432-0533
    Schlagwort(e): Key words Apolipoprotein E gene ; Cortical Lewy body ; Amyloid plaque ; Parkinson’s disease ; Dementia
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract To elucidate whether the apolipoprotein E ɛ4 allele (APOE4) affects cortical neuropathology in Parkinson’s disease (PD), we determined APOE genotypes and quantified the densities of cortical Lewy bodies (LBs), amyloid plaques and neurofibrillary tangles in 22 autopsy-proven PD cases (12 with dementia; 10 without dementia) that were not accompanied by Alzheimer’s disease. The APOE4 frequency in the demented patient group was 0.21, which was significantly higher than that in Japanese controls (P 〈 0.04). LB densities in demented PD patients were significantly higher than those in non-demented PD patients, despite the shorter disease duration in the former. Moreover, plaque density in the temporal cortex and LB density in the cingulate cortex were significantly higher in the group with APOE4 than in that without the allele. There was no difference in tangle density between these two groups. These results suggest that APOE4 may influence the increase in the number of cortical LBs and amyloid plaques in PD. It is possible that when PD occurs in individuals with APOE4, concomitantly evolving cortical LB pathology in a proportion of cases results in limbic (transitional) or neocortical-type LB disease.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004010050824
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  • 3
    Digitale Medien
    Digitale Medien
    Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium (1998)
    Springer
    Journal of human genetics 43 (1998), S. 22-31 
    Details
    ISSN: 1435-232X
    Schlagwort(e): Key words Autosomal recessive juvenile parkinsonism (AR-JP) ; Parkinson's disease (PD) ; Chromosome 6q25.2-27 ; Linkage disequilibrium
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract Autosomal recessive juvenile parkinsonism (AR-JP) (MIM 600116) is a hereditary neurodegenerative disorder characterized by levodopa-responsive parkinsonism with a mean age at onset of 23.2 years. We recently mapped the AR-JP gene locus to a 17-cM interval on chromosome 6q25.2-27. To further narrow the candidate region of the AR-JP gene, we performed detailed linkage analysis using densely placed genetic markers in this region (D6S437, D6S1581, D6S1579, D6S305, D6S411, SOD2, D6S253, D6S1599, D6S1719 and D6S264). Pairwise linkage analysis revealed the highest cumulative maximal lod score of 9.13 at D6S1579 (θ = 0.05), and multipoint linkage analysis revealed the highest cumulative lod score of 12.4 at the locus 3 cM telomeric to D6S1599. Observation of obligate recombination events narrowed the candidate region to a 13-cM region between D6S1579 and D6S264. Furthermore, we identified two marker loci, D6S1579 and D6S1599, which exhibit strong linkage disequilibrium with the AR-JP locus: χ2 (2 ×n table) = 84.22; P 〈 0.0001, χ2 [likelihood-ratio test (LRT)] = 20.66; P 〈 0.0001, λ = 0.40 and χ2 (2 ×n table) = 63.37; P 〈 0.0001, χ2 (LRT) = 10.32; P 〈0.0001, λ = 0.30, respectively. These results suggest that the candidate region for the AR-JP gene is most likely located near the 4-cM region encompassing D6S1579 and D6S1599.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s100380050032
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