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Start Over Author "Campion, D." Journal revue neurologique
19 results on '"Campion, D."'

4. [Phenotype of familial forms of early-onset Alzheimer's disease linked to chromosome 14. Clinical and neuropsychological characteristics of a large group]

Author

Hannequin D, Campion D, Tardieu S, Auzou P, Martinez M, Dubois B, Clerget-Darpoux F, Agid Y, and Alexis Brice

Subjects
Adult, Chromosomes, Human, Pair 14, Male, Phenotype, Alzheimer Disease, Genetic Linkage, Mutation, Humans, Female, Middle Aged, Pedigree
Abstract

We report the clinical features and neuropsychological data of chromosome-14 linked early-onset Alzheimer's disease in a large family (FAD-RO1). Information available in the literature from eight additional chromosome 14-linked Alzheimer's disease kindreds was compared with the data obtained from six kindreds with amyloid precursor protein gene mutations (APP). In the chromosome 14-linked families the disease has an earlier onset and a shorter duration than in families with APP mutations, with an age at death lower than sixty years of age. Seizures, myoclonus and extra pyramidal signs were frequently present in the cases of FAD-RO1 as in six chromosome 14-linked kindreds, but these features were absent in two other ones. The high frequency of seizures (80%) in FAD-RO1 and two other chromosome 14-linked kindreds is remarkable. Seizures and myoclonus were encountered at a lower prevalence in APP kindreds. This review suggests that some clinical features are more prevalent in chromosome 14-linked than in APP kindreds but a phenotypic heterogeneity does exist within and between families. The profile of deterioration of the neuropsychological performances, as illustrated by the FAD-RO1 members, shows that chromosome 14-linked kindreds do not demonstrate a specific expression in comparison to APP kindreds. Memory was first impaired. Deficits in visuo-spatial and visuopractic abilities were then noted. Finally the verbal performance deteriorated.

Published
1995

5. O1-1 Etat actuel des investigations dans les formes monogéniques de maladie d’Alzheimer du sujet jeune

Author

Wallon, D., primary, Jurici, S., additional, Guyant-Maréchal, L., additional, Martinaud, O., additional, Laquerrière, A., additional, Rovelet-Lecrux, A., additional, Legallic, S., additional, Martin, C., additional, Bou, J., additional, Duyckaerts, C., additional, Le Ber, I., additional, Dubois, B., additional, Pasquier, F., additional, Hannequin, D., additional, and Campion, D., additional

Published
2009
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6. O1-6 Identification par crible génétique dans la drosophile de modulateurs de la neurotoxicité de la protéine Tau et caractérisation neuropathologique de leurs homologues humains

Author

Feuillette, S., primary, Deramecourt, V., additional, Laquerrière, A., additional, Blard, O., additional, Duyckaerts, C., additional, Delisle, M.-B., additional, Maurage, C.-A., additional, Frebourg, T., additional, Campion, D., additional, and Lecourtois, M., additional

Published
2009
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9. Mutations du gène de la progranuline dans les démences frontotemporales : fréquence, spectre mutationnel et phénotypes associés

Author

Le Ber, I., primary, Camuzat, A., additional, Hannequin, D., additional, Pasquier, F., additional, van der Zee, J., additional, Campion, D., additional, Puel, M., additional, Laquerrière, A., additional, Sellal, F., additional, Lacomblez, L., additional, Vercelletto, M., additional, Thomas-Antérion, C., additional, Michel, B.-F., additional, Golfier, V., additional, Didic, M., additional, Salachas, F., additional, Duyckaerts, Ch., additional, Cruts, M., additional, Verpillat, P., additional, Van Broeckhoven, Ch., additional, Dubois, B., additional, and Brice, A., additional

Published
2007
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15. [Insanity in the young: diagnostic course].

Author

Hannequin D, Guyant-Maréchal L, Le Ber I, Wallon D, Campion D, and Sedel F

Subjects
Aging, Alzheimer Disease diagnosis, Alzheimer Disease genetics, Brain pathology, Brain physiopathology, Brain Diseases diagnosis, Brain Diseases psychology, Dementia classification, Dementia genetics, Dementia, Vascular diagnosis, Epilepsy diagnosis, Humans, Middle Aged, Dementia diagnosis
Published
2009

16. [Alzheimer disease: autosomal dominant forms].

Author

Guyant-Maréchal L, Campion D, and Hannequin D

Subjects
Age of Onset, Aged, Alzheimer Disease physiopathology, Amyloid beta-Protein Precursor genetics, Amyloid beta-Protein Precursor metabolism, Chromosome Disorders physiopathology, Humans, Middle Aged, Mutation physiology, Phenotype, Presenilin-1 genetics, Presenilin-2 genetics, Alzheimer Disease genetics, Chromosome Disorders genetics, Genes, Dominant genetics
Abstract

We propose a review devoted to the autosomal dominant forms of Alzheimer disease (AD). These forms are the consequences of either PSEN1 mutations (69%), APP mutations (1%), or APP duplication (7.5%), and exceptionally of PSEN2 mutations (2%). The main characteristic of these AD forms is the early age of onset usually before the age of 60 years. The first part of the review focuses on the identification of unusual clinical and neuropathological phenotypes enlarging the AD spectrum: intracerebral hemorrhages caused by severe amyloid angiopathy, spastic paraparesis, Lewy body dementia and exceptional cerebellar ataxia. The second part concerns the consequences of these mutations on A beta processing, thus demonstrating the key role of the causal "amyloid cascade".

Published
2009
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17. [Dominant forms of Alzheimer's disease: from genotype to phenotype].

Author

Hannequin D and Campion D

Subjects
Adult, Aged, Alzheimer Disease physiopathology, Alzheimer Disease psychology, Amino Acid Sequence, Amyloid beta-Peptides chemistry, Amyloid beta-Protein Precursor chemistry, Animals, Cognition, Genotype, Humans, Mice, Mice, Transgenic, Middle Aged, Molecular Sequence Data, Phenotype, Alzheimer Disease genetics, Amyloid beta-Peptides genetics, Amyloid beta-Protein Precursor genetics
Abstract

This review is devoted to the relationships between phenotype and genotype of the autosomal dominant forms of Alzheimer's disease caused by mutations of presenilins (PSs) and amyloid precursor protein (APP) genes. A first part examines the clinical characteristics mainly the early age of onset and argues about the diversity of age of onset between different mutations and also between patients bearing the same mutation in large families. The second part reports several arguments demonstrating that the main effect of the PSs and APP mutations is the elevation of Ab42 peptide. The pathological and behavioral effects observed in transgenic APP or PSs animals suggest that intra cellular deposits of Ab42 play a role in the pathophysiological process.

Published
2001

18. [Genetics of Alzheimer's disease].

Author

Hannequin D, Campion D, Dumanchin C, Martinez M, Agid Y, Clerget-Darpoux F, Frebourg T, and Brice A

Subjects
Alzheimer Disease metabolism, Alzheimer Disease psychology, Apolipoprotein E4, Apolipoproteins E metabolism, Genetic Markers, Humans, Risk Factors, Alzheimer Disease genetics
Abstract

This review reports epidemiological data and biological mechanisms about the Apolipoprotein E gene allele epsilon 4 that is a major risk factor for Alzheimer's disease (AD). The second part describes the three genes, amyloid precusor protein (APP), presenilin 1 (PS1) and presenilin 2 (PS2) genes, which when mutated cause early-onset autosomal dominant AD. Mutations on each of these genes have as a common consequence elevated levels of A beta (42,3).

Published
1998

19. [Genetics of dominant autosomal forms of Alzheimer disease: 3 genes and one phenotype. Groupe de Recherche Francais sur la Maladie d'Alzheimer].

Author

Brice A, Dubois B, Agid Y, Campion D, Martinez M, Clerger-Darpoux F, Bellis M, Mallet J, Frebourg T, Hannequin D, Puel M, Ledoze F, Pasquier F, Zimmerman MA, Thomas-Anterion C, Moreaud O, and Goas JY

Subjects
Chromosome Aberrations genetics, Chromosome Disorders, Chromosome Mapping, Female, Genes, Dominant, Humans, Male, Phenotype, Alzheimer Disease genetics
Published
1996

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