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| First Name: | Jean-François | | Last Name: | Foncin | | Title: | Prof. | | Advanced Degrees: | M.D. | | Affiliation: | Ecole Pratique des Hautes Etudes | | Department: | Neurohistologie | | Street Address 1: | 47 rue Général Leclerc | | City: | Brie Comte Robert | | State/Province: | Seine et Marne | | Zip/Postal Code: | 77170 | Country/Territory: | France | | Phone: | +33 1 60 62 51 02 | | Fax: | +33 1 60 62 51 02 | | Email Address: |  |
Disclosure:
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Member reports no financial or other potential conflicts of interest. [Last Modified: 16 October 2012]
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View all comments by Jean-François Foncin
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Alzheimer Disease, Polyglutamine Disorders (Huntington's, etc.), Prion Diseases, Tauopathies
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A-beta PP/A-beta, Microscopy, Neuropathology, Epidemiology, Tau/Cytoskeleton, Genetics
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Training : mathematics, biophysics, medicine, psychiatry, neuropathology.
From neuropathology (mainly ultrastructural) studies in neurodegenerative diseases, I was led to the genetics of these, starting with Alzheimer's : first formal genetics, then and simultaneously collaboration with molecular geneticists. Currently interested again in psychiatry, namely psychiatric genetics. |
FONCIN J.-F., GACHES J., LE BEAU J. : Encéphalopathie spongiforme (apparentée à la maladie de Creutzfeldt-Jakob). Biopsie étudiée au microscope électronique, confirmation autopsique. Rev. Neurol. (Paris) 1964 111, 507-515.
FONCIN J.-F., LE BEAU J. : Ultrastructure des plaques séniles. Rev. Neurol. (Paris) 1965 112, 61-62.
FONCIN J.-F., SALMON D., SUPINO VITERBO V., FELDMAN R.G., MACCHI G., MARIOTTI P., SCOPPETTA C., CARUSO G., BRUNI A.C. : Démence présénile d'Alzheimer transmise dans une famille étendue. Rev. Neurol. (Paris) 1985 141, 194-202.
St.GEORGE-HYSLOP P.H., TANZI R.E., POLINSKY R.J., HAINES J.L., NEE L., WATKINS P.C., MYERS R., FELDMAN R., POLLEN D., DRACHMAN D., GROWDON J., BRUNI A., FONCIN J.-F., SALMON D., FROMMELT P., AMADUCCI L., SORBI S., PIACENTINI S., STEWART G.D., HOBBS W.J., CONNEALLY P.M., GUSELLA J.-F. : The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science February 20., 1987 235 885-890.
StGEORGE-HYSLOP P.H., HAINES J.L., FARRER L.A., POLINSKY R., VAN BROECKHOVEN C., GOATE A., CRAPPER McLACHLAN D.R., ORR H., BRUNI A.C., SORBI S., RAINERO I., FONCIN J.-F., POLLEN D., CANTU J-M., TUPLER R., VOSKRENSENSKAYA N., MAYEUX R., GROWDON J., MYERS R.H., NEE L., BACKHOVENS H., MARTIN J.-J., ROSSOR M., OWEN M.J., MULLAN M., PERCY M.E., KARLINSKY H., RICH S., HESTON L., MONTESI M., MORTILLA M., NACMIAS N., GUSELLA J.-F., HARDY J.A., and other members of the FAD collaborative Study Group : Genetic linkage studies suggest that Alzheimer's disease is not a single homogenous disorder. Nature 1990 347 194-197.
BRUNI A.C, MONTESI M.P., SALMON D., GEI G., PERRE J., EL HACHIMI K.H., FONCIN J.-F. : Alzheimer's disease: a model from the quantitative study of a large kindred. J. Geriatric Psychiatry and Neurology 1992 5 126-131.
StGEORGE-HYSLOP P.H., HAINES J.L., ROGAEV E., MORTILLA M., VAULA G., PERICAK-VANCE M., FONCIN J.-F., MONTESI M., BRUNI A.C., SORBI S., RAINERO I., PINESSI L., POLLEN D., POLINSKY R., NEE L., KENNEDY J., MACCIARDI F., ROGAEVA E., LIANG Y., ALEXANDROVA N., LUKIW W., SCHLUMPF K., TANZI R., TSUDA T., FARRER L.A., CANTU J-M., DUARA R., AMADUCCI L., BERGAMINI L., GUSELLA J.-F., ROSES A., CRAPPER McLACHLAN D.R. : Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nature Genetics 1992 2 330-334.
SHERRINGTON R., ROGAEV E.I., LIANG Y, ROGAEVA E.A., LEVESQUE G., IKEDA M., CHI H., LIN G., LI G., HOLMAN K., TSUDA T., MAR L., FONCIN J.-F., BRUNI A.C., MONTESI M.P., SORBI S., RAINERO I., PINESSI L., NEE L., CHUMAKOV Y., POLLEN D., BROOKES A., SANSEAU P., POLINSKY R.J., WASCO W., DA SILVA H.A.R., HAINES J.L., PERICAK-VANCE M.A., TANZI R.E., ROSES A.D., FRASER P.E., ROMMENS J.M., St GEORGE-HYSLOP P.H. : Cloning of a novel gene bearing missense mutations in early onset Familial Alzheimer Disease. Nature 1995 375 754-760.
EL HACHIMI K.H., CERVENAKOVA L., BROWN P., GOLDFARB L.G., GAJDUSEK D.C., FONCIN J.-F. : Mixed features of Alzheimer's disease and Creutzfeldt-Jakob disease in a family with presenilin 1 mutation in chromosome 14. Amyloid: Intl. J. Exp. Clin. Inv. 1996 3 223-233.
HEYER E., TOUPANCE B., PERRI C., DE VITO O., FONCIN J.-F. BRUNI A.C. : Manic Depressive Illness in a founder population. Europ. J. Hum. Genet. 2003 11 597-602.
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Rogaeva E. et al. : The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer's disease. Nature Genetics online 14 January 2007 doi:10.1038/ng1943 |
To individualize the phenotypes of the various forms of (mainly late onset, e.g. Wernicke's presbyophrenia) Alzheimer's disease and look for the various corresponding genotypes. |
Alzheimer's disease (as well as a number of other "neurodegenerative" diseases and also, probably, "mental" diseases) is not a single disease, but a conglomerate of individual, phenotypically closely related, diseases, each due to a specific genetic cause. The apparent "sporadic" epidemiology of late onset Alzheimer's disease is due to stochastic dispersion of the age of manifestation, with consequent censure of data by death before disease manifestation. |
Study of groups of affected people identical by descent at a putative disease locus, instead of large-scale association studies which are bound to generate more background noise than reproducible results. |
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