High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

Author

POTTIER, C^{1 2} ; HANNEQUIN, D^{1 2} ; THOMAS-ANTERION, C⁶ ; MICHON, A^{2 7} ; CROISILE, B⁸ ; ETCHARRY-BOUYX, F⁹ ; BERR, C¹⁰ ; DARTIGUES, J.-F¹¹ ; AMOUYEL, P¹² ; DAUCHEL, H¹³ ; BOUTOLEAU-BRETONNIERE, C¹⁴ ; THAUVIN, C¹⁵ ; COUTANT, S^{1 2} ; FREBOURG, T¹ ; LAMBERT, J.-C¹² ; CAMPION, D^{1 16 2} ; ROVELET-LECRUX, A^{1 2} ; WALLON, D^{1 2} ; ROUSSEAU, S^{1 2} ; LEGALLIC, S^{1 2} ; PAQUET, C³ ; BOMBOIS, S^{2 4} ; PARIENTE, J⁵
[1] Department of Molecular Genetics, Inserm U614, Institute for Biomedical Research and Innovation, University of Rouen, Rouen, France
[2] CNR-MAJ, Rouen University Hospital, Lille University Hospital and Paris Salpêtrière University Hospital, France
[3] CMRR Nord, Inserm U839, Lariboisière University Hospital, Paris, France
[4] EA1046, Lille Nord University Hospital, Lille, France
[5] Department of Neurology, CMRR and Inserm U825, Purpan University Hospital, Toulouse, France
[6] Department of Neurology, CMRR, University Hospital Nord, Saint Etienne, France
[7] CRCICM, IM2A, UMR-S975 AP-HP, University Hospital Pitié-Salpêtrière, Paris, France
[8] Department of Neuropsychology, CMRR, University Hospital, Groupe Hospitalier Est, Bron, France
[9] Department of Neurology, Angers University Hospital, Angers, France
[10] INSERM U888, Hôpital La Colombière, Montpellier, France
[11] INSERM U897, Victor Segalen University, Bordeaux, France
[12] INSERM U744, Pasteur Institute of Lille, Lille, France
[13] LITIS, EA 4108, University of Rouen, Rouen, France
[14] Department of Neurology, CMRR, Nantes University Hospital, Nantes, France
[15] Department of Genetics, Dijon University Hospital, Dijon, France
[16] Le Rouvray Hospital, Sotteville les Rouen, France
PHRC GMAJ Collaborators

Source

Molecular psychiatry. 2012, Vol 17, Num 9, pp 875-879, 5 p ; ref : 10 ref

ISSN

1359-4184

Scientific domain

Biochemistry, molecular biology, biophysics; Cognition; Psychology, psychopathology, psychiatry

Publisher

Nature Publishing Group, Basingstoke

Publication country

United Kingdom

Document type

Article

Language

English

Author keyword

Alzheimer SORL1 exome mutation

Keyword (fr)

Age apparition Démence d'Alzheimer Haute fréquence Mutation Précoce Maladie dégénérative Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux

Keyword (en)

Age of onset Alzheimer disease High frequency Mutation Early Degenerative disease Cerebral disorder Central nervous system disease Nervous system diseases

Keyword (es)

Edad aparición Demencia Alzheimer Alta frecuencia Mutación Precoz Enfermedad degenerativa Encéfalo patología Sistema nervosio central patología Sistema nervioso patología

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B18 Psychopathology. Psychiatry / 002B18C Adult and adolescent clinical studies / 002B18C13 Organic mental disorders. Neuropsychology

Francis

770 Psychology. Psychoanalysis. Psychiatry / 770-D Psychopathology. Psychiatry / 770-D03 Adult and adolescent clinical studies / 770-D03M Organic mental disorders. Neuropsychology

Discipline

Neurology Psychopathology. Psychiatry. Clinical psychology

Origin

Inist-CNRS

Database

FRANCIS ; PASCAL

INIST identifier

26304495

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS