APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review-Reference-Cited by-同舟云学术

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review

Published:2017-01-12 Issue:1 Volume:56 Page:37-46
ISSN:1387-2877
Container-title:Journal of Alzheimer's Disease
language:
Short-container-title:JAD

Author:

Sellal François¹²,Wallon David³⁴⁵⁶,Martinez-Almoyna Laurent⁷,Marelli Cecilia⁸,Dhar Abhinav⁹,Oesterlé Héléne⁹,Rovelet-Lecrux Anne⁵⁶,Rousseau Stéphane⁴⁶,Kourkoulis Christina E.¹⁰¹¹,Rosand Jon¹⁰¹¹,DiPucchio Zora Y.¹⁰¹¹,Frosch Matthew¹²,Gombert Claudine⁷,Audoin Bertrand¹³,Miné Manuèle¹⁴¹⁵,Riant Florence¹⁴¹⁵,Frebourg Thierry⁵⁶¹⁶,Hannequin Didier³⁴⁵⁶¹⁶,Campion Dominique⁴⁵⁶¹⁷,Greenberg Steven M.¹⁰¹¹,Tournier-Lasserve Elisabeth¹⁴¹⁵,Nicolas Gaël⁴⁵⁶¹⁶

Affiliation:

1. Department of Neurology and Consultation Mémoire de Ressource et de Recherche, Hôpitaux Civils de Colmar, Colmar, France

2. Strasbourg University, INSERM U-1118, Faculty of Medicine, Strasbourg, France

3. Department of Neurology, Rouen University Hospital, Rouen, France

4. CNR-MAJ, Rouen University Hospital, Rouen, France

5. Inserm U1079, Rouen University, IRIB, Normandy University, Rouen, France

6. Normandy Center for Genomic and Personalized Medicine, Rouen, France

7. Neurology Department, Centre Hospitalier, Aix-en-Provence, France

8. Service de Neurologie, CMRR, CHRU Gui de Chauliac, Montpellier, France

9. Radiology Service, Hospital of Moenchsberg, Mulhouse, France

10. J. Philip Kistler Stroke Research Center, Massachusetts General Hospital, Boston, USA

11. Division of Neurocritical Care and Emergency Neurology, Department of Neurology, Massachusetts General Hospital, Boston, USA

12. Neuropathology Service, C.S. Kubik Laboratory for Neuropathology, Massachusetts General Hospital and Harvard Medical School, Boston, USA

13. Aix-Marseille Université, CNRS, CRMBM UMR 7339, Marseille, France/APHM, Hôpital de la Timone, Pôle de Neurosciences Cliniques, Service de Neurologie, Marseille, France

14. AP-HP, Service de génétique moléculaire neurovasculaire, Hôpital Lariboisiére, Paris, France

15. Inserm, U1161, Université Paris 7 Diderot, Paris, France

16. Department of Genetics, Rouen University Hospital, Rouen, France

17. Department of Research, Rouvray Psychiatric Hospital, Sotteville-Lés-Rouen, France

Publisher

IOS Press

Subject

Psychiatry and Mental health,Geriatrics and Gerontology,Clinical Psychology,General Medicine,General Neuroscience

Reference31 articles.

1. Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies;Revesz;Acta Neuropathol,2009

2. Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy;Grabowski;Ann Neurol,2001

3. Familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, dementia, and external carotid dysplasia;Iglesias;Neurology,2000

4. Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation;Greenberg;Neurology,2003

5. Iowa-type hereditary cerebral amyloid angiopathy in a Polish family;Iwanowski;J Neurol Sci,2015

Cited by 28 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Using Neuroimaging to Study Cerebral Amyloid Angiopathy and Its Relationship to Alzheimer’s Disease;Journal of Alzheimer's Disease;2024-01-31

2. PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity;neurogenetics;2023-06-21

3. Clinical considerations in early-onset cerebral amyloid angiopathy;Brain;2023-06-06

4. Phenotype and imaging features associated with APP duplications;Alzheimer's Research & Therapy;2023-05-11

5. Genetica della malattia di Alzheimer;EMC - Neurologia;2022-12