Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer’s disease

Author:

Vöglein Jonathan12,Paumier Katrina3,Jucker Mathias45,Preische Oliver45,McDade Eric3,Hassenstab Jason3,Benzinger Tammie L3,Noble James M6,Berman Sarah B7,Graff-Radford Neill R8,Ghetti Bernardino9,Farlow Martin R9,Chhatwal Jasmeer10,Salloway Stephen11,Xiong Chengjie3,Karch Celeste M3,Cairns Nigel3,Mori Hiroshi12,Schofield Peter R1314,Masters Colin L15,Goate Alison16,Buckles Virginia3,Fox Nick17,Rossor Martin17,Chrem Patricio18,Allegri Ricardo18,Ringman John M19,Höglinger Günter12021,Steiner Harald122,Dieterich Marianne122123,Haass Christian12122,Laske Christoph424,Morris John C3,Bateman Randall J3,Danek Adrian12,Levin Johannes1221,

Affiliation:

1. German Center for Neurodegenerative Diseases (DZNE), Munich, Germany

2. Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany

3. Washington University School of Medicine, 660 South Euclid, Saint Louis, MO, USA

4. German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany

5. Hertie Institute for Clinical Brain Research, University of Tübingen, Germany

6. Department of Neurology, Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, and Gertrude H. Sergievsky Center, Columbia University Irving Medical Center, 710 West 168th Street Box 176, New York, NY, USA

7. University of Pittsburgh, 3471 Fifth Ave #900, Pittsburgh, PA, USA

8. Department of Neurology, Mayo Clinic, Jacksonville, FL, USA

9. Indiana University School of Medicine, Indianapolis, IN, USA

10. Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

11. Butler Hospital, 345 Blackstone Boulevard, Providence, RI, USA

12. Osaka City University Medical School, Asahimachi, Abenoku, Osaka 545–8585, Japan

13. Neuroscience Research Australia, Sydney, Australia

14. School of Medical Sciences, University of New South Wales, Sydney, Australia

15. Florey Institute, University of Melbourne, Level 5, Kenneth Myer Building, 30 Royal Parade, Parkville, Victoria, 3010, Australia

16. Department of Neuroscience, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, B1065, New York, NY, USA

17. Dementia Research Centre, Institute of Neurology, University College London, Queen Square, London, UK

18. FLENI, Montañeses 2325 (C1428AQK), Bs As, Argentina

19. Keck School of Medicine of University of Southern California, Center for the Health Professionals, 1540 Alcazar Street, Suite 209F, Los Angeles, CA, USA

20. Department of Neurology, Technical University of Munich, Munich, Germany

21. Munich Cluster for Systems Neurology (SyNergy), Munich, Germany

22. Biomedical Center (BMC), Metabolic Biochemistry, LMU Munich, Germany

23. German Center for Vertigo and Balance Disorders, Ludwig Maximilians University, Munich, Germany

24. Section for Dementia Research, Hertie Institute for Clinical Brain Research and Department of Psychiatry and Psychotherapy, University of Tübingen, 72076 Tübingen, Germany

Abstract

Aβ deposition in the basal ganglia is common in autosomal dominant Alzheimer’s disease. Vöglein et al. report an increased severity of motor symptoms in autosomal dominant versus sporadic disease in advanced disease stages. Motor symptoms are more severe in post-codon 200 presenilin 1 mutation carriers and correlate with basal ganglia Aβ.

Funder

NIH

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

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