Original Article

HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin

  1. Odity Mukherjee PhD1,2,
  2. Pau Pastor MD, PhD1,2,3,
  3. Nigel J. Cairns PhD1,4,5,
  4. Sumi Chakraverty MS1,2,
  5. John S. K. Kauwe MS1,2,
  6. Shantia Shears BS1,2,
  7. Maria I. Behrens MD, PhD1,6,
  8. John Budde BS1,2,
  9. Anthony L. Hinrichs PhD1,2,
  10. Joanne Norton MSN, RN, CS1,2,
  11. Denise Levitch BS, RN1,2,
  12. Lisa Taylor-Reinwald BA1,5,
  13. Michael Gitcho PhD1,5,
  14. P.-H. Tu MD, PhD1,4,
  15. Lea Tenenholz Grinberg MD1,4,7,
  16. Rajka M. Liscic MD, PhD1,4,8,
  17. Javier Armendariz MS3,
  18. John C. Morris MD1,4,5,
  19. Alison M. Goate PhD1,2,5,9,*

Article first published online: 18 SEP 2006

DOI: 10.1002/ana.20963

Issue

Annals of Neurology

Annals of Neurology

Volume 60, Issue 3, pages 314–322, September 2006

Additional Information

How to Cite

Mukherjee, O., Pastor, P., Cairns, N. J., Chakraverty, S., Kauwe, J. S. K., Shears, S., Behrens, M. I., Budde, J., Hinrichs, A. L., Norton, J., Levitch, D., Taylor-Reinwald, L., Gitcho, M., Tu, P.-H., Tenenholz Grinberg, L., Liscic, R. M., Armendariz, J., Morris, J. C. and Goate, A. M. (2006), HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. Ann Neurol., 60: 314–322. doi: 10.1002/ana.20963

Author Information

  1. 1

    Washington University Alzheimer's Disease Research Center, Washington University School of Medicine, St. Louis, MO

  2. 2

    Department of Psychiatry, Washington University School of Medicine, St. Louis, MO

  3. 3

    School of Medicine University of Navarre, Pamplona and Division of Neurosciences, Center for Applied Medical Research (CIMA), Clínica Universitaria

  4. 4

    Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO

  5. 5

    Department of Neurology, Washington University School of Medicine, St. Louis, MO

  6. 6

    Departamento de Neurología, Facultad de Medicina, Universidad de Chile Clínica Alemana, Santiago, Chile

  7. 7

    Department of Pathology, University of Sao Paulo Medical School, Sao Paulo, Brazil

  8. 8

    Institute for Medical Research and Occupational Health, Zagreb, Croatia

  9. 9

    Department of Genetics, Washington University School of Medicine, St. Louis, MO

*Department of Psychiatry, Washington University School of Medicine, Campus Box 8134, 660 South Euclid Avenue, St. Louis, MO 63110

Publication History

  1. Issue published online: 18 SEP 2006
  2. Article first published online: 18 SEP 2006
  3. Manuscript Revised: 1 AUG 2006
  4. Manuscript Accepted: 1 AUG 2006
  5. Manuscript Received: 13 JUL 2006

Funded by

  • Progressive Supranuclear Palsy Association (PSP Europe)
  • NIH (National Institute on Aging). Grant Numbers: P50 AG05681, PO1 AG03991
  • McDonnell Center for Molecular and Cellular Neurobiology
  • Barnes Jewish Foundation
  • Pilot and Feasibility program of the Washington University Center for Genome Science, supported by the Danforth Foundation
  • Fogarty International Postdoctoral fellowship. Grant Number: TW 0511-05
  • J. William Fulbright Foreign Scholarship Board. Grant Number: 68428174
  • FORD Foundation Predoctoral Fellowship

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