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Vol. 14, No. 1, 2002
Issue release date: June 2002
Section title: Original Research Article
Dement Geriatr Cogn Disord 2002;14:13–21
(DOI:10.1159/000058328)

Familial Frontotemporal Dementia Associated with a Novel Presenilin-1 Mutation

Tang-Wai D. · Lewis P. · Boeve B. · Hutton M. · Golde T. · Baker M. · Hardy J. · Michels V. · Ivnik R. · Jack C. · Petersen R.
Departments of aNeurology, bMedical Genetics, cPsychiatry and Psychology and dDiagnostic Radiology, Mayo Clinic, Rochester, Minn., eDepartment of Science and Neurogenetics Laboratory, Mayo Clinic, Jacksonville, Fla., fMayo Alzheimer’s Disease Research Center, Mayo Clinic and Mayo Foundation, Rochester, Minn., USA

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Article / Publication Details

First-Page Preview
Abstract of Original Research Article

Published online: 6/5/2002

Number of Print Pages: 9
Number of Figures: 4
Number of Tables: 1

ISSN: 1420-8008 (Print)
eISSN: 1421-9824 (Online)

For additional information: http://www.karger.com/DEM

Abstract

We report a kindred with three cases of dementia. The proband presented with forgetfulness and personality changes at age 56, followed shortly thereafter by behavioral dyscontrol, hyperphagia, hypersexuality, delusions, illusions, disinhibition and double incontinence. Neuroimaging studies were consistent with frontotemporal dementia (FTD). In one allele, an arginine insertion at codon 352 in the presenilin 1 (PSEN1) gene was identified; no mutation was identified in the amyloid precursor protein or tau genes. We conclude that the clinical features of the Kluver-Bucy syndrome and FTD can be associated with PSEN1 mutations. Furthermore, presenilin analyses may be helpful to characterize kindreds with familial dementing illnesses regardless of the phenotype, particularly if no tau mutation is present.


Article / Publication Details

First-Page Preview
Abstract of Original Research Article

Published online: 6/5/2002

Number of Print Pages: 9
Number of Figures: 4
Number of Tables: 1

ISSN: 1420-8008 (Print)
eISSN: 1421-9824 (Online)

For additional information: http://www.karger.com/DEM


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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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References

  1. Crook R, Verkkoniemi A, Perez-Tur J, et al: A variant of Alzheimer’s disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat Med 1998;4:452–455.
  2. Raux G, Gantier R, Martin C, et al: A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer’s disease. Hum Mutat 2000;16:95.

    External Resources

  3. Raux G, Gantier R, Thomas-Anterion C, et al: Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. Neurology 2000;55:1577–1579.

    External Resources

  4. Tedde A, Forleo P, Nacmias B, et al: A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset. Neurology 2000;55:1590–1591.

    External Resources

  5. Tang-Wai D, Boeve B, Lewis P, et al: Familial frontotemporal dementia associated with a novel presenilin-1 mutation (abstract). Neurology 2000;54:A150–A151.
  6. Hutton M, Busfield F, Wragg M, et al: Complete analysis of the presenilin 1 gene in early onset Alzheimer’s disease. Neuroreport 1996;7:801–805.

    External Resources

  7. Hutton M, Lendon CL, Rizzu P, et al: Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702–705.
  8. Scheuner D, Eckman C, Jensen M, et al: Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer’s disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer’s disease. Nat Med 1996;2:864–870.
  9. Kokmen E, Naessens J, Offord K: A short test of mental status: Description and preliminary results. Mayo Clin Proc 1987;62:281–288.
  10. Kokmen E, Smith G, Petersen R, Tangalos E, Ivnik R: The short test of mental status: Correlations with standardized psychometric testing. Arch Neurol 1991;48:725–728.
  11. Mattis S: Dementia Rating Scale: Professional Manual. Odessa, Psychological Assessment Resources, 1988.
  12. Wechsler D: Wechsler Adult Intelligence Scale-Revised (Manual). San Antonio, The Psychological Corporation, 1981.
  13. Reitan R: Validity of the Trail-Making Test as an indication of organic brain damage. Percept Mot Skills 1958;8:271–276.
  14. Stroop J: Studies of interference in serial verbal reaction. J Exp Psychol 1935;18:643–662.
  15. Kaplan E, Goodglass H, Weintraub S: The Boston Naming Test. Boston, Kaplan & Goodglass, 1978.
  16. Benton A, Hamsher K: Multilingual Aphasia Examination (Manual). Iowa City, University of Iowa, 1978.
  17. Heaton R: Wisconsin Card Sorting Test Manual. Odessa, Psychological Assessment Resources, 1981.
  18. Wechsler D: Wechsler Memory Scale-Revised (Manual). New York, Psychological Corporation, 1987.
  19. Rey A: L’Examen Clinique en Psychologie. Paris, Presses Universitaires de France, 1964.
  20. Buschke H: Cued recall in amnesia. J Clin Neuropsychol 1984;6:433–440.
  21. Grober E, Buschke H: Genuine memory deficits in dementia. Dev Neuropsychol 1987;3:13–36.
  22. Rey A: L’examen psychologique dan les cas d’encephalopathie traumatique. Arch Psychol 1941;28:286–340.
  23. Osterrieth P: Le test de copie d’une figure complexe. Arch Psychol 1944;30:206–356.
  24. Benton A, Hamsher K, Varney N, Spreen O: Contributions to Neuropsychological Assessment: A Clinical Manual. New York, Oxford University Press, 1983.
  25. Ivnik R, Malec J, Smith G, et al: Mayo’s Older American Normative Studies: WAIS-R, WMS-R, and AVLT norms for ages 56–97. Clin Neuropsychol 1992;6(suppl):1–104.
  26. Ivnik R, Malec J, Smith G, Tangalos E, Petersen R: Neuropsychological tests’ norms above age 55: COWAT, BNT, MAE Token, WRAT-R reading, AMNART, STROOP, TMT and JLO. Clin Neuropsychol 1996;10:262–278.
  27. Ivnik RJ, Smith GE, Lucas JA, Tangalos EG, Kokmen E, Petersen RC: Free and cued selective reminding test: MOANS norms. J Clin Exp Neuropsychol 1997;19:676–691.

    External Resources

  28. Lucas JA, Ivnik RJ, Smith GE, et al: Normative data for the Mattis Dementia Rating Scale. J Clin Exp Neuropsychol 1998;20:536–547.
  29. Lucas JA, Ivnik RJ, Smith GE, et al: Mayo’s older Americans normative studies: Category fluency norms. J Clin Exp Neuropsychol 1998;20:194–200.

    External Resources

  30. Miller BL, Cummings J, Mishkin F, et al: Emergence of artistic talent in frontotemporal dementia. Neurology 1998;51:978–982.
  31. Mesulam M-M: Principles of Behavioral Neurology. Contemporary Neurology Series. Philadelphia, Davis, 1985.
  32. Lilly R, Cummings JL, Benson DF, Frankel M: The human Kluver-Bucy syndrome. Neurology 1983;33:1141–1145.
  33. Rossor MN, Tyrrell PJ, Warrington EK, Thompson PD, Marsden CD, Lantos P: Progressive frontal gait disturbance with atypical Alzheimer’s disease and corticobasal degeneration. J Neurol Neurosurg Psychiatry 1999;67:345–352.
  34. Johnson JK, Head E, Kim R, Starr A, Cotman CW: Clinical and pathological evidence for a frontal variant of Alzheimer disease. Arch Neurol 1999;56:1233–1239.
  35. Neary D, Snowden J, Gustafson L, et al: Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria. Neurology 1998;51:1546–1554.
  36. Rogaeva EA, Fafel KC, Song YQ, et al: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 2001;57:621–625.

    External Resources