Frontotemporal Dementia (original) (raw)

Semin Neurol 2007; 27(1): 048-057
DOI: 10.1055/s-2006-956755

Copyright © 2007 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

• 1Department of Neurology, Mayo College of Medicine, Mayo Clinic Jacksonville, Jacksonville, Florida
• 2Department of Neurology, Mayo College of Medicine, Mayo Clinic Arizona, Scottsdale, Arizona

Further Information

Publication History

Publication Date:
17 January 2007 (online)

ABSTRACT

Frontotemporal dementia (FTD) is an uncommon but important form of degenerative disease. It may make up 50% of dementia cases presenting before age 60. The symptoms are related to the anatomic areas affected. Neary divided the clinical syndromes into “frontotemporal dementia,” “progressive nonfluent aphasia,” and “semantic dementia.” However, the pathology may extend beyond the frontal and temporal lobes and additional symptoms may be found. Although most cases are sporadic, some cases are genetic. The best-known genetic mutation causing FTD is frontotemporal dementia with parkinsonism, linked to the microtubule-associated protein tau on chromosome 17. There are other known genes and chromosome loci related to FTD. The most common pathology found is frontotemporal degeneration with ubiquitin inclusions. In contrast, FTD with Pick bodies is rare. Although there are strategies to help patients and their families, there is no known treatment for the disease.

KEYWORDS

Frontotemporal dementia - Pick's disease - primary progressive aphasia - tau - ubiquitin

REFERENCES

• 1 Pick A. Ueber die Beziehungen der senilen Hirnatrophie zur Aphasia. Prag Med Wochenschr. 1892; 17 165-167
• 2 Alzheimer A. Uber eigenartige Krankheitsfalle des spateren Alters. Z Ges Neurol Psychiatr. 1911; 4 356-385
• 3 Onari K, Spatz H. Anatomische Beitrage zur Lehre von der Pickschen umschriebenen Grosshirnrinden-Atrophie (“Picksche Krankheit”). Z Ges Neurol Psychiatr. 1926; 101 470-511
• 4 Mesulam M M. Slowly progressive aphasia without generalized dementia. Ann Neurol. 1982; 11 592-598
• 5 Neary D, Snowden J S, Gustafson L et al.. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998; 51 1546-1554
• 6 Knopman D S, Petersen R C, Edland S D, Cha R H, Rocca W A. The incidence of frontotemporal lobar degeneration in Rochester, Minnesota, 1990 through 1994. Neurology. 2004; 62 506-508
• 7 Warren J D, Schott J M, Fox N C et al.. Brain biopsy in dementia. Brain. 2005; 128 2016-2025
• 8 Neary D, Snowden J S, Gustafson L et al.. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998; 51 1546-1554
• 9 Kertesz A, Munoz D. Pick's disease, frontotemporal dementia, and Pick complex: emerging concepts. Arch Neurol. 1998; 55 302-304
• 10 McKhann G M, Albert M S, Grossman M, Miller B, Dickson D, Trojanowski J Q. Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol. 2001; 58 1803-1809
• 11 Kent R D, Duffy J R, Slama A, Kent J F, Clift A. Clinicoanatomic studies in dysarthria: review, critique, and directions for research. J Speech Lang Hear Res. 2001; 44 535-551
• 12 Mesulam M M. Primary progressive aphasia. Ann Neurol. 2001; 49 425-432
• 13 Le Rhun E, Richard F, Pasquier F. Natural history of primary progressive aphasia. Neurology. 2005; 65 887-891
• 14 Hutton M. Molecular genetics of chromosome 17 tauopathies. Ann NY Acad Sci. 2000; 920 63-73
• 15 Foster N L, Wilhelmsen K, Sima A A, Jones M Z, D'Amato C J, Gilman S. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants. Ann Neurol. 1997; 41 706-715
• 16 Reed L A, Wszolek Z K, Hutton M. Phenotypic correlations in FTDP-17. Neurobiol Aging. 2001; 22 89-107
• 17 Strong M J, Lomen-Hoerth C, Caselli R J, Bigio E, Yang W. Cognitive impairment, frontotemporal dementia, and the motor neuron diseases. Ann Neurol. 2003; 54(suppl 5) S20-S23
• 18 Boeve B F, Maraganore D M, Parisi J E et al.. Pathologic heterogeneity in clinically diagnosed corticobasal degeneration. Neurology. 1999; 53 795-800
• 19 Josephs K A, Petersen R C, Knopman D S et al.. Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP. Neurology. 2006; 66 41-48
• 20 Pasquier F, Fukui T, Sarazin M et al.. Laboratory investigations and treatment in frontotemporal dementia. Ann Neurol. 2003; 54(suppl 5) S32-S35
• 21 Whitwell J L, Jack Jr C R, Senjem M L, Josephs K A. Patterns of atrophy in pathologically confirmed FTLD with and without motor neuron degeneration. Neurology. 2006; 66 102-104
• 22 Short R A, Broderick D F, Patton A, Arvanitakis Z, Graff-Radford N R. Different patterns of magnetic resonance imaging atrophy for frontotemporal lobar degeneration syndromes. Arch Neurol. 2005; 62 1106-1110
• 23 Constantinidis J, Richard J, Tissot R. Pick's disease: histological and clinical correlations. Eur Neurol. 1974; 11 208-217
• 24 Goedert M. Introduction to the tauopathies. In: Dickson D Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders. Basel; ISN Neuropath Press 2003: 82-85
• 25 Munoz D G, Dickson D W, Bergeron C, Mackenzie I, Delacourte A, Zhukareva V. The neuropathology and biochemistry of frontotemporal dementia. Ann Neurol. 2003; 54(suppl 5) S24-S28
• 26 Knopman D S, Mastri A R, Frey II W H, Sung J H, Rustan T. Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia. Neurology. 1990; 40 251-256
• 27 Rademakers R, Cruts M, Dermaut B et al.. Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval. Mol Psychiatry. 2002; 7 1064-1074
• 28 Skibinski G, Parkinson N J, Brown J M et al.. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet. 2005; 37 806-808
• 29 Hosler B A, Siddique T, Sapp P C et al.. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA. 2000; 284 1664-1669
• 30 Kovach M J, Waggoner B, Leal S M et al.. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab. 2001; 74 458-475
• 31 Rademakers R, Melquist S, Cruts M et al.. High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet. 2005; 14 3281-3292
• 32 Pittman A M, Myers A J, Abou-Sleiman P et al.. Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J Med Genet. 2005; 42 837-846
• 33 Graff-Radford N. Presenilin mutations: variations in the behavioral phenotype with an emphasis on the frontotemporal dementia phenotype. In: Cummings J, Hardy J, Poncet M, Christen Y Genotype-Proteotype-Phenotype Relationships on Neurodegenerative Diseases. Berlin; Springer-Verlag 2005: 93-101
• 34 Hutton M, Lewis J, Dickson D, Yen S H, McGowan E. Analysis of tauopathies with transgenic mice. Trends Mol Med. 2001; 7 467-470

Neill R Graff-RadfordM.B.B.Ch. F.R.C.P.

Professor of Neurology, Mayo College of Medicine, Mayo Clinic Jacksonville

4500 San Pablo Road, Jacksonville, FL 32224