Frontotemporale Lobärdegenerationen

Lernziele

Kenntnisse über:

Bildgebung bei frontotemporalen Lobärdegenerationen, Neuropathologie, Genetik.

Der zweite Teil unserer Übersicht zur frontotemporalen Lobärdegeneration (FTLD) beschäftigt sich mit den in Bildgebung, Neuropathologie und Genetik fassbaren Krankheitsgrundlagen. Anschließend diskutieren wir den klinisch-diagnostischen Stellenwert apparativer Untersuchungen. Bereits in Teil I wurden die Diagnose und Therapie der FTLD behandelt [1].

Literatur

• 1 Danek A, Diehl-Schmid J, Grimmer T. et al . Frontotemporale Lobärdegenerationen I. Diagnose und Therapie.  Fortschr Neurol Psychiat. 2009;  77 169-179
• 2 Förstl H, Baldwin B. Pick und die fokalen Hirnatrophien.  Fortschr Neurol Psychiat. 1994;  62 345-355
• 3 Schmitt H P, Yang Y, Förstl H. Frontal lobe degeneration of non-Alzheimer type and Pick’s atrophy – lumping or splitting.  Europ Arch Psychiat Clin Neurosci. 1995;  245 299-305
• 4 Mendez M F, Shapira J S, McMurtray A. et al . Accuracy of the clinical evaluation for frontotemporal dementia.  Arch Neurol. 2007;  64 830-835
• 5 Mosconi L, Tsui W H, Herholz K. et al . Multicenter Standardized 18F-FDG PET Diagnosis of Mild Cognitive Impairment, Alzheimer’s Disease, and Other Dementias.  J Nucl Med. 2008;  49 390-398
• 6 Foster N L, Heidebrink J L, Clark C M. et al . FDG-PET improves accuracy in distinguishing frontotemporal dementia and Alzheimer’s disease.  Brain. 2007;  130 2616-2635
• 7 Perneczky R, Diehl Schmid J, Förstl H. et al . Urinary incontinence and its functional anatomy in frontotemporal lobar degenerations.  Europ J Nuclear Med Molecular Imaging. 2008;  35 605-610
• 8 Brambati S M, Renda N C, Rankin K P. et al . A tensor based morphometry study of longitudinal gray matter contraction in FTD.  Neuroimage. 2007;  35 998-1003
• 9 Grimmer T, Diehl J, Drzezga A. et al . Region-specific decline of cerebral glucose metabolism in patients with frontotemporal dementia: a prospective F-18-FDG-study.  Dementia Geriat Cogn Disord. 2004;  18 32-36
• 10 Diehl-Schmid J, Grimmer T, Drzezga A. et al . Decline of cerebral glucose metabolism in frontotemporal dementia: a longitudinal 18F-FDG-PET-study.  Neurobiol Aging. 2007;  28 42-50
• 11 Davies R R, Kipps C M, Mitchell J. et al . Progression in frontotemporal dementia: identifying a benign behavioral variant by magnetic resonance imaging.  Arch Neurol. 2006;  63 1627-1631
• 12 Laws S M, Perneczky R R, Drzezga A. et al . Association of tau haplotype H 2 with age at onset and functional alterations of glucose utilization in frontotemporal dementia.  Am J Psychiat. 2007;  164 1577-1584
• 13 Perneczky R, Diehl-Schmid J, Förstl H. et al . Male gender is associated with greater cerebral hypometabolism in frontotemporal dementia: evidence for sex-related cognitive reserve.  Int J Geriat Psychiat. 2007;  22 1135-1140
• 14 Diehl-Schmid J, Grimmer T, Drzezga A. et al . Longitudinal changes of cerebral glucose metabolism in semantic dementia.  Dement Geriatr Cogn Disord. 2006;  22 346-351
• 15 Diehl J, Grimmer T, Drzezga A. et al . Cerebral metabolic patterns at early stages of frontotemporal dementia and semantic dementia: a PET study.  Neurobiol Aging. 2004;  25 1051-1056
• 16 Nestor P J, Graham N L, Fryer T D. et al . Progressive non-fluent aphasia is associated with hypometabolism centred on the left anterior insula.  Brain. 2003;  126 2406-2418
• 17 Perneczky R, Diehl-Schmid J, Pohl C. et al . Non-fluent progressive aphasia: Cerebral metabolic patterns and brain reserve.  Brain Res. 2007;  1133 178-185
• 18 Nestor P J, Balan K, Cheow H K. et al . Nuclear imaging can predict pathologic diagnosis in progressive nonfluent aphasia.  Neurology. 2007;  68 238-239
• 19 Cairns N J, Bigio E H, Mackenzie I R. et al . Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration.  Acta Neuropathol. 2007;  114 5-22
• 20 Neumann M, Sampathu D M, Kwong L K. et al . Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.  Science. 2006;  314 130-133
• 21 Neumann M, Kwong L K, Sampathu D M. et al . TDP-43 Proteinopathy in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis: Protein Misfolding Diseases Without Amyloidosis.  Arch Neurol. 2007;  64 1388-1394
• 22 Mackenzie I R, Foti D, Woulfe J. et al . Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions.  Brain. 2008;  131 1282-1293
• 23 Hutton M, Lendon C L, 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
• 24 Rademakers R, Cruts M, Broeckhoven van C. The role of tau (MAPT) in frontotemporal dementia and related tauopathies.  Hum Mutat. 2004;  24 277-295
• 25 Laws S M, Friedrich P, Diehl-Schmid J. et al . Genetic analysis of MAPT haplotype diversity in frontotemporal dementia.  Neurobiol Aging. 2008;  29 1276-1278
• 26 Baker M, Mackenzie I R, Pickering-Brown S M. et al . Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.  Nature. 2006;  442 916-919
• 27 Cruts M, Gijselinck I, Zee van der J. et al . Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.  Nature. 2006;  442 920-924
• 28 Pastor P, Ezquerra M, Perez J C. et al . Novel haplotypes in 17q21 are associated with progressive supranuclear palsy.  Ann Neurol. 2004;  56 249-258
• 29 Pickering-Brown S M, Baker M, Gass J. et al . Mutations in progranulin explain atypical phenotypes with variants in MAPT.  Brain. 2006;  129 3124-3126
• 30 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
• 31 Reed L A, Wszolek Z K, Hutton M. Phenotypic correlations in FTDP-17.  Neurobiol Aging. 2001;  22 89-107
• 32 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
• 33 Vance C, Al-Chalabi A, Ruddy D. et al . Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9 p13.2 – 21.3.  Brain. 2006;  129 868-876
• 34 Watts G D, Thomasova D, Ramdeen S K. et al . Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.  Clin Genet. 2007;  72 420-426
• 35 Watts G D, Wymer J, Kovach M J. et al . Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.  Nat Genet. 2004;  36 377-381
• 36 Schumacher A, Friedrich P, Diehl J. et al . No association of common VCP variants with sporadic frontotemporal dementia.  Neurobiol Aging. epub;  (angenommen)
• 37 Schumacher A, Friedrich P, Diehl-Schmid J. et al . No association of chromatin-modifying protein 2B with sporadic frontotemporal dementia.  Neurobiol Aging. 2007;  28 1789-1790
• 38 Kabashi E, Valdmanis P N, Dion P. et al . TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.  Nat Genet. 2008;  40 572-574
• 39 Sreedharan J, Blair I P, Tripathi V B. et al . TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.  Science. 2008;  319 1668-1672
• 40 Van Deerlin V M, Leverenz J B, Bekris L M. et al . TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.  Lancet Neurol. 2008;  7 409-416
• 41 Rollinson S, Snowden J S, Neary D. et al . TDP-43 gene analysis in frontotemporal lobar degeneration.  Neurosci Lett. 2007;  419 1-4
• 42 Schumacher A, Friedrich P, Diehl-Schmid J. et al . No association of TDP-43 with sporadic frontotemporal dementia.  Neurobiol Aging. 2009;  30 157-159
• 43 Benke T, Donnemiller E. The diagnosis of frontotemporal dementia.  Fortschr Neurol Psychiat. 2002;  70 243-251
• 44 Diehl J, Monsch A U, Aebi C. et al . Frontotemporal dementia, semantic dementia, and Alzheimer’s disease: the contribution of standard neuropsychological tests to differential diagnosis.  J Geriat Psychiat Neurol. 2005;  18 39-44
• 45 Bian H, Swieten J C, Leight van S. et al . CSF biomarkers in frontotemporal lobar degeneration with known pathology.  Neurology. 2008;  70 1827-1835
• 46 Riemenschneider M, Wagenpfeil S, Diehl J. et al . Tau and Abeta42 protein in CSF of patients with frontotemporal degeneration.  Neurology. 2002;  58 1622-1628
• 47 Riemenschneider M, Diehl J, Müller U. et al . Apolipoprotein E polymorphism in German patients with frontotemporal degeneration.  J Neurol Neurosurg Psychiat. 2002;  72 639-641
• 48 Besthorn C, Sattel H, Hentschel F. et al . Quantitative EEG in frontal lobe degeneration.  J Neural Transm Suppl. 1996;  47 169-181
• 49 Lindau M, Jelic V, Johannson S E. et al . Quantitative EEG-abnormalities and cognitive dysfunctions in frontotemporal dementia and Alzheimer’s disease.  Dementia Geriat Cog Disord. 2003;  15 106-114
• 50 Förstl H, Besthorn C, Hentschel F. et al . Frontal lobe degeneration and Alzheimer’s disease: a controlled study on clinical findings, volumetric brain changes and quantitative electroencephalography data.  Dementia. 1996;  7 27-34
• 51 Förstl H. Neurodegenerative und verwandte Erkrankungen. Förstl H Frontalhirn – Funktionen und Erkrankungen Heidelberg; Springer 2005 2. Aufl: 144-175