Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein

Clinical Neuropathology

Volumn 26, Issue 5, 2007, Pages 232-240

  Krause, S ^a,b   Gohringer T ^a   Walter, M C ^a,b   Schoser, B G H ^a,b   Reilich, P ^a,b   Linn, J ^a   Popperl G E ^a   Frolich L ^c   Hentschel, F ^c   Lochmuller H ^a,b   Danek, A ^a,b  

^a UNIVERSITY OF MUNICH   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD); Neurodegeneration; Neurogenetics; Positron emission tomography; Semantic dementia

Indexed keywords

VALOSIN CONTAINING PROTEIN;

AGED; ANAMNESIS; ARTICLE; BRAIN SCINTISCANNING; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED EMISSION TOMOGRAPHY; CONTROLLED STUDY; ELECTROMYOGRAPHY; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INCLUSION BODY MYOPATHY; MALE; MYOPATHY; NEUROPSYCHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 34548652987     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/npp26232     Document Type: Article

References (32)

1. Beversdorf DQ, Heilman KM. Facilitory paratonia and frontal lobe functioning. Neurology. 1998; 51: 968-971.
2. Cairns NJ, Grossman M, Arnold SE, Burn DJ, Jaros E, Perry RH, Duyckaerts C, Stankoff B, Pillon B, Skullerud K, Cruz-Sanchez FF, Bigio EH, Mackenzie IR, Gearing M, Juntos JL, Glass JD, Yokoo H, Nakazato Y, Mosaheb S, Thorpe JR, Uryu K, Lee VM, Trojanowski JQ. Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease. Neurology. 2004; 63: 1376-1384.
3. Dai RM, Li CC. Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin-proteasome degradation. Nat Cell Biol. 2001; 3: 740-744.
4. Danek A, Göhringer T. Kognitive Neurologie und Neuropsychologie. In: Förstl H (ed). Frontalhirn. Funktionen und Erkrankungen. Berlin: Springer; 2005. pp. 41-82.
5. Davies RR, Hodges JR, Kril JJ, Patterson K, Halliday GM, Xuereb JH. The pathological basis of semantic dementia. Brain. 2005; 128: 1984-1995.
6. Dubois B, Slachevsky A, Pillon B, Beato R, Villalponda JM, Litvan I. "Applause sign" helps to discriminate PSP from FTD and PD. Neurology. 2005; 64: 2132-2133.
7. Ettlin TM, Kischka U, Beckson M, Gaggiotti M, Rauchfleisch U, Benson DF. The Frontal Lobe Score: part I: construction of a mental status of frontal systems. Clin Rehabil. 2000; 14: 260-271.
8. Glindermann R, Klintwort D, Ziegler W, Goldenberg G. Bogenhausener Semantik Untersuchung (BOSU). München: Urban und Fischer; 2002.
9. Griggs RC, Askanas V, DiMauro S, Engel A, Karpati G, Mendell JR, Rowland LP. Inclusion body myositis and myopathies. Ann Neurol. 1995; 38: 705-713.
10. Guyant-Marechal L, Laquerriere A, Duyckaerts C, Dumanchin C, Bou J, Dugny F, Le Ber I, Frebourg T, Hannequin D, Campion D. Valosin-containing protein gene mutations: clinical and neuropathologic features. Neurology. 2006; 67: 644-651.
11. Higashiyama H, Hirose F, Yamaguchi M, Inoue YH, Fujikake N, Matsukage A, Kakizuka A. Identification of ter94, Drosophila VCP, as a modulator of polyglutamine-induced neurodegeneration. Cell Death Differ. 2002; 9: 264-273.
12. Hodges JR, Davies RR, Xuereb JH, Casey B, Broe M, Bak TH, Kril JJ, Halliday GM. Clinicopathological correlates in frontotemporal dementia. Ann Neurol. 2004; 56: 399-406.
13. Huber W, Poeck K, Weniger D, Willmes K. Der Aachener Aphasie Test (AAT). Göttingen: Hogrefe; 1982.
14. Jackson M, Lennox G, Lowe J. Motor neuron disease-inclusion dementia. Neurodegeneration. 1996; 5: 339-350.
15. Kertesz A, Nadkarni N, Davidson W, Thomas AW. The Frontal Behavioral Inventory in the differential diagnosis of frontotemporal dementia. J Int Neuropsychol Soc. 2000; 6: 460-468.
16. Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE. 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.
17. Meyers JE, Meyers KR. Rey Complex Figure Test and Recognition Trial (RCFT): Professional Manual. Odessa, FL: Psychological Assessment Ressources; 1995.
18. Mizuno Y, Hori S, Kakizuka A, Okamoto K. Vacuole-creating protein in neurodegenerative diseases in humans. Neurosci Lett. 2003; 343: 77-80.
19. Morris JC. The Clinical Dementia Rating (CDR): current version and scoring rules. Neurology. 1993; 43: 2412-2414 (see also: http://www.biostat.wustl.edu/~adrc/cd-rpgm/index.html).
20. Morris JC, Heyman A, Mohs RC, Hughes JP, van Belle G, Fillenbaum G, Mellits ED, Clark C. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part I. Clinical and neuropsychological assessment of Alzheimer's disease. Neurology. 1989; 39: 1159-1165.
21. Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998; 51: 1546-1554.
22. Oswald WD, Fleischmann UM. Das Nürnberger Altersinventar (NAI). Göttingen: Testzentrale; 1999.
23. Phelps ME, Huang SC, Hoffman EJ, Selin C, Sokoloff L, Kuhl DE. Tomographic measurement of local cerebral glucose metabolic rate in humans with (F-18)2-fluoro-2-deoxy-D-glucose: validation of method. Ann Neurol. 1979; 6: 371-388.
24. Raven JC, Bulheller S, Häcker H. Colored Progressive Matrices (CPM). Göttingen: Hogrefe; 2002.
25. Royall DR, Heyman A, Gray KF. Bedside assessment of Alzheimer's disease. Neurology. 1992; 40: 1221-1226.
26. Royall DR, Mahurin RK, Gray KF. Bedside assessment of executive cognitive impairment: the executive interview. J Am Geriatr Soc. 1992; 40: 1221-1226.
27. Schröder R, Watts GD, Mehta SG, Evert BO, Broich P, Fliessbach K, Pauls K, Hans VH, Kimonis V, Thal DR. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol. 2005; 57: 457-461.
28. Shulman K, Gold D, Cohen C, Zucchero C. Clock-drawing and dementia in the community: A longitudinal study. Int J Geriatr Psychiatry. 1993; 8: 487-496.
29. Thalmann B, Monsch AU, Schneitter M, Bernasconi F, Aebi C, Camachova-Davet Z, Stähelin HB. The CERAD neuropsychological assessment battery (CERAD-NAB): A minimal data set as a common tool for German-speaking Europe. Neurobiol Aging. 2000; 21: S30.
30. Walter MC, Lochmüller H, Toepfer M, Schlotter B, Reilich P, Schröder M, Müller-Felber W, Pongratz D. High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled study. J Neurol. 2000; 247: 22-28.
31. Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE. 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.
32. Woodman PG. p97, a protein coping with multiple identities. J Cell Sci. 2003; 116: 4283-4290.