Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S

Journal of Alzheimer's Disease

Volumn 31, Issue 4, 2012, Pages 741-749

  Deramecourt, Vincent ^a,b,c   Lebert, Florence ^a,c   Maurage, Claude Alain ^a,b,c   Fernandez Gomez, Francisco Jose ^a,b   Dujardin, Simon ^a,b   Colin, Morvane ^a,b   Sergeant, Nicolas ^a,b   Buée Scherrer, Valérie ^a,b   Clot, Fabienne ^d   Ber, Isabelle Le ^d,e,f   Brice, Alexis ^d,e,f   Pasquier, Florence ^a,c   Buée, Luc ^a,b  

^a UNIV LILLE   (France)

^b JEAN PIERRE AUBERT RESEARCH CENTER   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^f INSERM   (France)

Author keywords

Frontotemporal lobar degeneration; FTDP 17; MAPT; Pick body; progressive anarthria; semantic dementia; tau protein

Indexed keywords

MICROTUBULE ASSOCIATED PROTEIN; TAU PROTEIN;

ADULT; AGED; APRAXIA; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; BRAIN ATROPHY; CASE REPORT; CELL FRACTIONATION; CLINICAL ASSESSMENT; CLINICAL EXAMINATION; CYTOSOL; DECUBITUS; DISEASE SEVERITY; DYSARTHRIA; DYSPHAGIA; EXON; FAMILIAL DISEASE; FEMALE; FOOD INTAKE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC ANALYSIS; HEADACHE; HUMAN; HUMAN CELL; HYPERTENSION; HYPOTHYROIDISM; IMMUNOHISTOCHEMISTRY; MALE; MALNUTRITION; MEDICAL HISTORY; MEMORY DISORDER; MENINGIOMA; MICROTUBULE; MILD COGNITIVE IMPAIRMENT; MOTOR CORTEX; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPIC VARIATION; POSITIVE END EXPIRATORY PRESSURE; PREMOTOR CORTEX; PRIORITY JOURNAL; PROSOPAGNOSIA; PROTEIN AGGREGATION; PROTEIN BINDING; SEMANTIC DEMENTIA; SLEEP APNEA SYNDROME; SPASTIC PARAPLEGIA; SPEECH DISORDER; SPINAL CORD COMPRESSION;

EID: 84866339809     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-2012-120160     Document Type: Article

References (25)

1. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P (1998) Association of missense and 5-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393, 702-705.
2. van Swieten J, Spillantini MG (2007) Hereditary frontotemporal dementia caused by Tau gene mutations. Brain Pathol 17, 63-73.
3. Poorkaj P, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD (1998) Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 43, 815-825.
4. Spillantini MG, Crowther RA, Kamphorst W, Heutink P, van Swieten JC (1998) Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau. Am J Pathol 153, 1359-1363.
5. Seelaar H, Rohrer JD, Pijnenburg Y, Fox N, Van Swieten J (2011) Clinical, genetic and pathological heterogeneity of frontotemporal dementia: A review. J Neurol Neurosurg Psychiatry 82, 476-486.
6. Lebert F, Pasquier F, Souliez L, PetitH(1998) Frontotemporal behavioral scale. Alzheimer Dis Assoc Disord 12, 335-339.
7. 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 (1998) Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria. Neurology 51, 1546-1554.
8. DeramecourtV, Lebert F, Debachy B,Mackowiak-Cordoliani MA, Bombois S, Kerdraon O, Buee L, Maurage CA, Pasquier F (2010) Prediction of pathology in primary progressive language and speech disorders. Neurology 74, 42-49.
9. Sergeant N, David JP, Lefranc D, Vermersch P, Wattez A, Delacourte A (1997) Different distribution of phosphorylated tau protein isoforms in Alzheimer's and Pick's diseases. FEBS Lett 412, 578-582.
10. Kordower JH, Bloch J, Ma SY, Chu Y, Palfi S, Roitberg BZ, Emborg M, Hantraye P, D'eglon N, Aebischer P (1999) Lentiviral gene transfer to the non human primate brain. Exp Neurol 160, 1-16.
11. Hamdane M, Sambo AV, Delobel P, Begard S, Violleau A, Delacourte A, Bertrand P, Benavides J, BueeL(2003) Mitoticlike tau phosphorylation by p25-Cdk5 kinase complex. J Biol Chem 278, 34026-34034.
12. Buee-Scherrer V, Condamines O, Mourton-Gilles C, Jakes R, Goedert M, Pau B, Delacourte A (1996) AD2, a phosphorylation-dependent monoclonal antibody directed against tau proteins found in Alzheimer's disease. Brain Res Mol Brain Res 39, 79-88.
13. Seubert P, Mawal-Dewan M, Barbour R, Jakes R, Goedert M, Johnson GV, Litersky JM, Schenk D, Lieberburg I, Trojanowski JQ, et al. (1995) Detection of phosphorylated Ser262 in fetal tau, adult tau, and paired helical filament tau. J Biol Chem 270, 18917-18922.
14. Broussolle E, Bakchine S, Tommasi M, Laurent B, Bazin B, Cinotti L, Cohen L, Chazot G (1996) Slowly progressive anarthria with late anterior opercular syndrome: A variant form of frontal cortical atrophy syndromes. J Neurol Sci 144, 44-58.
15. Josephs KA, Duffy JR, Strand EA, Whitwell JL, Layton KF, Parisi JE, Hauser MF, Witte RJ, Boeve BF, Knopman DS, Dickson DW, Jack CR Jr, Petersen RC (2006) Clinicopathological and imaging correlates of progressive aphasia and apraxia of speech. Brain 129, 1385-1398.
16. Munoz DG, Ros R, Fatas M, Bermejo F, De Yebenes JG (2007) Progressive nonfluent aphasia associated with a new mutation V363I in tau gene. Am J Alzheimers Dis Other Demen 22, 294-299.
17. Rohrer JD, Ridgway GR, Modat M, Ourselin S, Mead S, Fox NC, Rossor MN, Warren JD (2010) Distinct profile of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations. Neuroimage 53, 1070-1076.
18. Spina S, Murrell JR, Yoshida H, Ghetti B, Bermingham N, Sweeney B, Dlouhy SR, Crowther RA, Goedert M, Keohane C (2007) The novel Tau mutation G335S: Clinical, neuropathological and molecular characterization. Acta Neuropathol 113, 461-470.
19. Neumann M, Diekmann S, Bertsch U, Vanmassenhove B, Bogerts B, Kretzschmar HA (2005) Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia. Neurogenetics 6, 91-95.
20. van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, Santens P, Caekebeke J, De Pooter T, Peeters K, Lubke U, Van den Broeck M, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C, Dermaut B (2006)ABelgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. Brain 129, 841-852.
21. Rossi G, Bastone A, Piccoli E, Mazzoleni G, Morbin M, Uggetti A, Giaccone G, Sperber S, Beeg M, Salmona M, Tagliavini F (2012) New mutations in MAPT gene causing frontotemporal lobar degeneration: Biochemical and structural characterization. Neurobiol Aging 33, 834.e1-e6.
22. Bugiani O, Murrell JR, Giaccone G, Hasegawa M, Ghigo G, Tabaton M, Morbin M, Primavera A, Carella F, Solaro C, Grisoli M, Savoiardo M, Spillantini MG, Tagliavini F, Goedert M, Ghetti B (1999) Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J Neuropathol Exp Neurol 58, 667-677.
23. Ros R, Thobois SS, Kopp N, Sanchez MP, Perez M, Hoenicka J, Avila J, Honnorat J, de Yebenes JG (2005) A new mutation in the tau gene, G303V, in early-onset familial progressive supranuclear palsy. Arch Neurol 62, 1444-1450.
24. Villa C, Ghezzi L, Pietroboni AM, Fenoglio C, Cortini F, Serpente M, Cantoni C, Ridolfi E, Marcone A, Benussi L, Ghidoni R, Jacini F, Arighi A, Fumagalli GG, Mandelli A, Binetti G, Cappa S, Bresolin N, Scarpini E, Galimberti D (2011) A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia. J Alzheimers Dis 26, 19-26.
25. Probst A, Tolnay M, Langui D, Goedert M, Spillantini MG (1996) Pick's disease: Hyperphosphorylated tau protein segregates to the somatoaxonal compartment. Acta Neuropathol (Berl) 92, 588-596.