Presymptomatic studies in genetic frontotemporal dementia

Revue Neurologique

Volumn 169, Issue 10, 2013, Pages 820-824

  Rohrer, J D ^a   Warren, J D ^a   Fox, N C ^a   Rossor, M N ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

C9orf72; Frontotemporal dementia; Primary progressive aphasia; Progranulin; Tau

Indexed keywords

PROGRANULIN; TAU PROTEIN;

ASYMPTOMATIC DISEASE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 9; CONFERENCE PAPER; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPEN READING FRAME; PSYCHOMETRY;

APHASIE PROGRESSIVE PRIMAIRE; C9ORF72; DÉGÉNÉRESCENCE LOBAIRE FRONTOTEMPORALE; DÉMENCE FRONTOTEMPORALE; FRONTOTEMPORAL DEMENTIA; MAPT; PRIMARY PROGRESSIVE APHASIA; PROGRANULIN; PROGRANULINE; TAU;

ASYMPTOMATIC DISEASES; DIAGNOSTIC TECHNIQUES, NEUROLOGICAL; EARLY DIAGNOSIS; FRONTOTEMPORAL DEMENTIA; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES;

EID: 84884951314     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2013.07.010     Document Type: Conference Paper

References (31)

1. R.J. Bateman, C. Xiong, T.L. Benzinger, A.M. Fagan, A. Goate, and N.C. Fox Clinical and biomarker changes in dominantly inherited Alzheimer's disease N Engl J Med 367 2012 795 804
2. B. Borroni, A. Alberici, M. Cercignani, E. Premi, L. Serra, and C. Cerini Granulin mutation drives brain damage and reorganization from preclinical to symptomatic FTLD Neurobiol Aging 33 2012 2506 2520
3. B. Borroni, A. Alberici, E. Premi, S. Archetti, C. Garibotto, and C. Agosti Brain magnetic resonance imaging structural changes in a pedigree of asymptomatic progranulin mutation carriers Rejuvenation Res 11 2008 585 595 (Pubitemid 351931468)
4. A. Capell, S. Liebscher, K. Fellerer, N. Brouwers, M. Willem, and S. Lammich Rescue of progranulin deficiency associated with frontotemporal lobar degeneration by alkalizing reagents and inhibition of vacuolar ATPase J Neurosci 31 2011 1885 1894
5. B. Cenik, C.F. Sephton, C.M. Dewey, X. Xian, S. Wei, and K. Yu Suberoylanilide hydroxamic acid (Vorinostat) up-regulates progranulin transcription: rational therapeutic approach to frontotemporal dementia J Biol Chem 286 2011 16101 16108
6. C. Cruchaga, M.A. Fernández-Seara, M. Seijo-Martínez, L. Samaranch, E. Lorenzo, and A. Hinrichs Cortical atrophy and language network reorganization associated with a novel progranulin mutation Cereb Cortex 19 2009 1751 1760
7. M. Dejesus-Hernandez, I.R. Mackenzie, B.F. Boeve, A.L. Boxer, M. Baker, and N.J. Rutherford Hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS Neuron 2011 1 12
8. E.G.P. Dopper, S.A.R.B. Rombouts, L.C. Jiskoot, T.D. Heijer, J.R. de Graaf, and I.D. Koning Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia Neurology 80 2013 814 823
9. R. Ghidoni, E. Stoppani, G. Rossi, E. Piccoli, V. Albertini, and A. Paterlini Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study Neurodegener Dis 9 2012 121 127
10. J.C. Janssen, J.M. Schott, L. Cipolotti, N.C. Fox, R.I. Scahill, and K.A. Josephs Mapping the onset and progression of atrophy in familial frontotemporal lobar degeneration J Neurol Neurosurg Psychiatr 76 2005 162 168 (Pubitemid 40143701)
11. K. Kantarci, B.F. Boeve, Z.K. Wszolek, R. Rademakers, J.L. Whitwell, and M.C. Baker MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology Neurology 75 2010 771 778
12. C.J. Mahoney, J. Beck, J.D. Rohrer, T. Lashley, K. Mok, and T. Shakespeare Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features Brain 135 2012 736 750
13. E. Mioshi, S. Hsieh, S. Savage, M. Hornberger, and J.R. Hodges Clinical staging and disease progression in frontotemporal dementia Neurology 74 20 2010 1591 1597
14. M. Miyoshi, H. Shinotoh, Z.K. Wszolek, A.J. Strongosky, H. Shimada, and R. Arakawa In vivo detection of neuropathologic changes in presymptomatic MAPT mutation carriers: a PET and MRI study Parkinsonism Relat Disord 16 2010 404 408
15. J.C. Morris, S. Weintraub, H.C. Chui, J. Cummings, C. Decarli, and S. Ferris The Uniform Data Set (UDS): clinical and cognitive variables and descriptive data from Alzheimer Disease Centers Alzheimer Dis Assoc Disord 20 4 2006 210 216 (Pubitemid 44900933)
16. A.E. Renton, E. Majounie, A. Waite, J. Simón-Sánchez, S. Rollinson, and J.R. Gibbs A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Neuron 2011 1 12
17. J.D. Rohrer, R. Guerreiro, J. Vandrovcova, J. Uphill, D. Reiman, and J. Beck The heritability and genetics of frontotemporal lobar degeneration Neurology 73 2009 1451 1456
18. J.D. Rohrer, G.R. Ridgway, M. Modat, S. Ourselin, S. Mead, and N.C. Fox Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations Neuroimage 53 2010 1070 1076
19. J.D. Rohrer, and H.J. Rosen Neuroimaging in frontotemporal dementia Int Rev Psychiatry 25 2013 221 229
20. J.D. Rohrer, and J.D. Warren Phenotypic signatures of genetic frontotemporal dementia Curr Opin Neurol 24 2011 542 549
21. J.D. Rohrer, J.D. Warren, J. Barnes, S. Mead, J. Beck, and T. Pepple Mapping the progression of progranulin-associated frontotemporal lobar degeneration Nat Clin Pract Neurol 4 2008 455 460
22. E. Rubino, I. Rainero, A. Chiò, E. Rogaeva, D. Galimberti, and P. Fenoglio SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Neurology 79 2012 1556 1562
23. H. Seelaar, J.D. Rohrer, Y.A.L. Pijnenburg, N.C. Fox, and J.C. van Swieten Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review J Neurol Neurosurg Psychiatr 82 2011 476 486
24. J. Simón-Sánchez, E.G.P. Dopper, P.E. Cohn-Hokke, R.K. Hukema, N. Nicolaou, and H. Seelaar The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions Brain 135 2012 723 735
25. S.J. Tabrizi, D.R. Langbehn, B.R. Leavitt, R.A. Roos, A. Durr, and D. Craufurd Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data Lancet Neurol 8 9 2009 791 801
26. J.C. Van Swieten, and P. Heutink Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia Lancet Neurol 7 2008 965 974
27. J.C. Van Swieten, and M.G. Spillantini Hereditary frontotemporal dementia caused by Tau gene mutations Brain Pathol 17 2007 63 73
28. J.D. Warren, J.D. Rohrer, and J. Hardy Disintegrating brain networks: from syndromes to molecular nexopathies Neuron 73 6 2012 1060 1062
29. H.J. Wear, C.J. Wedderburn, E. Mioshi, C.H. Williams-Gray, S.L. Mason, and R.A. Barker The Cambridge Behavioural Inventory revised Dementia Neuropsychologia 2 2 2008 102 107
30. J.L. Whitwell, K.A. Josephs, R. Avula, N. Tosakulwong, S.D. Weigand, and M.L. Senjem Altered functional connectivity in asymptomatic MAPT subjects: a comparison to bvFTD Neurology 77 2011 866 874
31. J.L. Whitwell, S.D. Weigand, B.F. Boeve, M.L. Senjem, J.L. Gunter, and M. DeJesus-Hernandez Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics Brain 135 2012 794 806