Presymptomatic cerebral blood flow changes in CHMP2B mutation carriers of familial frontotemporal dementia (FTD-3), measured with MRI

BMJ Open

Volumn 2, Issue 2, 2012, Pages

  Lunau, Line ^a   Mouridsen, Kim ^a   Rodell, Anders ^a   Østergaard, Leif ^a   Nielsen, Jørgen Erik ^b,c   Isaacs, Adrian ^d   Johannsen, Peter ^b  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b University of Copenhagen   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CHMP2B PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BRAIN BLOOD FLOW; BRAIN BLOOD VESSEL; BRAIN CAPILLARY; BRAIN TISSUE; CASE CONTROL STUDY; CHROMOSOME 3; CONTROLLED STUDY; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; HETEROZYGOTE; HIPPOCAMPUS; HUMAN; HUMAN TISSUE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PARIETAL LOBE; TEMPORAL LOBE; TISSUE PERFUSION;

EID: 84860484571     PISSN: None     EISSN: 20446055     Source Type: Journal    
DOI: 10.1136/bmjopen-2011-000368     Document Type: Article

References (24)

1. Skibinski G, Parkinson NJ, Brown JM, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 2005;37:806-8. (Pubitemid 41077105)
2. Urwin H, Authier A, Nielsen JE, et al. Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum Mol Genet 2010;19:2228-38.
3. Filimonenko M, Stuffers S, Raiborg C, et al. Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. J Cell Biol 2007;179:485-500. (Pubitemid 350074792)
4. Lee JA, Beigneux A, Ahmad ST, et al. ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration. Curr Biol 2007;17:1561-7. (Pubitemid 47380392)
5. van der Zee J, Urwin H, Engelborghs S, et al. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Hum Mol Genet 2008;17:313-22.
6. Gydesen S, Brown JM, Brun A, et al. Chromosome 3 linked frontotemporal dementia (FTD-3). Neurology 2002;59:1585-94. (Pubitemid 35387067)
7. Eskildsen SF, Ostergaard LR, Rodell AB, et al. Cortical volumes and atrophy rates in FTD-3 CHMP2B mutation carriers and related noncarriers. Neuroimage 2009;45:713-21.
8. Rohrer JD, Ahsan RL, Isaacs AM, et al. Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation. Dement Geriatr Cogn Disord 2009;27:182-6.
9. Holm IE, Isaacs AM, Mackenzie IR. Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD- 3) caused by mutation in the CHMP2B gene. Acta Neuropathol 2009;118:719-20.
10. Holm IE, Englund E, Mackenzie IR, et al. A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3. J Neuropathol Exp Neurol 2007;66:884-91. (Pubitemid 47530827)
11. Mackenzie IR, Neumann M, Bigio EH, et al. Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol 2009;117:15-18.
12. Ostergaard L. Principles of cerebral perfusion imaging by bolus tracking. J Magn Reson Imaging 2005;22:710-17. (Pubitemid 41741235)
13. Boxerman JL, Hamberg LM, Rosen BR, et al. MR contrast due to intravascular magnetic susceptibility perturbations. Magn Reson Med 1995;34:555-66.
14. Gonzalez RG, Fischman AJ, Guimaraes AR, et al. Functional MR in the evaluation of dementia: correlation of abnormal dynamic cerebral blood volume measurements with changes in cerebral metabolism on positron emission tomography with fludeoxyglucose F 18. AJNR Am J Neuroradiol 1995;16:1763-70.
15. Yoshiura T, Mihara F, Kuwabara Y, et al. MR relative cerebral blood flow mapping of Alzheimer disease: correlation with Tc-99m HMPAO SPECT. Acad Radiol 2002;9:1383-7. (Pubitemid 36331012)
16. Collins DL, Neelin P, Peters TM, et al. Automatic 3D intersubject registration of MR volumetric data in standardized Talairach space. J Comput Assist Tomogr 1994;18:192-205. (Pubitemid 24100002)
17. Collingnon A, Maes F, Delaere D, et al. Automated multi-modality image registration based on information theory. In: Bizais Y, Barillot C, Di Paola R, eds. Proceedings of the 14th International Conference on Information Processing in Medical Imaging. Computational Imaging and Vision 3. Boston: Kluwer, 1995:263-74.
18. Grabner G, Janke AL, Budge M, et al. Symmetric Atlasing and model based segmentation: an Application to the hippocampus in Older Adults. Med Image Comput Comput Assist Interv 2006;9:58-66. (Pubitemid 44609204)
19. Collins DL, Peters TM, Dai W, et al. Model-based segmentation of individual brain structures from MRI data. Proc SPIE 1992;1808:10-23. (Pubitemid 23620279)
20. Wu O, Ostergaard L, Weisskoff RM, et al. Tracer arrival timing-insensitive technique for estimating flow in MR perfusionweighted imaging using singular value decomposition with a block-circulant deconvolution matrix. Magn Reson Med 2003;50:164-74. (Pubitemid 36841872)
21. Luckhaus C, Flub MO, Wittsack HJ, et al. Detection of changed regional cerebral blood flow in mild cognitive impairment and early Alzheimer's dementia by perfusion-weighted magnetic resonance imaging. Neuroimage 2008;40:495-503.
22. Boeve BF, Tremont-Lukats IW, Waclawik AJ, et al. Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation. Brain 2005;128:752-72. (Pubitemid 40516914)
23. Janssen JC, Schott JM, Cipolotti L, et al. Mapping the onset and progression of atrophy in familial frontotemporal lobar degeneration. J Neurol Neurosurg Psychiatry 2005;76:162-8. (Pubitemid 40143701)
24. Urwin H, Ghazi-Noori S, Collinge J, et al. The role of CHMP2B in frontotemporal dementia. Biochem Soc Trans 2009;37:208-12.