A case of logopenic primary progressive aphasia with C9ORF72 expansion and cortical florbetapir binding

Journal of Alzheimer's Disease

Volumn 42, Issue 2, 2014, Pages 413-420

  Saint Aubert, Laure ^a,b   Sagot, Catherine ^c   Wallon, David ^d,e   Hannequin, Didier ^d,e   Payoux, Pierre ^a,b,f   Nemmi, Federico ^a,b   Bezy, Catherine ^f   Chauveau, Nicolas ^a,b   Campion, Dominique ^d,e   Puel, Michèle ^a,b,f   Chollet, François ^a,b,f   Pariente, Jérémie ^a,b,f  

^a CNRS   (France)

^b UNIVERSITÉ DE TOULOUSE   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d UNIVERSITÉ DE ROUEN   (France)

^e ROUEN UNIVERSITY HOSPITAL   (France)

^f TOULOUSE UNIVERSITY HOSPITAL   (France)

Author keywords

Alzheimer's disease; C9ORF72 expansion; florbetapir; logopenic primary aphasia

Indexed keywords

AMYLOID; APOLIPOPROTEIN E; BIOLOGICAL MARKER; FLORBETAPIR F 18; C9ORF72 PROTEIN, HUMAN; FLUORODEOXYGLUCOSE F 18; PROTEIN;

AGED; ALZHEIMER DISEASE; ARTICLE; BRAIN CORTEX ATROPHY; CASE REPORT; CEREBROSPINAL FLUID; COMPREHENSION; CONTROLLED STUDY; FEMALE; GENOTYPE; HETEROZYGOTE; HUMAN; LANGUAGE DISABILITY; MEMORY DISORDER; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; POSITRON EMISSION TOMOGRAPHY; PRIMARY PROGRESSIVE APHASIA; SHORT TERM MEMORY; VERBAL MEMORY; VISUAL MEMORY; BRAIN CORTEX; BRAIN MAPPING; GENETICS; PATHOLOGY; THREE DIMENSIONAL IMAGING;

AGED; APHASIA, PRIMARY PROGRESSIVE; BRAIN MAPPING; CEREBRAL CORTEX; FEMALE; FLUORODEOXYGLUCOSE F18; HUMANS; IMAGING, THREE-DIMENSIONAL; MAGNETIC RESONANCE IMAGING; POSITRON-EMISSION TOMOGRAPHY; PROTEINS;

EID: 84916894648     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-140222     Document Type: Article

References (62)

1. Gorno-Tempini ML, Dronkers NF, Rankin KP, Ogar JM, Phengrasamy L, Rosen HJ, Johnson JK, Weiner MW, Miller BL (2004) Cognition and anatomy in three variants of primary progressive aphasia. Ann Neurol 55, 335-346.
2. Rabinovici GD, Jagust WJ, Furst AJ, Ogar JM, Racine CA, Mormino EC, O'Neil JP, Lal RA, Dronkers NF, Miller BL, Gorno-Tempini ML (2008) Abeta amyloid and glucose metabolism in three variants of primary progressive aphasia. Ann Neurol 64, 388-401.
3. de Souza LC, Lamari F, Belliard S, Jardel C, Houillier C, De Paz R, Dubois B, Sarazin M (2011) Cerebrospinal fluid biomarkers in the differential diagnosis of Alzheimer's disease from other cortical dementias. J Neurol Neurosurg Psychiatry 82, 240-246.
4. MesulamMM(2001) Primary progressive aphasia. Ann Neurol 49, 425-432.
5. Gorno-Tempini ML, Hillis AE, Weintraub S, Kertesz A, Mendez M, Cappa SF, Ogar JM, Rohrer JD, Black S, Boeve BF, Manes F, Dronkers NF, Vandenberghe R, Rascovsky K, Patterson K, Miller BL, Knopman DS, Hodges JR, Mesulam MM, Grossman M (2011) Classification of primary progressive aphasia and its variants. Neurology 76, 1006-1014.
6. Leyton CE, Villemagne VL, Savage S, Pike KE, Ballard KJ, Piguet O, Burrell JR, Rowe CC, Hodges JR (2011) Subtypes of progressive aphasia: Application of the International Consensus Criteria and validation using beta-amyloid imaging. Brain 134, 3030-3043.
7. Gefen T, Gasho K, Rademaker A, Lalehzari M, Weintraub S, Rogalski E, Wieneke C, Bigio E, Geula C, Mesulam MM (2012) Clinically concordant variations of Alzheimer pathology in aphasic versus amnestic dementia. Brain 135, 1554-1565.
8. Mesulam M,Wicklund A, Johnson N, Rogalski E, Leger GC, Rademaker A,Weintraub S, Bigio EH (2008) Alzheimer and frontotemporal pathology in subsets of primary progressive aphasia. Ann Neurol 63, 709-719.
9. Mesulam M (2008) Primary progressive aphasia pathology. Ann Neurol 63, 124-125.
10. Snowden JS, Thompson JC, Stopford CL, Richardson AM, Gerhard A, Neary D, MannDM(2011) The clinical diagnosis of early-onset dementias: Diagnostic accuracy and clinicopathological relationships. Brain 134, 2478-2492.
11. 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.
12. Harris JM, Gall C, Thompson JC, Richardson AM, Neary D, du Plessis D, Pal P, Mann DM, Snowden JS, Jones M (2013) Classification and pathology of primary progressive aphasia. Neurology 81, 1832-1839.
13. Mesulam MM, Weintraub S, Rogalski EJ, Wieneke C, Geula C, Bigio EH (2014) Asymmetry and heterogeneity of Alzheimer's and frontotemporal pathology in primary progressive aphasia. Brain 137(Pt 4), 1176-1192.
14. Murray ME, Graff-Radford NR, Ross OA, Petersen RC, Duara R, Dickson DW (2011) Neuropathologically defined subtypes of Alzheimer's disease with distinct clinical characteristics: A retrospective study. Lancet Neurol 10, 785-796.
15. Bettens K, Sleegers K, Van Broeckhoven C (2013) Genetic insights in Alzheimer's disease. Lancet Neurol 12, 92-104.
16. Wallon D, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Marechal L, Martinaud O, Pariente J, Puel M, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonniere C, Thomas-Anterion C, Paquet C, Moreaud O, Gabelle A, Sellal F, Sauvee M, Laquerriere A, Duyckaerts C, Delisle MB, Streichenberger N, Lannes B, Frebourg T, Hannequin D, Campion D (2012) The French series of autosomal dominant early onset Alzheimer's disease cases: Mutation spectrum and cerebrospinal fluid biomarkers. J Alzheimers Dis 30, 847-856.
17. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N,Wojtas A, Sengdy P, Hsiung GY, Karydas A, SeeleyWW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R (2013) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245-256.
18. Lattante S, Conte A, Zollino M, Luigetti M, Del Grande A, Marangi G, Romano A, Marcaccio A, Meleo E, Bisogni G, Rossini PM, Sabatelli M (2012) Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease. Neurology 79, 66-72.
19. Mackenzie IR, Neumann M, Baborie A, Sampathu DM, Du Plessis D, Jaros E, Perry RH, Trojanowski JQ, Mann DM, Lee VM (2011) A harmonized classification system for FTLDTDP pathology. Acta Neuropathol 122, 111-113.
20. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257-268.
21. Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW, 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77, 639-646.
22. Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D (2013) The C9orf72 GGGGCC repeat is translated into aggregating dipeptiderepeat proteins in FTLD/ALS. Science 339, 1335-1338.
23. Thomas M, Alegre-Abarrategui J, Wade-Martins R (2013) RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum. Brain 136, 1345-1360.
24. Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, Pasquier F, Mondon K, Dion PA, Rochefort D, Rouleau GA, Durr A, Brice A (2013) C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain 136, 385-391.
25. Hensman Moss DJ, Poulter M, Beck J, Hehir J, Polke JM, Campbell T, Adamson G, Mudanohwo E, McColgan P, Haworth A, Wild EJ, Sweeney MG, Houlden H, Mead S, Tabrizi SJ (2014) C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology 82, 292-299.
26. Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW,Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet 92, 345-353.
27. Wallon D, Rovelet-Lecrux A, Deramecourt V, Pariente J, Auriacombe S, Le Ber I, Schraen S, Pasquier F, Campion D, Hannequin D (2012) Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers. J Alzheimers Dis 32, 19-22.
28. Deloche G, Hannequin D (1997) DO 80: Epreuve de Dénomination Orale d'images.
29. Lezak M, Howieson D, Loring D (2004) Neuropsychological Assessment, Oxford University Press.
30. Barbeau E, Didic M, Tramoni E, Felician O, Joubert S, Sontheimer A, Ceccaldi M, PoncetM(2004) Evaluation of visual recognition memory in MCI patients. Neurology 62, 1317-1322.
31. Mahieux F, Onen F, Berr C, Volteau M, Habert MO, Legrain S, Dubois B (2009) Early detection of patients in the pre demented stage of Alzheimer's disease: The Pre-Al Study. J Nutr Health Aging 13, 21-26.
32. Agniel A, Joanette Y, Doyon B, Duchein C (1992) Protocole Montréal-Toulouse d'Examen Des Gnosies Visuelles (PEGV) et Des Gnosies Auditives (PEGA), Isbergues.
33. Wiltfang J, Esselmann H, Bibl M, Hull M, Hampel H, Kessler H, Frolich L, Schroder J, Peters O, Jessen F, Luckhaus C, Perneczky R, Jahn H, Fiszer M, Maler JM, Zimmermann R, Bruckmoser R,Kornhuber J, Lewczuk P (2007) Amyloid beta peptide ratio 42/40 but not A beta 42 correlates with phospho- Tau in patients with low- and high-CSF A beta 40 load. J Neurochem 101, 1053-1059.
34. Choi SR, Golding G, Zhuang Z, Zhang W, Lim N, Hefti F, Benedum TE, Kilbourn MR, Skovronsky D, Kung HF (2009) Preclinical properties of 18F-AV-45: A PET agent for Abeta plaques in the brain. J Nucl Med 50, 1887-1894.
35. Lin KJ, Hsu WC, Hsiao IT, Wey SP, Jin LW, Skovronsky D, Wai YY, Chang HP, Lo CW, Yao CH, Yen TC, Kung MP (2010) Whole-body biodistribution and brain PET imaging with 18F AV-45, a novel amyloid imaging agent-a pilot study. Nucl Med Biol 37, 497-508.
36. Clark CM, Schneider JA, Bedell BJ, Beach TG, Bilker WB, Mintun MA, Pontecorvo MJ, Hefti F, Carpenter AP, Flitter ML, Krautkramer MJ, Kung HF, Coleman RE, Doraiswamy PM, Fleisher AS, Sabbagh MN, Sadowsky CH, Reiman EP, Zehntner SP, Skovronsky DM (2011) Use of florbetapir-PET for imaging beta-amyloid pathology. JAMA 305, 275-283.
37. Dubois B, Feldman HH, Jacova C, Cummings JL, Dekosky ST, Barberger-Gateau P, Delacourte A, Frisoni G, Fox NC, Galasko D, Gauthier S, Hampel H, Jicha GA, Meguro K, O'Brien J, Pasquier F, Robert P, Rossor M, Salloway S, Sarazin M, de Souza LC, Stern Y, Visser PJ, Scheltens P (2010) Revising the definition of Alzheimer's disease: A new lexicon. Lancet Neurol 9, 1118-1127.
38. Saint-Aubert L, Barbeau EJ, Peran P, Nemmi F, Vervueren C, Mirabel H, Payoux P, Hitzel A, Bonneville F, Gramada R, Tafani M, Vincent C, Puel M, Dechaumont S, Chollet F, Pariente J (2013) Cortical florbetapir-PET amyloid load in prodromal Alzheimer's disease patients. EJNMMI Res 3, 43.
39. Querbes O, Aubry F, Pariente J, Lotterie JA, Demonet JF, Duret V, Puel M, Berry I, Fort JC, Celsis P (2009) Early diagnosis of Alzheimer's disease using cortical thickness: Impact of cognitive reserve. Brain 132, 2036-2047.
40. Tzourio-Mazoyer N, Landeau B, Papathanassiou D, Crivello F, Etard O, Delcroix N, Mazoyer B, Joliot M (2002) Automated anatomical labeling of activations in SPM using a macroscopic anatomical parcellation of the MNI MRI singlesubject brain. Neuroimage 15, 273-289.
41. Harms M, Benitez BA, Cairns N, Cooper B, Cooper P, Mayo K, Carrell D, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, Mayeux R, Chakraverty S, Goate AM, Cruchaga C (2013) C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. JAMA Neurol 70, 736-741.
42. Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova O, Troncoso JC, Hardy J, Singleton AB, Traynor BJ (2012) Repeat expansion in C9ORF72 in Alzheimer's disease. N Engl J Med 366, 283-284.
43. Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW (2011) Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 122, 673-690.
44. Bieniek KF, Murray ME, Rutherford NJ, Castanedes-Casey M, DeJesus-Hernandez M, Liesinger AM, Baker MC, Boylan KB, Rademakers R, Dickson DW (2013) Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion. Acta Neuropathol 125, 289-302.
45. Wojtas A, Heggeli KA, Finch N, Baker M, Dejesus- Hernandez M, Younkin SG, Dickson DW, Graff-Radford NR, Rademakers R (2013) C9ORF72 repeat expansions and other FTD gene mutations in a clinicalADpatient series from Mayo Clinic. Am J Neurodegener Dis 1, 107-118.
46. Satoh J, Tabunoki H, Ishida T, Saito Y, Arima K (2012) Dystrophic neurites express C9orf72 in Alzheimer's disease brains. Alzheimers Res Ther 4, 33.
47. Gendron TF, Belzil VV, Zhang YJ, Petrucelli L (2014) Mechanisms of toxicity in C9FTLD/ALS. Acta Neuropathol 127, 359-376.
48. Rabinovici GD, Furst AJ, O'Neil JP, Racine CA, Mormino EC, Baker SL, Chetty S, Patel P, Pagliaro TA, Klunk WE, Mathis CA, Rosen HJ, Miller BL, Jagust WJ (2007) 11C-PIB PET imaging in Alzheimer disease and frontotemporal lobar degeneration. Neurology 68, 1205-1212.
49. Ossenkoppele R, Prins ND, Pijnenburg YA, Lemstra AW, van der Flier WM, Adriaanse SF, Windhorst AD, Handels RL, Wolfs CA, Aalten P, Verhey FR, Verbeek MM, van Buchem MA,Hoekstra OS, Lammertsma AA, Scheltens P, van Berckel BN (2013) Impact of molecular imaging on the diagnostic process in a memory clinic. Alzheimers Dement 9, 414-421.
50. Rowe CC, Ng S, Ackermann U, Gong SJ, Pike K, Savage G, Cowie TF, Dickinson KL, Maruff P, Darby D, Smith C, Woodward M, Merory J, Tochon-Danguy H, O'Keefe G, Klunk WE,Mathis CA, Price JC, Masters CL,Villemagne VL (2007) Imaging beta-amyloid burden in aging and dementia. Neurology 68, 1718-1725.
51. Villemagne VL, Ong K, Mulligan RS, Holl G, Pejoska S, Jones G, O'Keefe G, Ackerman U, Tochon-Danguy H, Chan JG, Reininger CB, Fels L, Putz B, Rohde B, Masters CL, Rowe CC (2011) Amyloid imaging with (18)F-florbetaben in Alzheimer disease and other dementias. J Nucl Med 52, 1210-1217.
52. Whitwell JL, Lowe VJ, Duffy JR, Strand EA, Machulda MM, Kantarci K, Wille SM, Senjem ML, Murphy MC, Gunter JL, Jack CR Jr, Josephs KA (2013) Elevated occipital betaamyloid deposition is associated with widespread cognitive impairment in logopenic progressive aphasia. J Neurol Neurosurg Psychiatry 84, 1357-1364.
53. Mendez MF, Sabodash V (2013) Clinical amyloid imaging in logopenic progressive aphasia. Alzheimer Dis Assoc Disord, in press.
54. Lehmann M, Ghosh PM, Madison C, Laforce R Jr, Corbetta-Rastelli C, Weiner MW, Greicius MD, Seeley WW, Gorno-Tempini ML, Rosen HJ, Miller BL, Jagust WJ, Rabinovici GD (2013) Diverging patterns of amyloid deposition and hypometabolism in clinical variants of probable Alzheimer's disease. Brain 136, 844-858.
55. Martikainen MH, Gardberg M, Jansson L, Roytta M, Rinne JO, Kaasinen V (2014) Brain (18)F-FDG and (11)C-PiB PET findings in two siblings with FTD/ALS associated with the C9ORF72 repeat expansion. Neurocase 20, 150-157.
56. HuWT, McMillan C, Libon D, Leight S, Forman M, Lee VM, Trojanowski JQ, Grossman M (2010) Multimodal predictors for Alzheimer disease in nonfluent primary progressive aphasia. Neurology 75, 595-602.
57. Rogalski E, Cobia D, Harrison TM, Wieneke C, Weintraub S, MesulamMM(2011) Progression of language decline and cortical atrophy in subtypes of primary progressive aphasia. Neurology 76, 1804-1810.
58. Piguet O, Hornberger M, Mioshi E, Hodges JR (2011) Behavioural-variant frontotemporal dementia: Diagnosis, clinical staging, and management. Lancet Neurol 10, 162-172.
59. de Souza LC, Corlier F, Habert MO, Uspenskaya O, Maroy R, Lamari F, Chupin M, Lehericy S, Colliot O, Hahn-Barma V, Samri D, Dubois B, Bottlaender M, Sarazin M (2011) Similar amyloid-beta burden in posterior cortical atrophy and Alzheimer's disease. Brain 134, 2036-2043.
60. Saint-Aubert L, Payoux P, Hannequin D, Barbeau EJ, Campion D, Delisle MB, Tafani M, Viallard G, Peran P, Puel M, Chollet F, Demonet JF, Pariente J (2012) MR, (18)F-FDG, and (18)F-AV45 PET correlate with AD PSEN1 original phenotype. Alzheimer Dis Assoc Disord 27, 91-94.
61. Ng SY, Villemagne VL, Masters CL, Rowe CC (2007) Evaluating atypical dementia syndromes using positron emission tomography with carbon 11 labeled Pittsburgh Compound B. Arch Neurol 64, 1140-1144.
62. Le Ber I, Camuzat A, Guillot-Noel L, Hannequin D, Lacomblez L, Golfier V, Puel M, Martinaud O, Deramecourt V, Rivaud-Pechoux S, Millecamps S,Vercelletto M, Couratier P, Sellal F, Pasquier F, Salachas F, Thomas-Anterion C, Didic M,Pariente J, Seilhean D, RubergM,Wargon I, Blanc F,Camu W, MichelBF, Berger E, Sauvee M, Thauvin-Robinet C, Mondon K, Tournier-Lasserve E, Goizet C, Fleury M, Viennet G, Verpillat P, Meininger V, Duyckaerts C, Dubois B, Brice A (2012) C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: A flow-chart for genetic testing. J Alzheimers Dis 34, 485-499.