Clinicopathological study of patients with C9ORF72-associated frontotemporal dementia presenting with delusions

Journal of Geriatric Psychiatry and Neurology

Volumn 28, Issue 2, 2015, Pages 99-107

  Shinagawa, Shunichiro ^a,b   Naasan, Georges ^a   Karydas, Anna M ^a   Coppola, Giovanni ^c,d   Pribadi, Mochtar ^c,d   Seeley, William W ^a   Trojanowski, John Q ^e   Miller, Bruce L ^a   Grinberg, Lea T ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

C9ORF72; delusion; frontotemporal dementia; neurodegeneration; neuroimaging; neuropathology

Indexed keywords

ALPHA SYNUCLEIN; DONEPEZIL; FEXOFENADINE; FLUOXETINE; QUETIAPINE; TAR DNA BINDING PROTEIN; TRAZODONE; VALPROATE SEMISODIUM; DNA BINDING PROTEIN; TAU PROTEIN;

ADULT; AGED; ANXIETY DISORDER; ARTICLE; AUDITORY HALLUCINATION; BORDERLINE HYPERTENSION; BRADYKINESIA; BRAIN ATROPHY; BRAIN WEIGHT; C9ORF72 GENE; CAUSE OF DEATH; COGNITIVE DEFECT; COMPARATIVE STUDY; CONTROLLED STUDY; DELUSION; DISEASE COURSE; DISEASE SEVERITY; DYSPHAGIA; EMOTIONAL DISORDER; EPISODIC MEMORY; EXECUTIVE FUNCTION; FAMILY HISTORY; FASCICULATION; FRONTOTEMPORAL DEMENTIA; FUNCTIONAL NEUROIMAGING; GAIT DISORDER; GENE; GENE MUTATION; GENETIC ASSOCIATION; GRANDIOSE DELUSION; HUMAN; HUMAN TISSUE; HYPERCHOLESTEROLEMIA; IMPULSIVENESS; INCREASED APPETITE; JEALOUS DELUSION; MALE; MEDICAL HISTORY; MEMORY DISORDER; MIDDLE AGED; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NEUROPSYCHOLOGICAL TEST; ONSET AGE; PARANOIA; PARKINSONISM; PERSECUTORY DELUSION; PERSEVERATION; PRECUNEUS; PRIORITY JOURNAL; RESPONSE TIME; RESTLESSNESS; SPEECH DISORDER; TDP 43 PROTEINOPATHY; TREMOR; VISUAL MEMORY; VOXEL BASED MORPHOMETRY; WORK DISABILITY; WORKING MEMORY; ATROPHY; AUTOPSY; CASE REPORT; COMPLICATION; FRONTOTEMPORAL LOBAR DEGENERATION; GENETICS; HETEROZYGOTE; METABOLISM; MUTATION; OPEN READING FRAME; PARIETAL LOBE; PARKINSONIAN DISORDERS; PATHOLOGY; PSYCHOLOGY;

ADULT; AGED; ALPHA-SYNUCLEIN; ATROPHY; AUTOPSY; DELUSIONS; DNA-BINDING PROTEINS; FRONTOTEMPORAL DEMENTIA; FRONTOTEMPORAL LOBAR DEGENERATION; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; OPEN READING FRAMES; PARIETAL LOBE; PARKINSONIAN DISORDERS; TAU PROTEINS;

EID: 84930592489     PISSN: 08919887     EISSN: 15525708     Source Type: Journal    
DOI: 10.1177/0891988714554710     Document Type: Article

References (61)

1. Ratnavalli E, Brayne C, Dawson K, Hodges JR. The prevalence of frontotemporal dementia. Neurology. 2002 ; 58 (11). 1615-1621
2. Rascovsky K, Hodges JR, Knopman DS, et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain. 2011 ; 134 (pt 9). 2456-2477
3. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011 ; 72 (2). 245-256
4. Renton A, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 ; 72 (2). 257-268
5. Snowden J, Rollinson S, Thompson JC, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain. 2012 ; 135 (3). 693-708
6. Sha SJ, Takada LT, Rankin KP, et al. Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features. Neurology. 2012 ; 79 (10). 1002-1011
7. Mahoney CJ, Beck J, Rohrer JD, et al. Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain. 2012 ; 135 (pt 3). 736-750
8. Boeve BF, Boylan KB, Graff-Radford NR, et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain. 2012 ; 135 (pt 3). 765-783
9. Bhat R, Rockwood K. Psychiatric complications of dementia. Can J Psychiatry. 2011 ; 56 (7). 398-407
10. Pankow A, Knobel A, Voss M, Heinz A. Neurobiological correlates of delusion: beyond the salience attribution hypothesis. Neuropsychobiology. 2012 ; 66 (1). 33-43
11. Heinz A, Schlagenhauf F. Dopaminergic dysfunction in schizophrenia: salience attribution revisited. Schizophr Bull. 2010 ; 36 (3). 472-485
12. Lakhan SE, Vieira KF. Schizophrenia pathophysiology: are we any closer to a complete model?. Ann Gen Psychiatry. 2009 ; 8 (1). 12
13. Bathgate D, Snowden J, Varma A, Blackshaw A, Neary D. Behaviour in frontotemporal dementia, Alzheimer's disease and vascular dementia. Acta Neurol Scand. 2001 ; 103 (6). 367-378
14. Mendez MF, Lauterbach ECE, Sampson SMS. An evidence-based review of the psychopathology of frontotemporal dementia: a report of the ANPA Committee on Research. J Neuropsychiatry Clin Neurosci. 2008 ; 20 (2). 130-149
15. Mendez MF, Shapira J, Woods RJ, Licht EA, Saul RE. Psychotic symptoms in frontotemporal dementia: prevalence and review. Dement Geriatr Cogn Disord. 2008 ; 25 (3). 206-211
16. Mourik JC, Rosso SM, Niermeijer MF, Duivenvoorden HJ, van Swieten JC, Tibben A. Frontotemporal dementia: behavioral symptoms and caregiver distress. Dement Geriatr Cogn Disord. 2004 ; 18 (3-4). 299-306
17. Mori K, Lammich S, Mackenzie IR, et al. hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol. 2013 ; 125 (3). 413-423
18. Diagnostic and Statistical Manual of Mental Disorders. 4 th ed. Arlington, VA: American Psychiatric Pub; 2000. Arlington, VA: American Psychiatric Pub ; 2000 :
19. Kramer JH, Jurik JJ, Sha SJ, et al. Distinctive neuropsychological patterns in frontotemporal dementia, semantic dementia, and Alzheimer disease. Cogn Behav Neurol. 2003 ; 16 (4). 211-218
20. Forman MS, Farmer J, Johnson JK, et al. Frontotemporal dementia: clinicopathological correlations. Ann Neurol. 2006 ; 59 (6). 952-962
21. Mirra SS, Heyman A, McKeel D, et al. The Consortium to Establish a Registry for Alzheimers Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimers disease. Neurology. 1991 ; 41 (4). 479-486
22. Mackenzie IR, Neumann M, Baborie A, et al. A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol. 2011 ; 122 (1). 111-113
23. Holt AEM, Albert ML. Cognitive neuroscience of delusions in aging. Neuropsychiatr Dis Treat. 2006 ; 2 (2). 181-189
24. Braak H, Del Tredici K, Rüb U, de Vos RAI, Jansen Steur ENH, Braak E. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging. 2003 ; 24 (2). 197-211
25. Dobson-Stone C, Hallupp M, Bartley L, et al. C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology. 2012 ; 79 (10). 995-1001
26. Whitwell JL, Weigand SD, Boeve BF, et al. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain. 2012 ; 135 (3). 794-806
27. Takada LT, Sha SJ. Neuropsychiatric features of C9orf72-associated behavioral variant frontotemporal dementia and frontotemporal dementia with motor neuron disease. Alzheimer's Res Ther. 2012 ; 4 (5). 38-38
28. Velakoulis D, Walterfang M, Mocellin R, Pantelis C, McLean C. Frontotemporal dementia presenting as schizophrenia-like psychosis in young people: clinicopathological series and review of cases. Br J Psychiatry. 2009 ; 194 (4). 298-305
29. Omar R, Sampson EL, Loy CT, et al. Delusions in frontotemporal lobar degeneration. J Neurol. 2009 ; 256 (4). 600-607
30. Loy CT, Kril J, Trollor JN, et al. The case of a 48 year-old woman with bizarre and complex delusions. Nat Rev Neurol. 2010 ; 6 (3). 175-179
31. Duggal HS, Singh I. Frontotemporal dementia presenting with psychotic symptoms. J Neuropsychiatry Clin Neurosci. 2009 ; 21 (1). 103-104
32. Mendez MF, Ramírez-Bermúdez J. Cotard syndrome in semantic dementia. Psychosomatics. 2011 ; 52 (6). 571-574
33. Ropacki SA, Jeste DV. Epidemiology of and risk factors for psychosis of Alzheimer's disease: a review of 55 studies published from 1990 to 2003. Am J Psychiatry. 2005 ; 162 (11). 2022-2030
34. Reeves SJ, Gould RL, Powell JF, Howard RJ. Origins of delusions in Alzheimer's disease. Neurosci Biobehav Rev. 2012 ; 36 (10). 2274-2287
35. CasanovaMFStarksteinSEJellingerKA. Clinicopathological correlates of behavioral and psychological symptoms of dementia. Acta Neuropathologica. 2011;122(2):117-135. http://link.springer.com/10.1007/s00401-011-0821-3.
36. Nagahama Y, Okina T, Suzuki N, Matsuda M. Neural correlates of psychotic symptoms in dementia with Lewy bodies. Brain. 2010 ; 133 (pt 2). 557-567
37. Guillin O, Abi-Dargham A, Laruelle M. Neurobiology of dopamine in schizophrenia. Int Rev Neurobiol. 2007 ; 78: 1-39
38. Kapur S, Agid O, Mizrahi R, Li M. How antipsychotics work-from receptors to reality. NeuroRx. 2006 ; 3 (1). 10-21
39. Corlett PR, Aitken MRF, Dickinson A, et al. Prediction error during retrospective revaluation of causal associations in humans: fMRI evidence in favor of an associative model of learning. Neuron. 2004 ; 44 (5). 877-888
40. Turner DC, Aitken MRF, Shanks DR, et al. The role of the lateral frontal cortex in causal associative learning: exploring preventative and super-learning. Cereb Cortex. 2004 ; 14 (8). 872-880
41. Lagioia A, Eliez S, Schneider M, Simons JS, Van der Linden M, Debbané M. Neural correlates of reality monitoring during adolescence. NeuroImage. 2011 ; 55 (3). 1393-1400
42. Buchy L, Ad-Dab'bagh Y, Lepage C, et al. Symptom attribution in first episode psychosis: a cortical thickness study. Psychiatry Res. 2012 ; 203 (1). 6-13
43. Vukadinovic Z, Rosenzweig I. Abnormalities in thalamic neurophysiology in schizophrenia: could psychosis be a result of potassium channel dysfunction?. Neurosci Biobehav Rev. 2012 ; 36 (2). 960-968
44. Maloku E, Covelo IR, Hanbauer I, et al. Lower number of cerebellar Purkinje neurons in psychosis is associated with reduced reelin expression. Proc Natl Acad Sci USA. 2010 ; 107 (9). 4407-4411
45. Elliott B, Joyce E, Shorvon S. Delusions, illusions and hallucinations in epilepsy: 2. Complex phenomena and psychosis. Epilep Res. 2009 ; 85 (2-3). 172-186
46. Nadkarni S, Arnedo V, Devinsky O. Psychosis in epilepsy patients. Epilepsia. 2007 ; 48: 17-19
47. Mocellin RR, Walterfang M, Velakoulis D. Hashimoto's encephalopathy: epidemiology, pathogenesis and management. CNS Drugs. 2007 ; 21 (10). 799-811
48. Jellinger KA. Cerebral correlates of psychotic syndromes in neurodegenerative diseases. J Cell Mol Med. 2012 ; 16 (5). 995-1012
49. Rosenblatt A, Leroi I. Neuropsychiatry of Huntington's disease and other basal ganglia disorders. Psychosomatics. 2000 ; 41 (1). 24-30
50. Lauterbach EC, Cummings JL, Duffy JR, et al. Neuropsychiatric correlates and treatment of lenticulostriatal diseases: a review of the literature and overview of research opportunities in Huntington's, Wilson's, and Fahr's diseases. A report of the ANPA Committee on Research. American Neuropsychiatric Association. J Neuropsychiatry Clin Neurosci. 1998 ; 10 (3). 249-266
51. Lundstrom BN, Ingvar M, Petersson KM. The role of precuneus and left inferior frontal cortex during source memory episodic retrieval. NeuroImage. 2005 ; 27 (4). 824-834
52. Fukuhara R, Ikeda M, Nebu AA, et al. Alteration of rCBF in Alzheimer's disease patients with delusions of theft. Neuroreport. 2001 ; 12 (11). 2473-2476
53. Nomura KK, Kazui H, Wada TT, et al. Classification of delusions in Alzheimer's disease and their neural correlates. Psychogeriatrics. 2012 ; 12 (3). 200-210
54. Jedidi H, Daury N, Capa R, et al. Brain metabolic dysfunction in capgras delusion during Alzheimer's disease: a positron emission tomography study [published online June 30, 2013]. Am J Alzheimers Dis Other Dement. 2013 ;:
55. Downey LE, Fletcher PD, Golden HL, et al. Altered body schema processing in frontotemporal dementia with C9ORF72 mutations. J Neurol Neurosurg Psychiatry. 2014 ; 85 (9). 1016-1023
56. Asaoka T, Tsuchiya K, Fujishiro H, et al. Argyrophilic grain disease with delusions and hallucinations: a pathological study. Psychogeriatrics. 2010 ; 10 (2). 69-76
57. Togo T, Isojima D, Akatsu H, et al. Clinical features of argyrophilic grain disease: a retrospective survey of cases with neuropsychiatric symptoms. Am J Geriatr Psychiatry. 2005 ; 13 (12). 1083-1091
58. Cooper-Knock J, Frolov A, Highley JR, et al. C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study. Neurology. 2013 ; 81 (9). 808-811
59. Harms MB, Neumann D, Benitez BA, et al. Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiol Aging. 2013 1519 ; 34 (5). e1 - e2
60. Passant U, Elfgren C, Englund E, Gustafson L. Psychiatric symptoms and their psychosocial consequences in frontotemporal dementia. Alzheimer Dis Assoc Disord. 2005 ; 19: S15 - S18
61. Woolley JD, Khan BK, Murthy NK, Miller BL, Rankin KP. The diagnostic challenge of psychiatric symptoms in neurodegenerative disease. J Clin Psychiatry. 2011 ; 72 (2). 126-133