Cerebellar integrity in the amyotrophic lateral sclerosis - Frontotemporal dementia continuum

PLoS ONE

Volumn 9, Issue 8, 2014, Pages

  Tan, Rachel H ^a,b   Devenney, Emma ^a,b   Dobson Stone, Carol ^a,b   Kwok, John B ^a,b   Hodges, John R ^a,b,c   Kiernan, Matthew C ^a,d   Halliday, Glenda M ^a,b   Hornberger, Michael ^a,c,e  

^a NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c ARC CENTRE OF EXCELLENCE IN COGNITION AND ITS DISORDERS   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ANALYSIS OF VARIANCE; ARTICLE; C9ORF72 GENE; CEREBELLUM; COGNITION; CONTROLLED STUDY; DISEASE DURATION; ELECTROMYOGRAPHY; EMPATHY; FEMALE; FRONTAL VARIANT FRONTOTEMPORAL DEMENTIA; FUNCTIONAL ASSESSMENT; GENE; GENETIC ASSOCIATION; GRAY MATTER; HUMAN; IMAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; NEUROIMAGING; PHENOTYPE; POLYMERASE CHAIN REACTION; SYMPTOMATOLOGY; VOXEL BASED MORPHOMETRY; AGED; FRONTOTEMPORAL DEMENTIA; GENETICS; PATHOLOGY; PATHOPHYSIOLOGY;

C9ORF72 PROTEIN, HUMAN; PROTEIN;

AGED; AMYOTROPHIC LATERAL SCLEROSIS; CEREBELLUM; FEMALE; FRONTOTEMPORAL DEMENTIA; HUMANS; MALE; MIDDLE AGED; PROTEINS;

EID: 84930233526     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0105632     Document Type: Article

References (73)

1. Hardiman O, van den Berg LH, Kiernan MC (2011) Clinical diagnosis and management of amyotrophic lateral sclerosis. Nature Reviews Neurology 7: 639-649.
2. Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, et al. (2011) Amyotrophic lateral sclerosis. Lancet 377: 942-955.
3. Turner MR, Hardiman O, Benatar M, Brooks BR, Chio A, et al. (2013) Controversies and priorities in amyotrophic lateral sclerosis. Lancet Neurol 12: 310-322.
4. Bak TH, Hodges JR (2001) Motor neurone disease, dementia and aphasia: coincidence, co-occurrence or continuum? J Neurol 248: 260-270. (Pubitemid 32323863)
5. Lillo P, Garcin B, Hornberger M, Bak TH, Hodges JR (2010) Neurobehavioral features in frontotemporal dementia with amyotrophic lateral sclerosis. Arch Neurol 67: 826-830.
6. Lomen-Hoerth C, Anderson T, Miller B (2002) The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 59: 1077-1079.
7. Burrell JR, Kiernan MC, Vucic S, Hodges JR (2011) Motor neuron dysfunction in frontotemporal dementia. Brain 134: 2582-2594.
8. Phukan J, Elamin M, Bede P, Jordan N, Gallagher L, et al. (2012) The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study. J Neurol Neurosurg Psychiatry 83: 102-108.
9. Strong MJ, Lomen-Hoerth C, Caselli RJ, Bigio EH, Yang W (2003) Cognitive impairment, frontotemporal dementia, and the motor neuron diseases. Ann Neurol 54 Suppl 5: S20-23. (Pubitemid 36760149)
10. Ringholz GM, Appel SH, Bradshaw M, Cooke NA, Mosnik DM, et al. (2005) Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology 65: 586-590. (Pubitemid 41170719)
11. Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, et al. (2011) Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 134: 2456-2477.
12. Takada LT, Sha SJ (2012) Neuropsychiatric features of C9orf72-associated behavioral variant frontotemporal dementia and frontotemporal dementia with motor neuron disease. Alzheimers Res Ther 4: 38.
13. Snowden JS, Rollinson S, Thompson JC, Harris JM, Stopford CL, et al. (2012) Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 135: 693-708.
14. Lillo P, Mioshi E, Burrell JR, Kiernan MC, Hodges JR, et al. (2012) Grey and white matter changes across the amyotrophic lateral sclerosis-frontotemporal dementia continuum. PLoS One 7: e43993.
15. Rosen HJ, Gorno-Tempini ML, Goldman WP, Perry RJ, Schuff N, et al. (2002) Patterns of brain atrophy in frontotemporal dementia and semantic dementia. Neurology 58: 198-208. (Pubitemid 34084208)
16. Garibotto V, Borroni B, Agosti C, Premi E, Alberici A, et al. (2011) Subcortical and deep cortical atrophy in Frontotemporal Lobar Degeneration. Neurobiol Aging 32: 875-884.
17. Seok Yi D, Bertoux M, E M, Hodges J, Hornberger M (2013) Fronto-striatal atrophy correlates of neuropsychiatric dysfunction in frontotemporal dementia (FTD) and Alzheimer's disease (AD). Dement Neuropsychol 7: 75-82.
18. Schmahmann JD, Caplan D (2006) Cognition, emotion and the cerebellum. Brain 129: 290-292.
19. Stoodley CJ, Schmahmann JD (2009) Functional topography in the human cerebellum: a meta-analysis of neuroimaging studies. Neuroimage 44: 489-501.
20. Middleton FA, Strick PL (2000) Basal ganglia and cerebellar loops: motor and cognitive circuits. Brain Res Brain Res Rev 31: 236-250. (Pubitemid 30136179)
21. O'Reilly JX, Beckmann CF, Tomassini V, Ramnani N, Johansen-Berg H (2010) Distinct and overlapping functional zones in the cerebellum defined by resting state functional connectivity. Cereb Cortex 20: 953-965.
22. Krienen FM, Buckner RL (2009) Segregated fronto-cerebellar circuits revealed by intrinsic functional connectivity. Cereb Cortex 19: 2485-2497.
23. Stoodley CJ, Schmahmann JD (2010) Evidence for topographic organization in the cerebellum of motor control versus cognitive and affective processing. Cortex 46: 831-844.
24. Stoodley CJ, Valera EM, Schmahmann JD (2012) Functional topography of the cerebellum for motor and cognitive tasks: an fMRI study. Neuroimage 59: 1560-1570.
25. Seeley WW, Crawford R, Rascovsky K, Kramer JH, Weiner M, et al. (2008) Frontal paralimbic network atrophy in very mild behavioral variant frontotemporal dementia. Arch Neurol 65: 249-255. (Pubitemid 351240789)
26. Thivard L, Pradat PF, Lehericy S, Lacomblez L, Dormont D, et al. (2007) Diffusion tensor imaging and voxel based morphometry study in amyotrophic lateral sclerosis: relationships with motor disability. J Neurol Neurosurg Psychiatry 78: 889-892. (Pubitemid 47204601)
27. Habas C, Kamdar N, Nguyen D, Prater K, Beckmann CF, et al. (2009) Distinct cerebellar contributions to intrinsic connectivity networks. J Neurosci 29: 8586-8594.
28. Clark CM, Forman MS (2006) Frontotemporal lobar degeneration with motor neuron disease: a clinical and pathological spectrum. Arch Neurol 63: 489-490.
29. Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, et al. (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314: 130-133. (Pubitemid 44547757)
30. Brooks BR, Miller RG, Swash M, Munsat TL (2000) El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1: 293-299.
31. Dobson-Stone C, Hallupp M, Bartley L, Shepherd CE, Halliday GM, et al. (2012) C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology 79: 995-1001.
32. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, et al. (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72: 257-268.
33. Mioshi E, Dawson K, Mitchell J, Arnold R, Hodges JR (2006) The Addenbrooke's Cognitive Examination Revised (ACE-R): a brief cognitive test battery for dementia screening. Int J Geriatr Psychiatry 21: 1078-1085. (Pubitemid 44762726)
34. Begeti F, Tan AY, Cummins GA, Collins LM, Guzman NV, et al. (2013) The Addenbrooke's Cognitive Examination-Revised accurately detects cognitive decline in Huntington's disease. J Neurol 260: 2777-2785.
35. Yoshida H, Terada S, Honda H, Ata T, Takeda N, et al. (2011) Validation of Addenbrooke's cognitive examination for detecting early dementia in a Japanese population. Psychiatry Res 185: 211-214.
36. Terpening Z, Cordato NJ, Hepner IJ, Lucas SK, Lindley RI (2011) Utility of the Addenbrooke's Cognitive Examination-Revised for the diagnosis of dementia syndromes. Australas J Ageing 30: 113-118.
37. McColgan P, Evans JR, Breen DP, Mason SL, Barker RA, et al. (2012) Addenbrooke's Cognitive Examination-Revised for mild cognitive impairment in Parkinson's disease. Mov Disord 27: 1173-1177.
38. Wedderburn C, Wear H, Brown J, Mason SJ, Barker RA, et al. (2008) The utility of the Cambridge Behavioural Inventory in neurodegenerative disease. J Neurol Neurosurg Psychiatry 79: 500-503. (Pubitemid 351571865)
39. Cedarbaum JM, Stambler N, Malta E, Fuller C, Hilt D, et al. (1999) The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS Study Group (Phase III). J Neurol Sci 169: 13-21. (Pubitemid 29502501)
40. Smith SM (2002) Fast robust automated brain extraction. Hum Brain Mapp 17: 143-155.
41. Zhang Y, Brady M, Smith S (2001) Segmentation of brain MR images through a hidden Markov random field model and the expectation-maximization algorithm. IEEE Trans Med Imaging 20: 45-57. (Pubitemid 32293419)
42. Andersson JLR, Jenkinson M, Smith S (2007a) Non-linear optimisation.
43. Smith SM, Nichols TE (2009) Threshold-free cluster enhancement: addressing problems of smoothing, threshold dependence and localisation in cluster inference. Neuroimage 44: 83-98.
44. Nichols TE, Holmes AP (2002) Nonparametric permutation tests for functional neuroimaging: a primer with examples. Hum Brain Mapp 15: 1-25. (Pubitemid 34020610)
45. Chang JL, Lomen-Hoerth C, Murphy J, Henry RG, Kramer JH, et al. (2005) A voxel-based morphometry study of patterns of brain atrophy in ALS and ALS/FTLD. Neurology 65: 75-80. (Pubitemid 40967780)
46. Kanda T, Ishii K, Uemura T, Miyamoto N, Yoshikawa T, et al. (2008) Comparison of grey matter and metabolic reductions in frontotemporal dementia using FDG-PET and voxel-based morphometric MR studies. Eur J Nucl Med Mol Imaging 35: 2227-2234.
47. Mezzapesa DM, Ceccarelli A, Dicuonzo F, Carella A, De Caro MF, et al. (2007) Whole-brain and regional brain atrophy in amyotrophic lateral sclerosis. AJNR Am J Neuroradiol 28: 255-259. (Pubitemid 46281040)
48. Senda J, Kato S, Kaga T, Ito M, Atsuta N, et al. (2011) Progressive and widespread brain damage in ALS: MRI voxel-based morphometry and diffusion tensor imaging study. Amyotroph Lateral Scler 12: 59-69.
49. Whitwell JL, Jack CR, Jr., Senjem ML, Josephs KA (2006) Patterns of atrophy in pathologically confirmed FTLD with and without motor neuron degeneration. Neurology 66: 102-104. (Pubitemid 43739601)
50. Whitwell JL, Przybelski SA, Weigand SD, Ivnik RJ, Vemuri P, et al. (2009) Distinct anatomical subtypes of the behavioural variant of frontotemporal dementia: a cluster analysis study. Brain 132: 2932-2946.
51. Kassubek J, Unrath A, Huppertz HJ, Lule D, Ethofer T, et al. (2005) Global brain atrophy and corticospinal tract alterations in ALS, as investigated by voxel-based morphometry of 3-D MRI. Amyotroph Lateral Scler Other Motor Neuron Disord 6: 213-220.
52. Josephs KA, Whitwell JL, Jack CR, Parisi JE, Dickson DW (2006) Frontotemporal lobar degeneration without lobar atrophy. Arch Neurol 63: 1632-1638. (Pubitemid 44748808)
53. Mioshi E, Lillo P, Yew B, Hsieh S, Savage S, et al. (2013) Cortical atrophy in ALS is critically associated with neuropsychiatric and cognitive changes. Neurology 80: 1117-1123.
54. Rosen HJ, Allison SC, Schauer GF, Gorno-Tempini ML, Weiner MW, et al. (2005) Neuroanatomical correlates of behavioural disorders in dementia. Brain 128: 2612-2625. (Pubitemid 41552946)
55. Chen Z, Ma L (2010) Grey matter volume changes over the whole brain in amyotrophic lateral sclerosis: A voxel-wise meta-analysis of voxel based morphometry studies. Amyotroph Lateral Scler 11: 549-554.
56. Kelly RM, Strick PL (2003) Cerebellar loops with motor cortex and prefrontal cortex of a nonhuman primate. J Neurosci 23: 8432-8444. (Pubitemid 37129661)
57. Alexander MP, Gillingham S, Schweizer T, Stuss DT (2012) Cognitive impairments due to focal cerebellar injuries in adults. Cortex 48: 980-990.
58. Balsters JH, Ramnani N (2011) Cerebellar plasticity and the automation of first-order rules. J Neurosci 31: 2305-2312.
59. Giordano A, Tessitore A, Corbo D, Cirillo G, de Micco R, et al. (2013) Clinical and cognitive correlations of regional gray matter atrophy in progressive supranuclear palsy. Parkinsonism Relat Disord 19: 590-594.
60. Stoodley CJ (2012) The cerebellum and cognition: evidence from functional imaging studies. Cerebellum 11: 352-365.
61. O'Halloran CJ, Kinsella GJ, Storey E (2012) The cerebellum and neuropsychological functioning: a critical review. J Clin Exp Neuropsychol 34: 35-56.
62. Villanueva R (2012) The cerebellum and neuropsychiatric disorders. Psychiatry Res 198: 527-532.
63. Hornberger M, Yew B, Gilardoni S, Mioshi E, Gleichgerrcht E, et al. (2012) Ventromedial-frontopolar prefrontal cortex atrophy correlates with insight loss in frontotemporal dementia and Alzheimer's disease. Hum Brain Mapp.
64. Irwin DJ, McMillan CT, Brettschneider J, Libon DJ, Powers J, et al. (2013) Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 84: 163-169.
65. Mahoney CJ, Downey LE, Ridgway GR, Beck J, Clegg S, et al. (2012) Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions. Alzheimers Res Ther 4: 41.
66. Whitwell JL, Weigand SD, Boeve BF, Senjem ML, Gunter JL, et al. (2012) Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain 135: 794-806.
67. Irish M, Devenney E, Wong S, Dobson-Stone C, Kwok J, et al. (2013) Neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansions Neuroimage 2: 836-843.
68. Mottolese C, Richard N, Harquel S, Szathmari A, Sirigu A, et al. (2013) Mapping motor representations in the human cerebellum. Brain 136: 330-342.
69. Sbardella E, Petsas N, Tona F, Prosperini L, Raz E, et al. (2013) Assessing the Correlation between Grey and White Matter Damage with Motor and Cognitive Impairment in Multiple Sclerosis Patients. PLoS One 8: e63250.
70. Schmahmann JD, Macmore J, Vangel M (2009) Cerebellar stroke without motor deficit: clinical evidence for motor and non-motor domains within the human cerebellum. Neuroscience 162: 852-861.
71. Baillieux H, De Smet HJ, Dobbeleir A, Paquier PF, De Deyn PP, et al. (2010) Cognitive and affective disturbances following focal cerebellar damage in adults: a neuropsychological and SPECT study. Cortex 46: 869-879.
72. Lauterbach EC, Harris JB, Bina WF, 3rd (2010) Mood and neurobehavioral correlates of cerebellar lesions. Cogn Behav Neurol 23: 63-73.
73. Mioshi E, Lillo P, Yew B, Hsieh S, Savage S, et al. (2013) Cortical atrophy in ALS is critically associated with neuropsychiatric and cognitive changes. Neurology 19: 1117-1123.