Does variation in neurodegenerative disease susceptibility and phenotype reflect cerebral differences at the network level

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Volumn 14, Issue 7-8, 2013, Pages 487-493

  Eisen, Andrew ^a   Turner, Martin R ^b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Connectivity; Evolution; Incidence; Neural circuits; Neurodegeneration

Indexed keywords

ALZHEIMER DISEASE; AMYOTROPHIC LATERAL SCLEROSIS; BRAIN FUNCTION; COGNITION; CORPUS CALLOSUM; DEGENERATIVE DISEASE; DISEASE PREDISPOSITION; EMBRYO DEVELOPMENT; EXECUTIVE FUNCTION; GENE EXPRESSION; GENE MUTATION; HUMAN; LINGUISTICS; MEMORY; MOTOR PERFORMANCE; NEOCORTEX; NERVE CELL NETWORK; NONHUMAN; PARKINSON DISEASE; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

ANIMALS; CEREBRUM; DISEASE SUSCEPTIBILITY; HUMANS; NERVE NET; NEURODEGENERATIVE DISEASES; PHENOTYPE;

EID: 84887471723     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2013.812660     Document Type: Review

References (82)

1. Recollections of my life'. In: C raigie EH, Cowan WM, Cano J, editors. Cambridge MA: MIT Press; 1937.
2. Francis PT. G lutamatergic systems in Alzheimer's disease. International Journal of Geriatric Psychiatry. 2003; 18(Suppl 1):S15-21.
3. Wang X, Michaelis ML, Michaelis EK. F unctional genomics of brain aging and Alzheimer's disease: focus on selective neuronal vulnerability. Current Genomics. 2010; 11:618-33.
4. Wang X, Michaelis EK. S elective neuronal vulnerability to oxidative stress in the brain. Frontiers in Aging Neuroscience. 2010; 2:12.
5. Bento-Abreu A, van Damme P, van den Bosch L, Robberecht W. The neurobiology of amyotrophic lateral sclerosis. The European Journal of Neuroscience. 2010; 31:2247-65.
6. Dewil M, van den Bosch L, Robberecht W. M icroglia in amyotrophic lateral sclerosis11. Acta Neurologica Belgica. 2007; 107:63-70.
7. Krstic D, Knuesel I. D eciphering the mechanism underlying late-onset Alzheimer's disease. Nature Reviews Neurology. 2013; 9:25-34.
8. Aguzzi A, Barres B A, Bennett M L. M icroglia: scapegoat, saboteur, or something else Science. 2013; 339:156-61.
9. Kiernan MC, Petri S. H yperexcitability and amyotrophic lateral sclerosis. Neurology. 2012; 78:1544-5.
10. Turner M R, Kiernan M C. D oes interneuronal dysfunction contribute to neurodegeneration in amyotrophic lateral sclerosis Amyotroph Lateral Scler. 2012; 13:245-50.
11. Bohnen NI, Albin RL. The cholinergic system and Parkinson's disease. Behavioural Brain Research. 2011; 221:564-73.
12. Gittis AH, Nelson AB, Thwin MT, Palop JJ, Kreitzer AC. Distinct roles of GABAergic interneurons in the regulation of striatal output pathways. The Journal of Neuroscience: the offi cial journal of the Society for Neuroscience. 2010; 30:2223-34.
13. Bowen D M, Procter AW, Mann D M, Snowden J S, Esiri MM, Neary D, et al. Imbalance of a serotonergic system in frontotemporal dementia: implication for pharmacotherapy. Psychopharmacology (Berl). 2008; 196:603-10.
14. Lanctot KL, Herrmann N, Ganjavi H, Black SE, Rusjan PM, Houle S, et al. Serotonin-1A receptors in frontotemporal dementia compared with controls. Psychiatry Res. 2007; 156:247-50.
15. Turner MR, Rabiner EA, Hammers A, Al-Chalabi A, Grasby PM, Shaw CE, et al. [11C]-WAY100635 PET demonstrates marked 5-HT1A receptor changes in sporadic ALS. Brain. 2005; 128:896-905.
16. Doder M, Rabiner E A, Turjanski N, Lees AJ, Brooks D J, Study CWP. Tremor in Parkinson's disease and serotonergic dysfunction: an 11C-WAY 100635 PET study. Neurology. 2003; 60:601-5.
17. Neumann M, Sampathu DM, Kwong LK, Truax A C, Micsenyi MC, Chou TT, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006; 314:130-3.
18. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALSFTD. Neuron. 2011; 72:257-68.
19. DeJesus-Hernandez M, Mackenzie I R, Boeve B F, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9orf72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011; 72:245-56.
20. Majounie E, Renton AE, Mok K, Dopper E G, Waite A, Rollinson S, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurology. 2012; 11:323-30.
21. Snowden J S, Rollinson S, Thompson J C, Harris J M, Stopford CL, Richardson AM, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9orf72 mutations. Brain. 2012; 135:693-708.
22. Phukan J, Elamin M, Bede P, Jordan N, Gallagher L, Byrne S, et al. The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population based study. J Neurol Neurosurg Psychiatry. 2012; 83:102-8.
23. Hudson A J. A myotrophic lateral sclerosis and its association with dementia, Parkinsonism and other neurological disorders: a review. Brain. 1981; 104:217-47.
24. Perl D P, Olanow C W, Calne D. A lzheimer's disease and Parkinson's disease: distinct entities or extremes of a spectrum of neurodegeneration Annals of Neurology. 1998; 44(3 Suppl 1):S19-31.
25. Eisen A, Calne D. A myotrophic lateral sclerosis, Parkinson's disease and Alzheimer's disease: phylogenetic disorders of the human neocortex sharing many characteristics. The Canadian Journal of Neurological Sciences. 1992; 19(Suppl):117-23.
26. Schmidt M L, Lee V M, Saido T, Perl D, Schuck T, Iwatsubo T, et al. Amyloid plaques in Guam amyotrophic lateral sclerosis/Parkinsonism-dementia complex contain species of A beta similar to those found in the amyloid plaques of Alzheimer's disease and pathological aging. Acta Neuropathologica. 1998; 95:117-22.
27. Drachman DA. D o we have brain to spare Neurology. 2005; 64:2004-5.
28. Smit DJ, Boersma M, Schnack HG, Micheloyannis S, Boomsma DI, Hulshoff Pol HE, et al. The brain matures with stronger functional connectivity and decreased randomness of its network. PloS One. 2012; 7:e36896.
29. Gervan P, Berencsi A, Kovacs I. V ision fi rst The development of primary visual cortical networks is more rapid than the development of primary motor networks in humans. PloS One. 2011; 6:e25572.
30. Huffman K. The developing, aging neocortex: how genetics and epigenetics infl uence early developmental patterning and age-related change. Frontiers in Genetics. 2012; 3:212.
31. Rakic P, Ayoub AE, Breunig JJ, Dominguez MH. D ecision by division: making cortical maps. Trends in Neurosciences. 2009; 32:291-301.
32. Rubenstein J L, Anderson S, Shi L, Miyashita-Lin E, Bulfone A, Hevner R. Genetic control of cortical regionalization and connectivity. Cereb Cortex. 1999; 9:524-32.
33. Rubenstein J L, Rakic P. G enetic control of cortical development. Cereb Cortex. 1999; 9:521-3.
34. Zielinski BA, Gennatas ED, Zhou J, Seeley W W. N etworklevel structural covariance in the developing brain. Proceedings of the National Academy of Sciences of the United States of America. 2010; 107:18191-6.
35. Xu G, Broadbelt KG, Haynes RL, Folkerth RD, Borenstein NS, Belliveau RA, et al. Late development of the GABAergic system in the human cerebral cortex and white matter. Journal of Neuropathology and Experimental Neurology. 2011; 70:841-58.
36. Cookson MR. E volution of neurodegeneration. C urrent Biology: CB. 2012; 22:R753-61.
37. Seeley W W, Carlin D A, Allman J M, Macedo M N, Bush C, Miller BL, et al. Early frontotemporal dementia targets neurons unique to apes and humans. Annals of Neurology. 2006; 60:660-7.
38. Lang EW, Tome AM, Keck IR, Gorriz-Saez JM, Puntonet CG. Brain connectivity analysis: a short survey. Computational Intelligence and Neuroscience. 2012; 2012:412512.
39. v an den Heuvel MP, Sporns O. R ich-club organization of the human connectome. J Neurosci. 2011; 31:15775-86.
40. Zhou J, Gennatas ED, Kramer JH, Miller BL, Seeley WW. Predicting regional neurodegeneration from the healthy brain functional connectome. Neuron. 2012; 73:1216-27.
41. Sherwood C C, Subiaul F, Zawidzki T W. A natural history of the human mind: tracing evolutionary changes in brain and cognition. Journal of Anatomy. 2008; 212:426-54.
42. Solari SV, Stoner R. C ognitive consilience: primate nonprimary neuroanatomical circuits underlying cognition. Frontiers in Neuroanatomy. 2011; 5:65.
43. Eisen A. A myotrophic lateral sclerosis: evolutionary and other perspectives. Muscle Nerve. 2009; 40:297-304.
44. Ghika J. P aleoneurology: neurodegenerative diseases are agerelated diseases of specifi c brain regions recently developed by Homo sapiens. Medical Hypotheses. 2008; 71:788-801.
45. Knopman DS, Roberts RO. E stimating the number of persons with frontotemporal lobar degeneration in the US population. Journal of Molecular Neuroscience. 2011; 45:330-5.
46. Aboitiz F. G estures, vocalizations, and memory in language origins. Frontiers in Evolutionary Neuroscience. 2012; 4:2.
47. Arbib M A, Liebal K, Pika S. P rimate vocalization, gesture, and the evolution of human language. Current Anthropology. 2008; 49:1053-63; discussion 63-76.
48. Roby-Brami A, Hermsdorfer J, Roy AC, Jacobs S. A neuropsychological perspective on the link between language and praxis in modern humans. Philosophical transactions of the Royal Society of London Series B, Biological sciences. 2012; 367:144-60.
49. Budd JM, Kisvarday ZF. C ommunication and wiring in the cortical connectome. Frontiers in Neuroanatomy. 2012; 6:42.
50. Pievani M, de Haan W, Wu T, Seeley WW, Frisoni GB. F unctional network disruption in the degenerative dementias. Lancet Neurol. 2011; 10:829-43.
51. Smith S M, Fox P T, Miller K L, Glahn D C, Fox P M, Mackay CE, et al. Correspondence of the brain's functional architecture during activation and rest. Proc Natl Acad Sci USA. 2009; 106:13040-5.
52. Sporns O. The human connectome: a complex network. A nn N YAcad Sci. 2011; 1224:109-25.
53. Seeley W W, Crawford R K, Zhou J, Miller B L, Greicius M D. Neurodegenerative diseases target large-scale human brain networks. Neuron. 2009; 62:42-52.
54. Raj A, Kuceyeski A, Weiner M. A network diffusion model of disease progression in dementia. Neuron. 2012; 73:1204-15.
55. Seeley WW. S elective functional, regional, and neuronal vulnerability in frontotemporal dementia. Current Opinion in Neurology. 2008; 21:701-7.
56. Perneczky R, Drzezga A, Diehl-Schmid J, Li Y, Kurz A. Gender differences in brain reserve: an (18)F-FDG PET study in Alzheimer's disease. Journal of Neurology. 2007; 254:1395-400.
57. Filippini N, MacIntosh B J, Hough M G, Goodwin GM, Frisoni GB, Smith SM, et al. Distinct patterns of brain activity in young carriers of the APOE-epsilon4 allele. Proc Natl Acad Sci USA. 2009; 106:7209-14.
58. DeLong M R, Wichmann T. C ircuits and circuit disorders of the basal ganglia. Archives of Neurology. 2007; 64:20-4.
59. Niethammer M, Feigin A, Eidelberg D. F unctional neuroimaging in Parkinson's disease. Cold Spring Harbor Perspectives in Medicine. 2012; 2:a009274.
60. Kanwisher N. F unctional specifi city in the human brain: a window into the functional architecture of the mind. Proceedings of the National Academy of Sciences of the United States of America. 2010; 107:11163-70.
61. Bak T H, Chandran S. W hat wires together dies together: verbs, actions and neurodegeneration in motor neuron disease. Cortex. 2012; 48:936-44.
62. Braak H, Braak E. S taging of Alzheimer's disease-related neurofi brillary changes. Neurobiology of Aging. 1995; 16:271-8; discussion 8-84.
63. Braak H, Ghebremedhin E, Rub U, Bratzke H, del Tredici K. Stages in the development of Parkinson's disease-related pathology. Cell and Tissue Research. 2004; 318:121-34.
64. Verstraete E, van den Heuvel MP, Veldink JH, Blanken N, Mandl RC, Hulshoff Pol HE, et al. Motor network degeneration in amyotrophic lateral sclerosis: a structural and functional connectivity study. PLoS One. 2010; 5:e13664.
65. Douaud G, Filippini N, Knight S, Talbot K, Turner MR. Integration of structural and functional magnetic resonance imaging in amyotrophic lateral sclerosis. Brain. 2011; 134:3470-9.
66. Verstraete E, Veldink JH, Mandl RC, van den Berg LH, van den Heuvel MP. Impaired structural motor connectome in amyotrophic lateral sclerosis. PLoS One. 2011; 6:e24239.
67. Swash M. H ow does ALS spread between neurons in the CNS? Journal of Neurology, Neurosurgery, and Psychiatry. 2013; 84:116-7.
68. Kropp S, Schulz-Schaeffer WJ, Finkenstaedt M, Riedemann C, Windl O, Steinhoff BJ, et al. The Heidenhain variant of Creutzfeldt-Jakob disease. Archives of Neurology. 1999; 56:55-61.
69. Fling BW, Chapekis M, Reuter-Lorenz PA, Anguera J, Bo J, Langan J, et al. Age differences in callosal contributions to cognitive processes. Neuropsychologia. 2011; 49:2564-9.
70. Fling BW, Peltier SJ, Bo J, Welsh RC, Seidler RD. A ge differences in interhemispheric interactions: callosal structure, physiological function, and behaviour. Frontiers in Neuroscience. 2011; 5:38.
71. Innocenti GM. D ynamic interactions between the cerebral hemispheres. Exp Brain Res. 2009; 192:417-23.
72. Rostrup E, Paulson O B, Barkhof F, Scheltens P, van Straaten EC, et al. Corpus callosum atrophy as a predictor of age-related cognitive and motor impairment: a threeyear follow-up of the LADIS study cohort. Journal of the Neurological Sciences. 2011; 307:100-5.
73. Di Paola M, Luders E, Di Iulio F, Cherubini A, Passafi ume D, Thompson PM, et al. Callosal atrophy in mild cognitive impairment and Alzheimer's disease: different effects in different stages. NeuroImage. 2010; 49:141-9.
74. Cronin-Golomb A. P arkinson's disease as a disconnection syndrome. Neuropsychology Review. 2010; 20:191-208.
75. Filippini N, Douaud G, Mackay CE, Knight S, Talbot K, Turner MR. Corpus callosum involvement is a consistent feature of amyotrophic lateral sclerosis. Neurology. 2010; 75:1645-52.
76. Chapman M C, Jelsone-Swain L, Fling B W, Johnson TD, Gruis K, Welsh RC. Corpus callosum area in amyotrophic lateral sclerosis. Amyotroph Lateral Scler: offi cial publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. 2012; 13:589-91.
77. Wittstock M, Meister S, Walter U, Benecke R, Wolters A. Mirror movements in amyotrophic lateral sclerosis. Amyotroph Lateral Scler: offi cial publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. 2011; 12:393-7.
78. Paul LK. D evelopmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement. Journal of Neurodevelopmental Disorders. 2011; 3:3-27.
79. Twine N A, Janitz K, Wilkins M R, Janitz M. W hole transcriptome sequencing reveals gene expression and splicing differences in brain regions affected by Alzheimer's disease. PLoS One. 2011; 6:e16266.
80. Lehmann M, Ghosh PM, Madison C, Laforce R Jr, Corbetta-Rastelli C, Weiner MW, et al. Diverging patterns of amyloid deposition and hypometabolism in clinical variants of probable Alzheimer's disease. Brain. 2013; 136:844-58.
81. Rakic P. E volution of the neocortex: a perspective from developmental biology. Nature Reviews Neuroscience. 2009; 10:724-35.
82. Turner M, Goldacre R, Goldacre M. R educed cancer incidence in Huntington's disease: record linkage study clue to an evolutionary trade-off Clinical Genetics. 2013; 83:588-90.