| Tauopathy |
| Classification and external resources |
| MeSH |
D024801 |
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[edit on Wikidata]
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Diagram of a normal microtubule and one affected by tauopathy
Tauopathies are a class of neurodegenerative diseases associated with the pathological aggregation of tau protein[1] in the human brain.
The best-known of these illnesses is Alzheimer's disease (AD), wherein tau protein is deposited within neurons in the form of neurofibrillary tangles (NFTs). They were first described by the eponymous Alois Alzheimer in one of his patients suffering from the disorder. Tangles are formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. (These aggregations of hyperphosphorylated tau protein are also referred to as PHF, or "paired helical filaments"). The precise mechanism of tangle formation is not completely understood, and it is still controversial as to whether tangles are a primary causative factor in the disease or play a more peripheral role. AD is also classified as an amyloidosis because of the presence of senile plaques.[2]
The degree of NFT involvement in AD is defined by Braak stages. Braak stages I and II are used when NFT involvement is confined mainly to the transentorhinal region of the brain, stages III and IV when there's also involvement of limbic regions such as the hippocampus, and V and VI when there's extensive neocortical involvement. This should not be confused with the degree of senile plaque involvement, which progresses differently.[3]
Other conditions in which neurofibrillary tangles are commonly observed include:
- Progressive supranuclear palsy[4] although with straight filament rather than PHF tau
- Dementia pugilistica (chronic traumatic encephalopathy)[5]
- Frontotemporal dementia and parkinsonism linked to chromosome 17, however without detectable β-amyloid plaques.[6]
- Lytico-Bodig disease (Parkinson-dementia complex of Guam)[7]
- Tangle-predominant dementia, with NFTs similar to AD, but without plaques. Tends to appear in the very old.[2][8][9]
- Ganglioglioma and gangliocytoma[10]
- Meningioangiomatosis[11]
- Subacute sclerosing panencephalitis[12]
- As well as lead encephalopathy, tuberous sclerosis, Hallervorden-Spatz disease, and lipofuscinosis[13]
In Pick's disease and corticobasal degeneration tau proteins are deposited in the form of inclusion bodies within swollen or "ballooned" neurons.[14]
Argyrophilic grain disease (AGD), another type of dementia,[15][16][17] is marked by the presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.[18] Some consider it to be a type of Alzheimer disease.[18] It may co-exist with other tauopathies such as progressive supranuclear palsy and corticobasal degeneration,[2] and also Pick's disease.[19]
Huntington's disease: a neurodegenerative disease caused by a CAG tripled expansion in huntingtin gene is the most recently described tauopathy (Fernandez-Nogales et al. Nat Med 2014). JJ Lucas and co-workers demonstrated that in HD brains tau levels are increased and that the 4R/3R balance is altered. In addition, in this study, JJ Lucas shows intranuclear insoluble deposits of tau. These "Lucas rods" were also found in Alzheimer's disease brains.
Tauopathies, most notably Alzheimer's, often have overlap with synucleinopathies, possibly because of interaction between the synuclein and tau proteins.[20][21]
The non-Alzheimer's tauopathies are sometimes grouped together as "Pick's complex" because of their association with Frontotemporal dementia, or Frontotemporal lobar degeneration.[22][23][24]
See also
References
- ^ Rizzo, G.; Martinelli, P.; Manners, D.; Scaglione, C.; Tonon, C.; Cortelli, P.; Malucelli, E.; Capellari, S.; et al. (2008). "Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease". Brain 131 (Pt 10): 2690–700. doi:10.1093/brain/awn195. PMID 18819991.
- ^ a b c Dickson, DW (2009). "Neuropathology of Non-Alzheimer Degenerative Disorders". International journal of clinical and experimental pathology 3 (1): 1–23. PMC 2776269. PMID 19918325.
- ^ Braak, H.; Braak, E. (1991). "Neuropathological stageing of Alzheimer-related changes". Acta Neuropathologica 82 (4): 239–59. doi:10.1007/BF00308809. PMID 1759558.
- ^ Williams, David R; Lees, Andrew J (2009). "Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges". The Lancet Neurology 8 (3): 270–9. doi:10.1016/S1474-4422(09)70042-0. PMID 19233037.
- ^ Roberts, GW (1988). "Immunocytochemistry of neurofibrillary tangles in dementia pugilistica and Alzheimer's disease: evidence for common genesis". Lancet 2 (8626–8627): 1456–58. doi:10.1016/S0140-6736(88)90934-8. PMID 2904573.
- ^ Selkoe, Dennis J.; Podlisny, Marcia B. (2002). "Deciphering the genetic basis of Alzheimer's disease". Annual Review of Genomics and Human Genetics 3: 67–99. doi:10.1146/annurev.genom.3.022502.103022. PMID 12142353.
- ^ Hof, P. R.; Nimchinsky, E. A.; Bu�e-Scherrer, V.; Bu�e, L.; Nasrallah, J.; Hottinger, A. F.; Purohit, D. P.; Loerzel, A. J.; et al. (1994). "Amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam: quantitative neuropathology, immunohistochemical analysis of neuronal vulnerability, and comparison with related neurodegenerative disorders". Acta Neuropathologica 88 (5): 397–404. doi:10.1007/BF00389490. PMID 7847067.
- ^ Santa-Maria, Ismael; Haggiagi A; Liu X; Wasserscheid J; Nelson PT; Dewar K; Clark LN; Crary JF (Nov 2012). "The MAPT H1 haplotype is associated with tangle-predominant dementia". Acta Neuropathologica 124 (5): 693–704. doi:10.1007/s00401-012-1017-1. PMID 22802095.
- ^ Jellinger, K. A.; Attems, J. (2006). "Neurofibrillary tangle-predominant dementia: comparison with classical Alzheimer disease". Acta Neuropathologica 113 (2): 107–17. doi:10.1007/s00401-006-0156-7. PMID 17089134.
- ^ Brat, Daniel J.; Gearing, Marla; Goldthwaite, Patricia T.; Wainer, Bruce H.; Burger, Peter C. (2001). "Tau-associated neuropathology in ganglion cell tumours increases with patient age but appears unrelated to ApoE genotype". Neuropathology and Applied Neurobiology 27 (3): 197–205. doi:10.1046/j.1365-2990.2001.00311.x. PMID 11489139.
- ^ Halper, J; Scheithauer, BW; Okazaki, H; Laws Jr, ER (1986). "Meningio-angiomatosis: a report of six cases with special reference to the occurrence of neurofibrillary tangles". Journal of neuropathology and experimental neurology 45 (4): 426–46. doi:10.1097/00005072-198607000-00005. PMID 3088216.
- ^ Paula-Barbosa, M. M.; Brito, R.; Silva, C. A.; Faria, R.; Cruz, C. (1979). "Neurofibrillary changes in the cerebral cortex of a patient with subacute sclerosing panencephalitis (SSPE)". Acta Neuropathologica 48 (2): 157–60. doi:10.1007/BF00691159. PMID 506699.
- ^ Wisniewski, Krystyna; Jervis, George A.; Moretz, Roger C.; Wisniewski, Henryk M. (1979). "Alzheimer neurofibrillary tangles in diseases other than senile and presenile dementia". Annals of Neurology 5 (3): 288–94. doi:10.1002/ana.410050311. PMID 156000.
- ^ Arai, Tetsuaki; Ikeda, Kenji; Akiyama, Haruhiko; Shikamoto, Yasuo; Tsuchiya, Kuniaki; Yagishita, Saburo; Beach, Thomas; Rogers, Joseph; et al. (2001). "Distinct isoforms of tau aggregated in neurons and glial cells in brains of patients with Pick's disease, corticobasal degeneration and progressive supranuclear palsy". Acta Neuropathologica 101 (2): 167–73. doi:10.1007/s004010000283 (inactive 2015-02-01). PMID 11271372.
- ^ Ferrer I, Santpere G, van Leeuwen FW; Santpere; Van Leeuwen (2008). "Argyrophilic grain disease". Brain (journal) 131 (Pt 6): 1416–1432. doi:10.1093/brain/awm305. PMID 18234698.
- ^ Josephs KA, Whitwell JL, Parisi JE, Knopman DS, Boeve BF, Geda YE, Jack CR Jr, Petersen RC, Dickson DW; Whitwell; Parisi; Knopman; Boeve; Geda; Jack Jr; Petersen; Dickson (2008). "Argyrophilic grains: a distinct disease or an additive pathology?". Neurobiology of Aging 29 (4): 566–573. doi:10.1016/j.neurobiolaging.2006.10.032. PMC 2727715. PMID 17188783.
- ^ Wallon, D.; Sommervogel, C.; Laquerrière, A.; Martinaud, O.; Lecourtois, M.; Hannequin, D. (2010). "Maladie des grains argyrophiles : composante synergique de la démence ?" [Argyrophilic grain disease: synergistic component of dementia?]. Revue neurologique (in French) 166 (4): 428–32. doi:10.1016/j.neurol.2009.10.012. PMID 19963233.
- ^ a b Tolnay, M; Monsch, AU; Staehelin, HB; Probst, A (1999). "Argyrophilic grain disease: differentiation from Alzheimer disease". Der Pathologe 20 (3): 159–68. PMID 10412175.
- ^ Jellinger KA (1998). "Dementia with grains (argyrophilic grain disease". Brain Pathology 8 (2): 377–386. doi:10.1111/j.1750-3639.1998.tb00161.x. PMID 9546294.
- ^ Simon Moussaud, Daryl R Jones, Elisabeth L Moussaud-Lamodière, Marion Delenclos, Owen A Ross, and Pamela J McLean, corresponding author (October 2014). "Alpha-synuclein and tau: teammates in neurodegeneration?". Mol Neurodegener. doi:10.1186/1750-1326-9-43. PMC 4230508. PMID 25352339.
- ^ Jing L. Guo,1 Dustin J. Covell,1 Joshua P. Daniels,1 Michiyo Iba,1 Anna Stieber,1 Bin Zhang,1 Dawn M. Riddle,1 Linda K. Kwong,1 Yan Xu,1 John Q. Trojanowski,1 and Virginia M.Y. Lee1,* (July 2013). "Distinct α-Synuclein Strains Differentially Promote Tau Inclusions in Neurons". Cell 154 (1): 103–17. doi:10.1016/j.cell.2013.05.057. PMC 3820001. PMID 23827677.
- ^ Kertesz, Andrew (2003). "Pick Complex: An Integrative Approach to Frontotemporal Dementia". The Neurologist 9 (6): 311–17. doi:10.1097/01.nrl.0000094943.84390.cf. PMID 14629785.
- ^ Kertesz, Andrew (2003). "Pick's complex and FTDP-17". Movement Disorders 18: 57–62. doi:10.1002/mds.10564.
- ^ Andrew Kertesz, Paul McMonagle, Mervin Blair, Wilda Davidson and David G. Munoz (July 20, 2005). "The evolution and pathology of frontotemporal dementia". Brain 128 (9): 1996–2005. doi:10.1093/brain/awh598. PMID 16033782.
External links
- Delacourte, A (2005). "Tauopathies: recent insights into old diseases". Folia Neuropathologica 43 (4): 244–57. PMID 16416389.
- http://www.lifesci.sussex.ac.uk/home/Julian_Thorpe/ad_cyto.htm#tau
- Buée, L; Delacourte, A (1999). "Comparative biochemistry of tau in progressive supranuclear palsy, corticobasal degeneration, FTDP-17 and Pick's disease". Brain Pathology 9 (4): 681–93. doi:10.1111/j.1750-3639.1999.tb00550.x. PMID 10517507.
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Cytoskeletal defects
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| Microfilaments |
| Myofilament |
| Actin |
- Hypertrophic cardiomyopathy 11
- Dilated cardiomyopathy 1AA
- DFNA20
- Nemaline myopathy 3
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| Myosin |
- Elejalde syndrome
- Hypertrophic cardiomyopathy 1, 8, 10
- Usher syndrome 1B
- Freeman–Sheldon syndrome
- DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
- May-Hegglin anomaly
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| Troponin |
- Hypertrophic cardiomyopathy 7, 2
- Nemaline myopathy 4, 5
|
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| Tropomyosin |
- Hypertrophic cardiomyopathy 3
- Nemaline myopathy 1
|
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| Titin |
- Hypertrophic cardiomyopathy 9
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| Other |
- Fibrillin
- Marfan syndrome
- Weill-Marchesani syndrome
- Filamin
- FG syndrome 2
- Boomerang dysplasia
- Larsen syndrome
- Terminal osseous dysplasia with pigmentary defects
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| IF |
| 1/2 |
- Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
- Striate palmoplantar keratoderma 3
- Epidermolytic hyperkeratosis
- IHCM
- KRT2E (Ichthyosis bullosa of Siemens)
- KRT3 (Meesmann juvenile epithelial corneal dystrophy)
- KRT4 (White sponge nevus)
- KRT5 (Epidermolysis bullosa simplex)
- KRT8 (Familial cirrhosis)
- KRT10 (Epidermolytic hyperkeratosis)
- KRT12 (Meesmann juvenile epithelial corneal dystrophy)
- KRT13 (White sponge nevus)
- KRT14 (Epidermolysis bullosa simplex)
- KRT17 (Steatocystoma multiplex)
- KRT18 (Familial cirrhosis)
- KRT81/KRT83/KRT86 (Monilethrix)
- Naegeli–Franceschetti–Jadassohn syndrome
- Reticular pigmented anomaly of the flexures
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| 3 |
- Desmin: Desmin-related myofibrillar myopathy
- Dilated cardiomyopathy 1I
- Peripherin: Amyotrophic lateral sclerosis
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| 4 |
- Neurofilament: Parkinson's disease
- Charcot–Marie–Tooth disease 1F, 2E
- Amyotrophic lateral sclerosis
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| 5 |
- Laminopathy: LMNA
- Mandibuloacral dysplasia
- Dunnigan Familial partial lipodystrophy
- Emery-Dreifuss muscular dystrophy 2
- Limb-girdle muscular dystrophy 1B
- Charcot–Marie–Tooth disease 2B1
- LMNB
- Barraquer–Simons syndrome
- LEMD3
- Buschke–Ollendorff syndrome
- Osteopoikilosis
- LBR
- Pelger-Huet anomaly
- Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
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| Microtubules |
| Kinesin |
- Charcot–Marie–Tooth disease 2A
- Hereditary spastic paraplegia 10
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| Dynein |
- Primary ciliary dyskinesia
- Short rib-polydactyly syndrome 3
- Asphyxiating thoracic dysplasia 3
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| Other |
- Tauopathy
- Cavernous venous malformation
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| Membrane |
- Spectrin: Spinocerebellar ataxia 5
- Hereditary spherocytosis 2, 3
- Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
- Hereditary spherocytosis 1
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| Catenin |
- APC
- Gardner's syndrome
- Familial adenomatous polyposis
- plakoglobin (Naxos syndrome)
- GAN (Giant axonal neuropathy)
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| Other |
- desmoplakin: Striate palmoplantar keratoderma 2
- Carvajal syndrome
- Arrhythmogenic right ventricular dysplasia 8
- plectin: Epidermolysis bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex of Ogna
- plakophilin: Skin fragility syndrome
- Arrhythmogenic right ventricular dysplasia 9
- centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
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See also: cytoskeletal proteins
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