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Tauopathy

MedGen UID:
181880
•Concept ID:
C0949664
•
Disease or Syndrome
Synonym: Tauopathies
 
Monarch Initiative: MONDO:0005574

Definition

Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration. [from MONDO]

Professional guidelines

PubMed

Revised criteria for diagnosis and staging of Alzheimer's disease: Alzheimer's Association Workgroup.
Jack CR Jr, Andrews JS, Beach TG, Buracchio T, Dunn B, Graf A, Hansson O, Ho C, Jagust W, McDade E, Molinuevo JL, Okonkwo OC, Pani L, Rafii MS, Scheltens P, Siemers E, Snyder HM, Sperling R, Teunissen CE, Carrillo MC
Alzheimers Dement 2024 Aug;20(8):5143-5169. Epub 2024 Jun 27 doi: 10.1002/alz.13859. PMID: 38934362Free PMC Article
Chronic traumatic encephalopathy (CTE): criteria for neuropathological diagnosis and relationship to repetitive head impacts.
McKee AC, Stein TD, Huber BR, Crary JF, Bieniek K, Dickson D, Alvarez VE, Cherry JD, Farrell K, Butler M, Uretsky M, Abdolmohammadi B, Alosco ML, Tripodis Y, Mez J, Daneshvar DH
Acta Neuropathol 2023 Apr;145(4):371-394. Epub 2023 Feb 10 doi: 10.1007/s00401-023-02540-w. PMID: 36759368Free PMC Article
Progressive supranuclear palsy: Advances in diagnosis and management.
Coughlin DG, Litvan I
Parkinsonism Relat Disord 2020 Apr;73:105-116. Epub 2020 May 25 doi: 10.1016/j.parkreldis.2020.04.014. PMID: 32487421Free PMC Article

Recent clinical studies

Etiology

TREM2 dependent and independent functions of microglia in Alzheimer's disease.
Hou J, Chen Y, Grajales-Reyes G, Colonna M
Mol Neurodegener 2022 Dec 23;17(1):84. doi: 10.1186/s13024-022-00588-y. PMID: 36564824Free PMC Article
Aging, Cellular Senescence, and Alzheimer's Disease.
Liu RM
Int J Mol Sci 2022 Feb 11;23(4) doi: 10.3390/ijms23041989. PMID: 35216123Free PMC Article
Alzheimer's Disease Including Focal Presentations.
Villain N, Dubois B
Semin Neurol 2019 Apr;39(2):213-226. Epub 2019 Mar 29 doi: 10.1055/s-0039-1681041. PMID: 30925614
Prion Diseases.
Geschwind MD
Continuum (Minneap Minn) 2015 Dec;21(6 Neuroinfectious Disease):1612-38. doi: 10.1212/CON.0000000000000251. PMID: 26633779Free PMC Article
The neuropathology of traumatic brain injury.
Mckee AC, Daneshvar DH
Handb Clin Neurol 2015;127:45-66. doi: 10.1016/B978-0-444-52892-6.00004-0. PMID: 25702209Free PMC Article

Diagnosis

Chronic traumatic encephalopathy (CTE): criteria for neuropathological diagnosis and relationship to repetitive head impacts.
McKee AC, Stein TD, Huber BR, Crary JF, Bieniek K, Dickson D, Alvarez VE, Cherry JD, Farrell K, Butler M, Uretsky M, Abdolmohammadi B, Alosco ML, Tripodis Y, Mez J, Daneshvar DH
Acta Neuropathol 2023 Apr;145(4):371-394. Epub 2023 Feb 10 doi: 10.1007/s00401-023-02540-w. PMID: 36759368Free PMC Article
Structure-based classification of tauopathies.
Shi Y, Zhang W, Yang Y, Murzin AG, Falcon B, Kotecha A, van Beers M, Tarutani A, Kametani F, Garringer HJ, Vidal R, Hallinan GI, Lashley T, Saito Y, Murayama S, Yoshida M, Tanaka H, Kakita A, Ikeuchi T, Robinson AC, Mann DMA, Kovacs GG, Revesz T, Ghetti B, Hasegawa M, Goedert M, Scheres SHW
Nature 2021 Oct;598(7880):359-363. Epub 2021 Sep 29 doi: 10.1038/s41586-021-03911-7. PMID: 34588692Free PMC Article
Progressive supranuclear palsy: Advances in diagnosis and management.
Coughlin DG, Litvan I
Parkinsonism Relat Disord 2020 Apr;73:105-116. Epub 2020 May 25 doi: 10.1016/j.parkreldis.2020.04.014. PMID: 32487421Free PMC Article
Prion Diseases.
Geschwind MD
Continuum (Minneap Minn) 2015 Dec;21(6 Neuroinfectious Disease):1612-38. doi: 10.1212/CON.0000000000000251. PMID: 26633779Free PMC Article
The neuropathology of traumatic brain injury.
Mckee AC, Daneshvar DH
Handb Clin Neurol 2015;127:45-66. doi: 10.1016/B978-0-444-52892-6.00004-0. PMID: 25702209Free PMC Article

Therapy

P-tau217 correlates with neurodegeneration in Alzheimer's disease, and targeting p-tau217 with immunotherapy ameliorates murine tauopathy.
Zhang D, Zhang W, Ming C, Gao X, Yuan H, Lin X, Mao X, Wang C, Guo X, Du Y, Shao L, Yang R, Lin Z, Wu X, Huang TY, Wang Z, Zhang YW, Xu H, Zhao Y
Neuron 2024 May 15;112(10):1676-1693.e12. Epub 2024 Mar 20 doi: 10.1016/j.neuron.2024.02.017. PMID: 38513667
The AHEAD 3-45 Study: Design of a prevention trial for Alzheimer's disease.
Rafii MS, Sperling RA, Donohue MC, Zhou J, Roberts C, Irizarry MC, Dhadda S, Sethuraman G, Kramer LD, Swanson CJ, Li D, Krause S, Rissman RA, Walter S, Raman R, Johnson KA, Aisen PS
Alzheimers Dement 2023 Apr;19(4):1227-1233. Epub 2022 Aug 15 doi: 10.1002/alz.12748. PMID: 35971310Free PMC Article
Rutin prevents tau pathology and neuroinflammation in a mouse model of Alzheimer's disease.
Sun XY, Li LJ, Dong QX, Zhu J, Huang YR, Hou SJ, Yu XL, Liu RT
J Neuroinflammation 2021 Jun 11;18(1):131. doi: 10.1186/s12974-021-02182-3. PMID: 34116706Free PMC Article
Microglia drive APOE-dependent neurodegeneration in a tauopathy mouse model.
Shi Y, Manis M, Long J, Wang K, Sullivan PM, Remolina Serrano J, Hoyle R, Holtzman DM
J Exp Med 2019 Nov 4;216(11):2546-2561. Epub 2019 Oct 10 doi: 10.1084/jem.20190980. PMID: 31601677Free PMC Article
Synapse loss and microglial activation precede tangles in a P301S tauopathy mouse model.
Yoshiyama Y, Higuchi M, Zhang B, Huang SM, Iwata N, Saido TC, Maeda J, Suhara T, Trojanowski JQ, Lee VM
Neuron 2007 Feb 1;53(3):337-51. doi: 10.1016/j.neuron.2007.01.010. PMID: 17270732

Prognosis

Revised criteria for diagnosis and staging of Alzheimer's disease: Alzheimer's Association Workgroup.
Jack CR Jr, Andrews JS, Beach TG, Buracchio T, Dunn B, Graf A, Hansson O, Ho C, Jagust W, McDade E, Molinuevo JL, Okonkwo OC, Pani L, Rafii MS, Scheltens P, Siemers E, Snyder HM, Sperling R, Teunissen CE, Carrillo MC
Alzheimers Dement 2024 Aug;20(8):5143-5169. Epub 2024 Jun 27 doi: 10.1002/alz.13859. PMID: 38934362Free PMC Article
New knowledge on anti-IgLON5 disease.
Gaig C, Sabater L
Curr Opin Neurol 2024 Jun 1;37(3):316-321. Epub 2024 Apr 1 doi: 10.1097/WCO.0000000000001271. PMID: 38563128Free PMC Article
The tauopathies.
Devi G
Handb Clin Neurol 2023;196:251-265. doi: 10.1016/B978-0-323-98817-9.00015-6. PMID: 37620072
Chronic traumatic encephalopathy (CTE): criteria for neuropathological diagnosis and relationship to repetitive head impacts.
McKee AC, Stein TD, Huber BR, Crary JF, Bieniek K, Dickson D, Alvarez VE, Cherry JD, Farrell K, Butler M, Uretsky M, Abdolmohammadi B, Alosco ML, Tripodis Y, Mez J, Daneshvar DH
Acta Neuropathol 2023 Apr;145(4):371-394. Epub 2023 Feb 10 doi: 10.1007/s00401-023-02540-w. PMID: 36759368Free PMC Article
The neuropathology of traumatic brain injury.
Mckee AC, Daneshvar DH
Handb Clin Neurol 2015;127:45-66. doi: 10.1016/B978-0-444-52892-6.00004-0. PMID: 25702209Free PMC Article

Clinical prediction guides

Microglial lipid droplet accumulation in tauopathy brain is regulated by neuronal AMPK.
Li Y, Munoz-Mayorga D, Nie Y, Kang N, Tao Y, Lagerwall J, Pernaci C, Curtin G, Coufal NG, Mertens J, Shi L, Chen X
Cell Metab 2024 Jun 4;36(6):1351-1370.e8. Epub 2024 Apr 23 doi: 10.1016/j.cmet.2024.03.014. PMID: 38657612Free PMC Article
New knowledge on anti-IgLON5 disease.
Gaig C, Sabater L
Curr Opin Neurol 2024 Jun 1;37(3):316-321. Epub 2024 Apr 1 doi: 10.1097/WCO.0000000000001271. PMID: 38563128Free PMC Article
Chronic traumatic encephalopathy (CTE): criteria for neuropathological diagnosis and relationship to repetitive head impacts.
McKee AC, Stein TD, Huber BR, Crary JF, Bieniek K, Dickson D, Alvarez VE, Cherry JD, Farrell K, Butler M, Uretsky M, Abdolmohammadi B, Alosco ML, Tripodis Y, Mez J, Daneshvar DH
Acta Neuropathol 2023 Apr;145(4):371-394. Epub 2023 Feb 10 doi: 10.1007/s00401-023-02540-w. PMID: 36759368Free PMC Article
Structure-based classification of tauopathies.
Shi Y, Zhang W, Yang Y, Murzin AG, Falcon B, Kotecha A, van Beers M, Tarutani A, Kametani F, Garringer HJ, Vidal R, Hallinan GI, Lashley T, Saito Y, Murayama S, Yoshida M, Tanaka H, Kakita A, Ikeuchi T, Robinson AC, Mann DMA, Kovacs GG, Revesz T, Ghetti B, Hasegawa M, Goedert M, Scheres SHW
Nature 2021 Oct;598(7880):359-363. Epub 2021 Sep 29 doi: 10.1038/s41586-021-03911-7. PMID: 34588692Free PMC Article
Autophagy and Tau Protein.
Hamano T, Enomoto S, Shirafuji N, Ikawa M, Yamamura O, Yen SH, Nakamoto Y
Int J Mol Sci 2021 Jul 12;22(14) doi: 10.3390/ijms22147475. PMID: 34299093Free PMC Article

Recent systematic reviews

The prevalence and incidence of progressive supranuclear palsy and corticobasal syndrome: a systematic review and meta-analysis.
Lyons S, Trépel D, Lynch T, Walsh R, O'Dowd S
J Neurol 2023 Sep;270(9):4451-4465. Epub 2023 Jun 8 doi: 10.1007/s00415-023-11791-2. PMID: 37289323Free PMC Article
Association between single moderate to severe traumatic brain injury and long-term tauopathy in humans and preclinical animal models: a systematic narrative review of the literature.
Walker A, Chapin B, Abisambra J, DeKosky ST
Acta Neuropathol Commun 2022 Jan 31;10(1):13. doi: 10.1186/s40478-022-01311-0. PMID: 35101132Free PMC Article
Prevalence and clinical associations of tau in Lewy body dementias: A systematic review and meta-analysis.
Chin KS, Yassi N, Churilov L, Masters CL, Watson R
Parkinsonism Relat Disord 2020 Nov;80:184-193. Epub 2020 Sep 23 doi: 10.1016/j.parkreldis.2020.09.030. PMID: 33260030
Progressive supranuclear palsy (PSP): Richardson syndrome and other PSP variants.
Lopez G, Bayulkem K, Hallett M
Acta Neurol Scand 2016 Oct;134(4):242-9. Epub 2016 Jan 6 doi: 10.1111/ane.12546. PMID: 27070344Free PMC Article
Clinicopathological review of pallidonigroluysian atrophy.
Wong JC, Armstrong MJ, Lang AE, Hazrati LN
Mov Disord 2013 Mar;28(3):274-81. Epub 2012 Oct 31 doi: 10.1002/mds.25232. PMID: 23114877

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