Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration

Acta Neuropathologica

Volumn 127, Issue 2, 2014, Pages 271-282

  Kouri, Naomi ^a,b   Carlomagno, Yari ^a   Baker, Matthew ^a   Liesinger, Amanda M ^a   Caselli, Richard J ^c   Wszolek, Zbigniew K ^d   Petrucelli, Leonard ^a   Boeve, Bradley F ^b   Parisi, Joseph E ^b   Josephs, Keith A ^b   Uitti, Ryan J ^d   Ross, Owen A ^a   Graff Radford, Neill R ^d   Deture, Michael A ^a   Dickson, Dennis W ^a   Rademakers, Rosa ^a  

^a MAYO GRADUATE SCHOOL   (United States)

^b MAYO CLINIC   (United States)

^c MAYO CLINIC   (United States)

^d MAYO CLINIC   (United States)

Author keywords

Corticobasal degeneration; MAPT mutations; Microtubule associated protein tau; Progressive supranuclear palsy; Tauopathy; TDP 43

Indexed keywords

TAU PROTEIN;

3' UNTRANSLATED REGION; ARTICLE; BRAIN ATROPHY; BRAIN REGION; BRAIN TISSUE; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; CORTICOBASAL DEGENERATION; DNA SEQUENCE; ELECTRON MICROSCOPY; EXON; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN TISSUE; HYPOKINESIA; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; IN VIVO STUDY; INDEL MUTATION; LOGISTIC REGRESSION ANALYSIS; MICROTUBULE ASSEMBLY; NEUROPATHOLOGY; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; PROTEIN ANALYSIS; PROTEIN HOMEOSTASIS; PROTEIN PURIFICATION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REVERSED PHASE LIQUID CHROMATOGRAPHY; RIGIDITY; SEQUENCE ANALYSIS; TDP 43 PROTEINOPATHY; WESTERN BLOTTING; WILD TYPE;

ALLELES; AUTOPSY; CASE-CONTROL STUDIES; COHORT STUDIES; EXONS; FEMALE; GENOTYPE; HUMANS; MIDDLE AGED; MUTATION; NEURODEGENERATIVE DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE; TAU PROTEINS; TAUOPATHIES;

EID: 84896813856     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-013-1193-7     Document Type: Article

References (37)

1. Adams SJ, DeTure MA, McBride M, Dickson DW, Petrucelli L (2010) Three repeat isoforms of tau inhibit assembly of four repeat tau filaments. PLoS ONE 5:e10810
2. Ahmed Z, Josephs KA, Gonzalez J, DelleDonne A, Dickson DW (2008) Clinical and neuropathologic features of progressive supranuclear palsy with severe pallido-nigro-luysial degeneration and axonal dystrophy. Brain 131:460-472
3. Baker M, Litvan I, Houlden H et al (1999) Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet 8:711-715
4. Boeve BF, Maraganore DM, Parisi JE, Ahlskog JE, Graff-Radford N, Caselli RJ, Dickson DW, Kokmen E, Petersen RC (1999) Pathologic heterogeneity in clinically diagnosed corticobasal degeneration. Neurology 53:795-800
5. Bugiani O, Murrell JR, Giaccone G et al (1999) Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J Neuropathol Exp Neurol 58:667-677
6. Conrad C, Andreadis A, Trojanowski JQ et al (1997) Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol 41:277-281
7. Coppola G, Chinnathambi S, Lee JJ et al (2012) Evidence for a role of the rare p. A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet 21:3500-3512
8. Di Noto L, DeTure MA, Purich DL (1999) Disulfide-cross-linked tau and MAP2 homodimers readily promote microtubule assembly. Mol Cell Biol Res Commun 2:71-76
9. Dickson DW (1999) Neuropathologic differentiation of progressive supranuclear palsy and corticobasal degeneration. J Neurol 246(Suppl 2):II6-II15
10. Dickson DW, Bergeron C, Chin SS et al (2002) Office of rare diseases neuropathologic criteria for corticobasal degeneration. J Neuropathol Exp Neurol 61:935-946
11. Ezquerra M, Pastor P, Valldeoriola F, Molinuevo JL, Blesa R, Tolosa E, Oliva R (1999) Identification of a novel polymorphism in the promoter region of the tau gene highly associated to progressive supranuclear palsy in humans. Neurosci Lett 275:183-186
12. Fekete R, Bainbridge M, Baizabal-Carvallo JF, Rivera A, Miller B, Du P, Kholodovych V, Powell S, Ondo W (2013) Exome sequencing in familial corticobasal degeneration. Parkinsonism Relat Disord. pii: S1353-8020(13)00234-4
13. Geser F, Winton MJ, Kwong LK et al (2008) Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam. Acta Neuropathol 115:133-145
14. Grover A, England E, Baker M et al (2003) A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy. Exp Neurol 184:131-140
15. Hoglinger GU, Melhem NM, Dickson DW et al (2011) Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet 43:699-705
16. Houlden H, Baker M, Morris HR et al (2001) Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology 56:1702-1706
17. Hutton M, Lendon CL, Rizzu P et al (1998) Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393:702-705
18. Ingelsson M, Ramasamy K, Cantuti-Castelvetri I et al (2006) No alteration in tau exon 10 alternative splicing in tangle-bearing neurons of the Alzheimer's disease brain. Acta Neuropathol 112:439-449
19. Kara E, Ling H, Pittman AM et al (2012) The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobiol Aging 33:2231, e2237-e2231, e2214
20. Kouri N, Murray ME, Hassan A et al (2011) Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome. Brain 134:3264-3275
21. Kouri N, Oshima K, Takahashi M, Murray ME, Ahmed Z, Parisi JE, Yen SH, Dickson DW (2013) Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology: an unusual clinicopathologic variant of CBD. Acta Neuropathol 125:741-752
22. Kouri N, Whitwell JL, Josephs KA, Rademakers R, Dickson DW (2011) Corticobasal degeneration: a pathologically distinct 4R tauopathy. Nat Rev Neurol 7:263-272
23. Kovacs GG, Wohrer A, Strobel T, Botond G, Attems J, Budka H (2011) Unclassifiable tauopathy associated with an A152T variation in MAPT exon 7. Clin Neuropathol 30:3-10
24. Lippa CF, Zhukareva V, Kawarai T et al (2000) Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. Ann Neurol 48:850-858
25. McKee AC, Gavett BE, Stern RA et al (2010) TDP-43 proteinopathy and motor neuron disease in chronic traumatic encephalopathy. J Neuropathol Exp Neurol 69:918-929
26. Nasreddine ZS, Loginov M, Clark LN et al (1999) From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation. Ann Neurol 45:704-715
27. Pastor P, Ezquerra M, Perez JC et al (2004) Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. Ann Neurol 56:249-258
28. Poorkaj P, Bird TD, Wijsman E et al (1998) Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 43:815-825
29. Purcell S, Neale B, Todd-Brown K et al (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-575
30. Rademakers R, Melquist S, Cruts M et al (2005) High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet 14:3281-3292
31. Santacruz K, Lewis J, Spires T et al (2005) Tau suppression in a neurodegenerative mouse model improves memory function. Science 309:476-481
32. Spillantini MG, Murrell JR, Goedert M, Farlow MR, Klug A, Ghetti B (1998) Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 95:7737-7741
33. Spillantini MG, Yoshida H, Rizzini C, Lantos PL, Khan N, Rossor MN, Goedert M, Brown J (2000) A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies. Ann Neurol 48:939-943
34. Uryu K, Nakashima-Yasuda H, Forman MS et al (2008) Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies. J Neuropathol Exp Neurol 67:555-564
35. Williams DR, Holton JL, Strand K, Revesz T, Lees AJ (2007) Pure akinesia with gait freezing: a third clinical phenotype of progressive supranuclear palsy. Mov Disord 22:2235-2241
36. Wszolek ZK, Tsuboi Y, Farrer M, Uitti RJ, Hutton ML (2003) Hereditary tauopathies and parkinsonism. Adv Neurol 91:153-163
37. Zarranz JJ, Ferrer I, Lezcano E et al (2005) A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. Neurology 64:1578-1585