Tauopathies: One disease or many?

Canadian Journal of Neurological Sciences

Volumn 38, Issue 4, 2011, Pages 547-556

  Bouchard, Manon ^a   Suchowersky, Oksana ^a  

^a UNIVERSITY OF CALGARY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

TAU PROTEIN;

APHASIA; CLINICAL FEATURE; CORTICOBASAL DEGENERATION; FRONTOTEMPORAL DEMENTIA; HEREDITY; HISTOPATHOLOGY; HUMAN; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; REVIEW; SEMANTIC DEMENTIA; TAUOPATHY; TOPOGRAPHY; BRAIN; CLASSIFICATION; GENETICS; METABOLISM; PATHOLOGY; PATHOPHYSIOLOGY;

BRAIN; HUMANS; PHENOTYPE; TAU PROTEINS; TAUOPATHIES;

EID: 80053331488     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100012087     Document Type: Review

References (123)

1. Williams DR. Tauopathies: classification and clinical update on neurodegenerative diseases associated with microtubuleassociated protein tau. Intern Med J. 2006;36(10):652-60.
2. Gu Y, Oyama F, Ihara Y. Tau is widely expressed in rat tissues. J Neurochem. 1996;67(3):1235-44.
3. Müller R, Heinrich M, Heck S, Blohm D, Richter-Landsberg C. Expression of microtubule-associated proteins MAP2 and tau in cultured rat brain oligodendrocytes. Cell Tissue Res. 1997;288 (2):239-49.
4. Couchie D, Charrière-Bertrand C, Nunez J. Expression of the mRNAfor tau proteins during brain development and in cultured neurons and astroglial cells. J Neurochem. 1988;50(6):1894-9.
5. Hirokawa N. Microtubule organization and dynamics dependent on microtubule-associated proteins. Curr Opin Cell Biol. 1994;6(1): 74-81.
6. van Herpen E, Rosso SM, Serverijnen L, et al. Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R. Ann Neurol. 2003;54(5):573-81.
7. Josephs K. Frontotemporal dementia and related disorders: deciphering the enigma. Ann Neurol. 2008;64(1):4-14.
8. Schrag A, Ben-Shlomo Y, Quinn NP. Prevalence of progressive supranuclear palsy and multiple system atrophy: a crosssectional study. Lancet. 1999;354(9192):1771-5.
9. Steele JC, Richardson JC, Olszewski J. Progressive supranuclear palsy. A heterogeneous degeneration involving the brain stem, basal ganglia and cerebellum with vertical gaze and pseudobulbar palsy, nuchal dystonia and dementia. Arch Neurol. 1964;10:333-59.
10. Williams DR, Lees AJ. Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges. Lancet Neurol. 2009;8(3):270-9.
11. Litvan I, Agid Y, Calne D, et al. Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop. Neurology. 1996;47(1):1-9.
12. Rivaud-Péchoux S, Vidailhet M, Gallouedec G, et al. Longitudinal ocular motor study in corticobasal degeneration and progressive supranuclear palsy. Neurology. 2000;54(5):1029-32.
13. Vidailhet M, Rivaud S, Gouider-Khouja N, et al. Eye movements in parkinsonian syndromes. Ann Neurol. 1994;35(4):420-6.
14. Litvan I, Grimes DA, Lang AE, et al. Clinical features differentiating patients with postmortem confirmed progressive supranuclear palsy and corticobasal degeneration. Neurology. 1999;246 Suppl II:1-5.
15. Scaravilli T, Tolosa E, Ferrer I. Progressive supranuclear palsy and corticobasal degeneration: lumping versus splitting. Mov. Disord. 2005;20 Suppl 1:S21-8.
16. Josephs KA, Duffy JR. Apraxia of speech and nonfluent aphasia: a new clinical marker for corticobasal degeneration and progressive supranuclear palsy. Curr Opin Neurol. 2008;21(6): 688-92.
17. Kaat LD, Boon AJ, Kamphorst W, et al. Frontal presentation in progressive supranuclear palsy. Neurology. 2007;69(8):723-9.
18. Maher E, Smith E, Lees A. Cognitive deficits in the Steele-Richardson- Olszewski syndrome (progressive supranuclear palsy). J Neurol Neurosurg Psychiatry. 1985:Dec;48(12):1234-9.
19. Grafman J, Litvan I, Gomez C, Chase TN. Frontal lobe function in progressive supranuclear palsy. Arch Neurol. 1990;47(5):553-8.
20. Kertesz A, McMonagle P. Behavior and cognition in corticobasal degeneration and progressive supranuclear palsy. J Neurol Sci. 2010;289(1-2):138-43.
21. Birdi S, Rajput A, Fenton M, et al. Progressive supranuclear palsy diagnosis and confounding features: report on 16 autopsied cases. Mov Disord. 2002 Nov;17(6):1255-64.
22. Dubas F, Gray F, Escourolle R. Steele-Richardson-Olszewski disease without ophthalmoplegia. 6 clinico-anatomic cases. Rev Neurol (Paris). 1983;139(6-7):407-16.
23. Davis P, Bergeron C, McLachlan D. Atypical presentation of progressive supranuclear palsy. Ann Neurol. 1985 Apr;17(4): 337-43.
24. Daniel SE, de Bruin VM, Lees AJ. The clinical and pathological spectrum of Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy): a reappraisal. Brain. 1995;118 (Pt 3:759-70.
25. Williams DR, de Silva R, Paviour DC, et al. Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSPparkinsonism. Brain. 2005;128(Pt 6):1247-58.
26. Barclay CL, Bergeron C, Lang AE. Arm levitation in progressive supranuclear palsy. Neurology. 1999;52(4):879-82.
27. Oide T, Ohara S, Yazawa M, et al. Progressive supranuclear palsy with asymmetric tau pathology presenting with unilateral limb dystonia. Acta Neuropathol. 2002 Aug;104(2):209-14. Epub 2002 Jun 5.
28. Motoi Y, Takanashi M, Itaya M, et al. Glial localization of fourrepeat tau in atypical progressive supranuclear palsy. Neuropathology. 2004;24(1):60-5.
29. Mizuno T, Shiga K, Nakata Y, et al. Discrepancy between clinical and pathological diagnoses of CBD and PSP. J Neurol. 2005;252 (6):687-97.
30. Barclay CL, Lang AE. Dystonia in progressive supranuclear palsy. J Neurol Neurosurg Psychiatry. 1997;62(4):352-6.
31. Boeve BF, Maraganore DM, Parisi JE, et al. Pathologic heterogeneity in clinically diagnosed corticobasal degeneration. Neurology. 1999;53(4):795-800.
32. Nath U, Ben-Shlomo Y, Thomson RG, Lees AJ, Burn DJ. Clinical features and natural history of progressive supranuclear palsy: a clinical cohort study. Neurology. 2003;60(6):910-6.
33. Masliah E, Hansen L, Quijada S, et al. Late onset dementia with argyrophilic grains and subcortical tangles or atypical progressive supranuclear palsy? Ann Neurol. 1991 Apr;29(4): 389-96.
34. Keith-Rokosh J, Ang LC. Progressive supranuclear palsy: a review of co-existing neurodegeneration. Can J Neurol Sci. 2008;35(5): 602-8.
35. Josephs KA, Petersen RC, Knopman DS, et al. Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP. Neurology. 2006;66(1):41-8.
36. Josephs K, Boeve BF, Duffy JR, et al. Atypical progressive supranuclear palsy underlying progressive apraxia of speech and nonfluent aphasia. Neurocase. 2005;11(4):283-96.
37. Kertesz A, McMonagle P, Blair M, Davidson W, Munoz DG. The evolution and pathology of frontotemporal dementia. Brain. 2005;128(Pt 9):1996-2005.
38. Knibb JA, Xuereb JH, Patterson K, Hodges JR. Clinical and pathological characterization of progressive aphasia. Ann Neurol. 2006;59(1):156-65.
39. Mochizuki A, Ueda Y, Komatsuzaki Y, et al. Progressive supranuclear palsy presenting with primary progressive aphasia-clinicopathological report of an autopsy case. Acta Neuropathol. 2003 Jun;105(6):610-4. Epub 2003 Apr 1.
40. Boeve B, Dickson D, Duffy J, et al. Progressive nonfluent aphasia and subsequent aphasic dementia associated with atypical progressive supranuclear palsy pathology. Eur Neurol. 2003;49 (2):72-8.
41. Josephs KA, Dickson DW. Diagnostic accuracy of progressive supranuclear palsy in the Society for Progressive Supranuclear Palsy brain bank. Mov Disord. 2003;18(9):1018-26.
42. Osaki Y, Ben-Shlomo Y, Lees AJ, et al. Accuracy of clinical diagnosis of progressive supranuclear palsy. Mov Disord. 2004; 19(2):181-9.
43. Gearing M, Olson D, Watts R, Mirra S. Progressive supranuclear palsy: neuropathologic and clinical heterogeneity. Neurology. 1994 Jun;44(6):1015-24.
44. Shiozawa M, Fukutani Y, Sasaki K, et al. Corticobasal degeneration: an autopsy case clinically diagnosed as progressive supranuclear palsy. Clin Neuropathol. 2000 Jul-Aug;19(4):192-9.
45. Ludolph AC, Kassubek J, Landwehrmeyer BG, et al. Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options. Eur J Neurol. 2009; 16(3):297-309.
46. Hauw J, Daniel S, Dickson D, et al. Preliminary NINDS neuropathologic criteria for Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy). Neurology. 1994 Nov;44(11):2015-9.
47. Feany M, Mattiace L, Dickson D. Neuropathologic overlap of progressive supranuclear palsy, Pick's disease and corticobasal degeneration. J Neuropathol Exp Neurol. 1996 Jan;55(1):53-67.
48. Litvan I, Hauw JJ, Bartko JJ, et al. Validity and reliability of the preliminary NINDS neuropathologic criteria for progressive supranuclear palsy and related disorders. J Neuropathol Exp Neurol. 1996;55(1):97-105.
49. Wakabayashi K, Takahashi H. Pathological heterogeneity in progressive supranuclear palsy and corticobasal degeneration. Neuropathology. 2004 Mar;24(1):79-86.
50. Cordato N, Halliday G, McCann H, et al. Corticobasal syndrome with tau pathology. Mov Disord. 2001 Jul;16(4):656-67.
51. Bergeron C, Pollanen MS, Weyer L, Lang AE. Cortical degeneration in progressive supranuclear palsy. A comparison with cortical-basal ganglionic degeneration. J Neuropathol Exp Neurol. 1997;56(6):726-34.
52. Tsuboi Y, Josephs KA, Boeve BF, et al. Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome. Mov Disord. 2005;20(8):982-8.
53. Ikebe S, Mori H, Sumino S, et al. A 77-year-old man with gait and gaze disturbance. N? to Shinkei. 2000;52(3):269-79.
54. Williams DR, Holton JL, Strand C, et al. Pathological tau burden and distribution distinguishes progressive supranuclear palsyparkinsonism from Richardson's syndrome. Brain. 2007;130(Pt 6):1566-76.
55. Williams DR, Holton JL, Strand K, Revesz T, Lees AJ. Pure akinesia with gait freezing: a third clinical phenotype of progressive supranuclear palsy. Mov Disord. 2007;22(15): 2235-41.
56. Jellinger K. Different tau pathology pattern in two clinical phenotypes of progressive supranuclear palsy. Neurodegener Dis. 2008;5(6):339-46. Epub 2008 Mar 18.
57. Rebeiz JJ, Kolodny EH, Richardson EP. Corticodentatonigral degeneration with neuronal achromasia. Arch Neurol. 1968;18 (1):20-33.
58. Gibb WR, Luthert PJ, Marsden CD. Corticobasal degeneration. Brain. 1989;112 (Pt 5):1171-92.
59. Wenning GK, Litvan I, Jankovic J, et al. Natural history and survival of 14 patients with corticobasal degeneration confirmed at postmortem examination. J Neurol Neurosurg Psychiatry. 1998;64(2):184-9.
60. Wadia P, Lang A. The many faces of corticobasal degeneration. Parkinsonism Relat Disord. 2007;13 Suppl 3:S336-40.
61. Lang A, Riley D, Bergeron C. Cortical-basal ganglionic degeneration. In: Clane DB, editor. Neurodegenerative diseases. Philadelphia: WB Saunders; 1994:877-94.
62. Grimes DA, Lang AE, Bergeron CB. Dementia as the most common presentation of cortical-basal ganglionic degeneration. Neurology. 1999;53(9):1969-74.
63. Kertesz A, Martinez-Lage P, Davidson W, Munoz DG. The corticobasal degeneration syndrome overlaps progressive aphasia and frontotemporal dementia. Neurology. 2000;55(9): 1368-75.
64. Pillon B, Blin J, Vidailhet M, et al. The neuropsychological pattern of corticobasal degeneration: comparison with progressive supranuclear palsy and Alzheimer's disease. Neurology. 1995 Aug;45(8):1477-83.
65. Dubois B, Slachevsky A, Litvan I, Pillon B. The FAB: a Frontal Assessment Battery at bedside. Neurology. 2000;55(11):1621-6.
66. Kertesz A, Munoz D. Relationship between frontotemporal dementia and corticobasal degeneration/progressive supranuclear palsy. Dement Geriatr Cogn Disord. 2004;17(4):282-6.
67. Blake M, Duffy J, Boeve B, Ahlskog E, Maraganore D. Speech and language disorders associated with corticobasal degeneration. J Med Speech Lang Pathol 2003;11:131-46.
68. McMonagle P, Blair M, Kertesz A. Corticobasal degeneration and progressive aphasia. Neurology. 2006;67(8):1444-51.
69. Grimes DA, Lang AE, Bergeron CB. Dementia as the most common presentation of cortical-basal ganglionic degeneration. Neurology. 1999;53(9):1969.
70. Hodges JR, Davies RR, Xuereb JH, et al. Clinicopathological correlates in frontotemporal dementia. Ann Neurol. 2004;56(3): 399-406.
71. Renner J, Burns J, Hou C, et al. Progressive posterior cortical dysfunction: a clinicopathologic series. Neurology. 2004 Oct 12; 63(7):1175-80.
72. Tang-Wai D, Graff-Radford N, Boeve B, et al. Clinical, genetic, and neuropathologic characteristics of posterior cortical atrophy. Neurology. 2004 Oct 12;63(7):1168-74.
73. Ikeda K, Akiyama H, Iritani S, et al. Corticobasal degeneration with primary progressive aphasia and accentuated cortical lesion in superior temporal gyrus: case report and review. Acta Neuropathol. 1996;92(5):534-9.
74. Sakurai Y, Hashida H, Uesugi H, et al. A clinical profile of corticobasal degeneration presenting as primary progressive aphasia. Eur Neurol. 1996;36(3):134-7.
75. Bergeron C, Pollanen MS, Weyer L, Black SE, Lang AE. Unusual clinical presentations of cortical-basal ganglionic degeneration. Ann Neurol. 1996;40(6):893-900.
76. Mimura M, Oda T, Tsuchiya K, et al. Corticobasal degeneration presenting with nonfluent primary progressive aphasia: a clinicopathological study. J Neurol Sci. 2001 Jan 15;183(1): 19-26.
77. Mathuranath PS, Xuereb JH, Bak T, Hodges JR. Corticobasal ganglionic degeneration and/or frontotemporal dementia? A report of two overlap cases and review of literature. J Neurol Neurosurg Psychiatry. 2000;68(3):304-12.
78. Revesz T, Holton JL. Anatamopathological spectrum of tauopathies. Mov Disord. 2003;18 Suppl 6:S13-20.
79. Tsuchiya K, Ikeda K, Uchihara T, Oda T, Shimada H. Distribution of cerebral cortical lesions in corticobasal degeneration: a clinicopathological study of five autopsy cases in Japan. Acta Neuropathol. 1997;94(5):416-24.
80. Ikeda K. Basic pathology of corticobasal degeneration. Neuropathology 1997;17:127-33.
81. Wakabayashi K, Oyanagi K, Makifuchi T, et al. Corticobasal degeneration: etiopathological significance of the cytoskeletal alterations. Acta Neuropathol. 1994;87(6):545-53.
82. Su M, Yoshida Y, Hirata Y, Satoh Y.An autopsy case of corticobasal degeneration associated with atrophy of pons and cerebellum. Niigata Medical J. 1999;113:350-1.
83. Ohara S, Tsuyuzaki J, Oide T, et al. A clinical and neuropathological study of an unusual case of sporadic tauopathy. A variant of corticobasal degeneration? Neurosci Lett. 2002;330(1):84-8.
84. Hattori M, Yoshida M, Ojika K, et al. An autopsy case of corticobasal degeneration without prominent cortical pathology-an imitator of progressive supranuclear palsy. Rinsh? Shinkeigaku. 2000;40(4):372-7.
85. Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998;51(6):1546-54.
86. Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. J Neurol Neurosurg Psychiatry. 1994;57(4):416-8.
87. Schneider J, Watts R, Gearing M, Brewer R, Mirra S. Corticobasal degeneration: neuropathologic and clinical heterogeneity. Neurology. 1997 Apr;48(4):959-69.
88. Rinne JO, Lee MS, Thompson PD, Marsden CD. Corticobasal degeneration.Aclinical study of 36 cases. Brain. 1994;117 (Pt 5: 1183-96.
89. McKhann GM, Albert MS, Grossman M, et al. Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol. 2001;58(11):1803-9.
90. Forman MS, Farmer J, Johnson JK, et al. Frontotemporal dementia: clinicopathological correlations. Ann Neurol. 2006;59(6): 952-62.
91. Josephs K, Duffy J, Strand E, et al. Clinicopathological and imaging correlates of progressive aphasia and apraxia of speech. Brain. 2006 Jun;129(Pt 6):1385-98.
92. Kertesz A, Davidson W, Munoz DG. Clinical and pathological overlap between frontotemporal dementia, primary progressive aphasia and corticobasal degeneration: the Pick complex. Dement Geriatr Cogn Disord. 1999;10 Suppl 1:46-9.
93. Dumanchin C, Camuzat A, Campion D, et al. Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. Hum Mol Genet. 1998;7(11):1825-9.
94. Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-14 Nature. 1998;393(6686):702-5.
95. Bugiani O, Murrell JR, Giaccone G, et al. Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J Neuropathol Exp Neurol. 1999;58(6):667-77.
96. Soliveri P, Rossi G, Monza D, et al. A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene. Arch Neurol. 2003;60(10): 1454-6.
97. Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Human Mutation. 2004;24(4):277-95.
98. Ferrer I, Pastor P, Rey MJ, et al. Tau phosphorylation and kinase activation in familial tauopathy linked to deln296 mutation. Neuropathol Appl Neurobiol. 2003;29(1):23-34.
99. Pastor P, Pastor E, Carnero C, et al. Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. Ann Neurol. 2001;49(2): 263-7.
100. Rossi G, Marelli C, Farina L, et al. The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome. Mov Disord. 2008 Apr 30;23(6):892-5.
101. Stanford P, Halliday G, Brooks W, et al. Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. Brain. 2000 May;123 (Pt 5):880-93.
102. Bird TD, Nochlin D, Poorkaj P, et al. A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L). Brain. 1999;122 (Pt 4:741-56.
103. Ksiezak-Reding H, Morgan K, Mattiace LA, et al. Ultrastructure and biochemical composition of paired helical filaments in corticobasal degeneration. Am J Pathol. 1994;145(6):1496-508.
104. Buée Scherrer V, Hof PR, Buée L, et al. Hyperphosphorylated tau proteins differentiate corticobasal degeneration and Pick's disease. Acta Neuropathol. 1996;91(4):351-9.
105. Buée L, Delacourte A. Comparative biochemistry of tau in progressive supranuclear palsy, corticobasal degeneration, FTDP-17 and Pick's disease. Brain Pathol. 1999;9(4):681-93.
106. Tellez-Nagel I, Wi?niewski H. Ultrastructure of neurofibrillary tangles in Steele-Richardson-Olszewski syndrome. Arch Neurol. 1973 Nov;29(5):324-7.
107. Arai T, Ikeda K, Akiyama H, et al. Different immunoreactivities of the microtubule-binding region of tau and its molecular basis in brains from patients with Alzheimer's disease, Pick's disease, progressive supranuclear palsy and corticobasal degeneration. Acta Neuropathol. 2003;105(5):489-98.
108. Berry RW, Sweet AP, Clark FA, et al. Tau epitope display in progressive supranuclear palsy and corticobasal degeneration. J Neurocytol. 2004;33(3):287-95.
109. Arai T, Ikeda K, Akiyama H, et al. Intracellular processing of aggregated tau differs between corticobasal degeneration and progressive supranuclear palsy. Neuroreport. 2001;12(5):935-8.
110. Arai T, Ikeda K, Akiyama H, et al. Identification of aminoterminally cleaved tau fragments that distinguish progressive supranuclear palsy from corticobasal degeneration. Ann Neurol. 2004;55(1):72-9.
111. Tuite PJ, Clark HB, Bergeron C, et al. Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy. Arch Neurol. 2005;62 (9):1453-7.
112. Li F, Iseki E, Kosaka K, et al. Progressive supranuclear palsy with fronto-temporal atrophy and various tau-positive abnormal structures. Clin Neuropathol. 1996 Nov-Dec;15(6):319-23.
113. Katsuse O, Iseki E, Arai T, et al. 4-repeat tauopathy sharing pathological and biochemical features of corticobasal degeneration and progressive supranuclear palsy. Acta Neuropathol. 2003;106(3):251-60.
114. Tan C, Piao Y, Kakita A, et al. Frontotemporal dementia with cooccurrence of astrocytic plaques and tufted astrocytes, and severe degeneration of the cerebral white matter: a variant of corticobasal degeneration? Acta Neuropathol. 2005;109(3): 329-38.
115. Di Maria E, Tabaton M, Vigo T, et al. Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. Ann Neurol. 2000 Mar;47(3):374-7.
116. Houlden H, Baker M, Morris HR, et al. Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology. 2001;56(12):1702-6.
117. Baker M, Litvan I, Houlden H, et al. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet. 1999;8(4):711-5.
118. Conrad C, Andreadis A, Trojanowski J, et al. Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol. 1997 Feb;41(2):277-81.
119. Morris HR, Janssen JC, Bandmann O, et al. The tau gene A0 polymorphism in progressive supranuclear palsy and related neurodegenerative diseases. J Neurol Neurosurg Psychiatry. 1999;66(5):665-7.
120. Hughes A, Mann D, Pickering-Brown S. Tau haplotype frequency in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Exp Neurol. 2003;181(1):12-6.
121. Panegyres PK, Zafiris-Toufexis K. Polymorphisms in the tau gene in sporadic frontotemporal dementia and other neurodegenerative disorders. Eur J Neurol. 2002;9(5):485-9.
122. Gallo M, Tomaino C, Puccio G, et al. Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia. Neurol Sci. 2010;31(1):65-70.
123. Seelaar H, Rohrer JD, Pijnenburg YAL, Fox NC, van Swieten JC. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J Neurol Neurosurg Psychiatry. 2011 May;82(5):476-86. Epub 2010 Oct 22.