17q-Linked Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Without Tau Mutations with Tau and α-Synuclein Inclusions

Archives of Neurology

Volumn 61, Issue 3, 2004, Pages 398-406

  Wilhelmsen, Kirk C ^a,c,e   Forman, Mark S ^b   Rosen, Howard J ^c   Alving, Loren I ^d   Goldman, Jill ^c   Feiger, Jennie ^c   Lee, James V ^a   Segall, Samantha K ^a   Kramer, Joel H ^c   Lomen Hoerth, Catherine ^c   Rankin, Katherine P ^c   Johnson, Julene ^c   Feiler, Heidi S ^a   Weiner, Michael W ^c   Lee, Virginia M Y ^b   Trojanowski, John Q ^b   Miller, Bruce L ^c  

^a UNIVERSITY OF CALIFORNIA SAN FRANCISCO   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; ISOPROTEIN; TAU PROTEIN;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOPSY; CHEMICAL ANALYSIS; CHROMOSOME 17Q; CHROMOSOME ANALYSIS; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; CLINICAL FEATURE; EXTRAPYRAMIDAL SYMPTOM; FAMILIAL DISEASE; FAMILY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; MALE; MOTONEURON; NEUROIMAGING; NEUROPATHOLOGY; NEUROPSYCHOLOGY; PRIORITY JOURNAL; UNITED STATES;

ADULT; AGED; ALPHA-SYNUCLEIN; AMYOTROPHIC LATERAL SCLEROSIS; BLOTTING, WESTERN; BRAIN; CHROMOSOMES, HUMAN, PAIR 17; DEMENTIA; FAMILY HEALTH; FEMALE; HUMANS; INCLUSION BODIES; LINKAGE (GENETICS); LOD SCORE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; POLYMERASE CHAIN REACTION; PROTEIN ISOFORMS; SYNUCLEINS; TAU PROTEINS;

EID: 12144288280     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.61.3.398     Document Type: Article

References (50)

1. Ratnavalli E, Brayne C, Dawson K, Hodges JR. The prevalence of frontotemporal dementia. Neurology. 2002;58:1615-1621.
2. Chow TW, Miller BL, Hayashi VN, Geschwind DH. Inheritance of frontotemporal dementia. Arch Neurol. 1999;56:817-822.
3. Stevens M, van Duijn CM, Kamphorst W, et al. Familial aggregation in frontotemporal dementia. Neurology. 1998;50:1541-1545.
4. Wilhelmsen KC. Frontotemporal dementia genetics. J Geriatr Psychiatry Neurol. 1998;11:55-60.
5. Wilhelmsen KC, Lynch T, Nygaard TG. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet. 1994;55:1159-1165.
6. Foster NL, Wilhelmsen KC, Sima AAF, Jones MZ, D'Amato CJ, Gilman S. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus statement. Ann Neurol. 1997;41:706-715.
7. Spillantini MG, Murrell JR, Goedert M, Farlow MR, Klug A, Ghetti B. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci U S A. 1998;95:7737-7741.
8. Poorkaj P, Bird T, Wijsman E, et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol. 1998;43:815-825.
9. Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature. 1998;393:702-705.
10. Clark LN, Poorkaj P, Wszolek ZK, et al. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related chromosome 17-linked neurodegenerative disorders. Proc Natl Acad Sci U S A. 1998;95:13103-13107.
11. Hong M, Zhukareva V, Vogelsberg-Ragaglia V, et al. Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science. 1998;282:1914-1917.
12. Spillantini MG, Goedert M. Tau protein pathology in neurodegenerative diseases. Trends Neurosci. 1998;21:428-433.
13. Lendon CL, Lynch T, Norton J, et al. Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22. Neurology. 1998;50:1546-1555.
14. Rosso SM, Kamphorst W, de Graaf B, et al. Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain. 2001;124:1948-1957.
15. Zhukareva V, Vogelsberg-Ragaglia V, Van Deerlin VMD, et al. Loss of brain tau defines novel sporadic and familial tauopathies with frontotemporal dementia. Ann Neurol. 2001;49:165-175.
16. Lynch TS, Sano M, Marder KS, et al. Clinical characteristics of a family with chromosome 17-linked disinhibition -dementia-parkinsonism-amyotrophy-complex (DDPAC). Neurology. 1994;44:1878-1884.
17. Boeve BF, Maraganore DM, Parisi JE, et al. Pathologic heterogeneity in clinically diagnosed corticobasal degeneration. Neurology. 1999;53:795-800.
18. Kertesz A, Martinez-Lage P, Davidson W, Munoz DG. The corticobasal degeneration syndrome overlaps progressive aphasia and frontotemporal dementia. Neurology. 2000;55:1368-1375.
19. Lomen-Hoerth C, Anderson T, Miller BL. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology. 2002;59:1077-1079.
20. Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998;51:1546-1554.
21. Boeve BF, Maraganore DM, Parisi JE, et al. Corticobasal degeneration and frontotemporal dementia presentations in a kindred with nonspecific histopathology. Dement Geriatr Cogn Disord. 2002;13:80-90.
22. 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;58:667-677.
23. Janssen JC, Warrington EK, Morris HR, et al. Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation. Neurology. 2002;58:1161-1168.
24. Geschwind DH, Robidoux J, Alarcon M, et al. Dementia and neurodevelopmental predisposition: cognitive dysfunction in presymptomatic subjects precedes dementia by decades in frontotemporal dementia. Ann Neurol. 2001;50:741-746.
25. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989;44:388-396.
26. McPeek MS, Sun L. Statistical tests for detection of misspecified relationships by use of genome-screen data. Am J Hum Genet. 2000;66:1076-1094.
27. O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet. 1998;63:259-266.
28. Sobel E, Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet. 1996;58:1323-1337.
29. Giasson BI, Jakes R, Goedert M, et al. A panel of epitope-specific antibodies detects protein domains distributed throughout human α-synuclein in Lewy bodies of Parkinson's disease. J Neurosci Res. 2000;59:528-533.
30. Giasson BI, Duda JE, Murray IVJ, et al. Oxidative damage linked to neurodegeneration by selective α-synuclein nitration in synucleinopathy lesions. Science. 2000;290:986-989.
31. Greenberg SG, Davies P. A preparation of Alzheimer paired helical filaments that displays distinct tau proteins by polyacrylamide gel electrophoresis. Proc Natl Acad Sci U S A. 1990;87:5827-5831.
32. Goedert M, Jakes R, Vanmechelen E. Monoclonal antibody AT8 recognises tau protein phosphorylated at both serine 202 and threonine 205. Neurosci Lett. 1995;189:167-169.
33. Mercken M, Vandermeeren M, Lubke U, et al. Monoclonal antibodies with selective specificity for Alzheimer tau are directed against phosphatase-sensitive epitopes. Acta Neuropathol (Bert). 1992;84:265-272.
34. Schmidt ML, Carden MJ, Lee VM, Trojanowski JQ. Phosphate dependent and independent neurofilament epitopes in the axonal swellings of patients with motor neuron disease and controls. Lab Invest. 1987;56:282-294.
35. Forman MS, Schmidt ML, Kasturi S, Perl DP, Lee VM, Trojanowski JQ. Tau and α-synuclein pathology in amygdala of Parkinsonism-dementia complex patients of Guam. Am J Pathol. 2002;160:1725-1731.
36. Kosik KS, Orecchio LD, Binder L, Trojanowski JQ, Lee VM, Lee G. Epitopes that span the tau molecule are shared with paired helical filaments. Neuron. 1988;1:817-825.
37. 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;58:1803-1809.
38. McKeith LG, Galasko D, Kosaka K, et al. Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the Consortium on DLB international workshop. Neurology. 1996;47:1113-1124.
39. Dickson DW, Bergeron C, Chin SS, et al. Office of Rare Diseases neuropathologic criteria for corticobasal degeneration. J Neuropathol Exp Neurol. 2002;61:935-946.
40. Jellinger KA. Dementia with grains (argyrophilic grain disease). Brain Pathol. 1998;8:377-386.
41. Morton NE. Sequential tests for detection of linkage. Am J Hum Genet. 1955;7:277-318.
42. Rosso SM, Kamphorst W, de Graaf B, et al. Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain. 2001;124:1948-1957.
43. Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis: Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors. J Neurol Sci. 1994;124(suppl):96-107.
44. Geschwind DH, Robidoux J, Alarcon M, et al. Dementia and neurodevelopmental predisposition: cognitive dysfunction in presymptomatic subjects precedes dementia by decades in frontotemporal dementia. Ann Neurol. 2001;50:741-746.
45. Woulfe J, Kertesz A, Munoz DG. Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions. Acta Neuropathol (Berl). 2001;102:94-102.
46. Dickson DW, Bergeron C, Chin SS, et al. Office of Rare Diseases neuropathologic criteria for corticobasal degeneration. J Neuropathol Exp Neurol. 2002;61:935-946.
47. Jellinger KA. Dementia with grains (argyrophilic grain disease). Brain Pathol. 1998;8:377-386.
48. Trojanowski JQ. Tauists, Baptists, Syners, Apostates, and new data. Ann Neurol 2002;52:263-265.
49. Iseki E, Togo T, Suzuki K, et al. Dementia with Lewy bodies from the perspective of tauopathy. Acta Neuropathol (Berl). 2003;105:265-270.
50. Duda JE, Giasson BI, Mabon ME, et al. Concurrence of alpha-synuclein and tau brain pathology in the Contursi kindred. Acta Neuropathol (Bert). 2002;104:7-11.