Hereditary dysphasic disinhibition dementia. A frontotemporal dementia linked to 17q21-22

Neurology

Volumn 50, Issue 6, 1998, Pages 1546-1555

  Lendon, Corinne L ^a,c   Lynch, T ^b   Norton, J ^a   McKeel Jr , D W ^a   Busfield, F ^a   Craddock, N ^a,c   Chakraverty, S ^a   Gopalakrishnan, G ^a   Shears, S D ^a   Grimmett, W ^a   Wilhelmsen, K C ^d   Hansen, L ^e   Morris, J C ^a   Goate, A M ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b New York State Psychiat Inst and New York Presbyterian Hospital Columbia University Medical Center   (United States)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UCSD MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 17Q; DEMENTIA; DYSPHASIA; FRONTAL LOBE; GENE MUTATION; HUMAN; HUMAN TISSUE; PHENOTYPE; PRIORITY JOURNAL; TEMPORAL LOBE;

EID: 0031799683     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.50.6.1546     Document Type: Article

References (47)

1. Lendon CL, Ashall F, Goate AM. Exploring the etiology of Alzheimer's disease using molecular genetics. JAMA 1997; 277:825-831.
2. Brown J, Ashworth A, Gydesen S, et al. Familial non-specific dementia maps to chromosome 3. Hum Mol Genet 1995;4: 1625-1628.
3. Wilhelmsen KC, Lynch T, Pavlou E, et al. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 1994;55:1159-1165.
4. Foster NL, Wilhelmsen K, Sima AA, et al. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Ann Neurol 1997;41:706-715.
5. Morris JC, Cole M, Banker BQ, et al. Hereditary dysphasic dementia and the Pick-Alzheimer spectrum. Ann Neurol 1984; 16:455-466.
6. Silverman JM, Raiford K, Edlund S, et al. The consortium to establish a registry for Alzheimer's disease (CERAD). Part VI. Family history assessment: a multicenter study of relatives of first degree-relatives of AD probands and nondemented spouse controls. Neurology 1994;44:1253-2159.
7. Folstein MF, Folstein SE, McHugh PR. Mini-Mental State: a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-198.
8. Adroer R, Chartier-Harlin MC, Crawford F, et al. Improved direct sequencing of Alzheimer's amyloid precursor protein (APP) exons 16 and 17. Neurosci Lett 1992;141:69-71.
9. Palmer MS, Dryden AD, Hughes TJ, et al. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 1991;352:340-342.
10. Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome. Nature 1992;359:794-801.
11. Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994;7:246-339.
12. Schwengel DA, Jedlicka AE, Nanthakumar EJ, et al. Comparison of fluorescence-based semi-automated genotyping of multiple microsatellite loci with autoradiographic techniques. Genomics 1994;22:46-54.
13. Talbot C, Lendon CL, Craddock N, et al. Protection against Alzheimer's disease with apoE epsilon 2. Lancet 1994;343: 1432-1433.
14. Wragg M, Hutton M, Talbot C, et al. Genetic association between an intronic polymorphism in the presenilin-1 gene and late onset Alzheimer's disease. Lancet 1996;347:509-512.
15. Lathrop G, Lalouel JM, Julier C, et al. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-3446.
16. Ploughman LM, Boehnke M. Estimating the power of a proposed linkage study for a complex genetic trait. Am J Hum Genet 1989;44:543-551.
17. Hibbard LS, Arnicar-Sulze TL, McKeel DW Jr, et al. Computed detection and quantitative morphometry of Alzheimer senile plaques. J Neurosci Methods 1994;52:175-189.
18. Braak H, Braak E. Demonstration of amyloid deposits and neurofibrillary changes in whole brain sections. Brain Pathol 1991;1:213-216.
19. Gown AM, de Wever N, Battifora H. Microwave-based antigenie unmasking: a revolutionary new technique for routine immunohistochemistry. Appl Immunohistochem 1993;1:256-266.
20. McKeel DW Jr, Ball MJ, Price JL, et al. Interlaboratory histopathologic assessment of Alzheimer neuropathology: different methodologies yield comparable diagnostic results. Alzheimer Dis Assoc Disord 1993;7:136-151.
21. Berg L, McKeel DW Jr, Miller JP, et al. Neuropathologic indexes of Alzheimer's disease in demented and nondemented people aged 80 years and older. Arch Neurol 1993;50:349-358.
22. Morris JC, Storandt M, McKeel DW Jr, et al. Cerebral amyloid deposition and diffuse plaques in "normal" aging: evidence for presymptomatic and very mild Alzheimer's disease. Neurology 1996;46:707-719.
23. Dark F. A family with autosomal dominant, non-Alzheimer's presenile dementia. Aust NZ J Psychiatry 1997;31:139-144.
24. Baker M, Kwok BJ, Kucera S, et al. Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22. Ann Neurol 1997;42:794-798.
25. Heutink P, Stevens M, Rizzu P, et al. Hereditary frontotemporal dementia is linked to chromosome 17q21-22: a genetic and clinico-pathological study of three Dutch families. Ann Neurol 1996;41:150-159.
26. Khachaturian ZS. Diagnosis of Alzheimer's disease. Arch Neurol 1985;42:1097-1105.
27. Braak E, Braak H, Mandelkow EM. A sequence of cytoskeletal changes related to the formation of neurofibrillary tangles and neuropil threads. Acta Neuropathologica 1994b;87:554-567.
28. Murayama S, Arima K, Nakazato Y, et al. Immunocytochemical and ultrastructural studies of neuronal and oligodendroglial cytoplasmic inclusions in multiple system atrophy. 2. Oligodendroglial cytoplasmic inclusions. Acta Neuropathologica 1992;84:32-38.
29. Feaney MB, Dickson DW. Widespread cytoskeletal pathology characterizes corticobasal degeneration. Am J Pathol 1995; 146:1388-1396.
30. Bergeron C, Pollanen MS, Weyer L, et al. Cortical degeneration in progressive supranuclear palsy: a comparison with cortical-basal ganglionic degeneration. J Neuropathol Exp Neurol 1997;56:726-734.
31. 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;55:97-105.
32. Chin SS, Goldman JE. Glial inclusions in CNS degenerative diseases. J Neuropathol Exp Neurol 1996;55:499-508.
33. Kalus P, Braak H, Braak E, et al. The presubicular region in Alzheimer's disease: topography of amyloid deposits and neurofibrillary changes. Brain Res 1989;494:198-203.
34. Akiyama H, Tago H, Itagaki S, et al. Occurrence of diffuse amyloid deposits in the presubicular parvopyramidal layer in Alzheimer's disease. Acta Neuropathologica 1990;79:537-44.
35. Braak H, Braak E. Neuropathological staging of Alzheimer-related changes. Acta Neuropathologica 1991;82:239-259.
36. Minthon L, Hesse C, Sjogren M, et al. The apolipoprotein E epsilon4 allele frequency is normal in frontotemporal dementia, but correlates with age of onset of disease. Neurosci Lett 1997;226:65-67.
37. Stevens M, van Duijn CM, de Knijff P, et al. Apolipoprotein E gene and sporadic frontal lobe dementia. Neurology 1997;48: 1526-1529.
38. Wijker M, Wszolek ZK, Wolters ECH, et al. Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet 1996;5:151-154.
39. Petersen RB, Tabaton M, Chen SG, et al. Familial progressive subcortical gliosis: presence of prions and linkage to chromosome 17. Neurology 1995;45:1062-1067.
40. Spillantini MG, Goedert M, Crowther RA, et al. Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments. Proc Natl Acad Sci USA 1997;94:4113-4118.
41. Murrell JR, Koller D, Foroud T, et al. Familial multiple system tauopathy with presenile dementia is localized to chromosome 17. Am J Hum Genet 1997;61:1131-1138.
42. Yamaoka LH, Welsh-Bohmer KA, Hulette CM, et al. Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. Am J Hum Genet 1996;59:1306-1312.
43. Bird TD, Wijsman EM, Nochlin D, et al. Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD. Neurology 1997; 48:949-954.
44. Sumi SM, Bird TD, Nochlin D, et al. Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala. Neurology 1992;42: 120-127.
45. Sima AA, Defendini R, Keohane C, et al. The neuropathology of chromosome 17-linked dementia. Ann Neurol 1996;39:734-743.
46. Hsiao K, Baker HF, Crow TJ, et al. Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome. Nature 1989;338:342-345.
47. Poulter M, Baker HF, Frith CD, et al. Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies. Brain 1992;115:675-685.