A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)

Brain

Volumn 122, Issue 4, 1999, Pages 741-756

  Bird, Thomas D ^a,b,c,g   Nochlin, David ^a   Poorkaj, Parvoneh ^c   Cherrier, Monique ^c   Kaye, Jeffrey ^d   Payami, Haydeh ^d,e   Peskind, Elaine ^b,c   Lampe, Thomas H ^b,c   Nemens, Ellen ^c   Boyer, Philip J ^f   Schellenberg, Gerard D ^a,b,c  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g GRECC   (United States)

Author keywords

Frontotemporal dementia; Mutations; Tau

Indexed keywords

APOLIPOPROTEIN E; TAU PROTEIN;

ADULT; AGED; ARTICLE; AUTOPSY; BEHAVIOR; BRAIN ATROPHY; BRAIN STEM; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE DURATION; ENVIRONMENTAL FACTOR; EXON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENOTYPE; HEREDITY; HUMAN; HUMAN TISSUE; LANGUAGE; MALE; MISSENSE MUTATION; NEUROFIBRILLARY TANGLE; NEUROPATHOLOGY; ONSET AGE; PATHOLOGY; PICK PRESENILE DEMENTIA; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY;

AGE OF ONSET; APOLIPOPROTEINS E; ATROPHY; DEMENTIA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; FRONTAL LOBE; GENOTYPE; HIPPOCAMPUS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL STATUS SCHEDULE; MICROSCOPY, ELECTRON; MIDDLE AGED; NEUROFIBRILLARY TANGLES; NEURONS; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PHENOTYPE; POINT MUTATION; TAU PROTEINS; TEMPORAL LOBE;

EID: 0032897924     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/122.4.741     Document Type: Article

References (45)

1. Albert M, Cohen C. The Test for Severe Impairment: an instrument for the assessment of patients with severe cognitive dysfunction. J Am Geriatr Soc 1992; 40: 449-53.
2. Bird TD, Wijsman, E. Nochlin, D. Leehey M, Sumi SM, Payami H, et al. Chromosome 17 and hereditary dementia: linkage studies with three non-Alzheimer families and kindreds with late-onset FAD. Neurology 1997; 48: 949-54.
3. Cherrier MM, Mendez MF, Perryman K, Pachana NA, Miller BL, Cummings JL. Frontotemporal dementia versus vascular dementia: differential features on mental status examination. J Am Geriatr Soc 1997; 45: 579-83.
4. Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, et al. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proc Natl Acad Sci USA 1998; 95: 13103-7.
5. Conrad C, Andreadis A, Trojanowski JQ, Dickson DW, Kang D, Chen X, et al. Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol 1997; 41: 277-81.
6. Delacourte A, Sergeant N, Wattez A, Gauvreau D, Robitaille Y, et al. Vulnerable neuronal subsets in Alzheimer's and Pick's disease are distinguished by their tau isoform distribution and phosphorylation. Ann Neurol 1998; 43: 193-204.
7. Dickson, DW. Pick's disease: a modern approach. [Review]. Brain Pathol 1998; 8: 339-54.
8. Dumanchin C, Camuzat A, Campion D, Verpillat P, Mannequin D, Dubois B, et al. Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. Hum Mol Gen 1998; 7: 1825-9.
9. Feany MB, Dickson DW. Neurodegenerative disorders with extensive tau pathology: a comparative study and review. [Review]. Ann Neurol 1996; 40: 139-48.
10. 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: 189-98.
11. Foster NL, Wilhelmsen K, Anders AF, Sima AA, Jones MZ, D' Amato CJ, Gilman S. Frontotemporal dementia and Parkinsonism linked to chromosome 17: a consensus conference. [Review], Ann Neurol 1997; 41: 706-15.
12. Group TNCN. Neurobehavioral cognitive status examination. Fairfax (CA): Northern California Neurobehavioral Group; 1998.
13. Hasegawa M, Smith MJ, Goedert M. Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly. FEBS Lett 1998; 437: 207-10.
14. Heutink P, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, et al. Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. Ann Neurol 1997; 41: 150-9.
15. Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hhal. J Lipid Res 1990; 31: 545-8.
16. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, et al. Association of missense and 5′-splice site mutations in tau with the inherited dementia FTDP-17. Nature 1998; 393: 702-5.
17. Kaplan E, Goodglass H, Weintraub S. The Boston Naming Test. Philadelphia: Lea & Febiger; 1983.
18. Lynch T, Sano M, Marder KS, Bell, KL, Foster NL, Defendini RF, et al. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex [see comments]. Neurology 1994; 44: 1878-84. Comment in: Neurology 1994; 44: 1980.
19. Lynch T, Sano M, Marder KS, Bell, KL, Foster NL, Defendini RF, et al. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex [see comments]. Neurology 1994; 44: 1878-84. Comment in: Neurology 1994; 44: 1980.
20. Mattis S. Dementia Rating Scale. Odessa (FL): Psychological Assessment Resources; 1988.
21. Mendez MF, Cherrier M, Ferryman KM, Pachana N, Miller BL, Cummings JL, et al. Frontotemporal dementia versus Alzheimer's disease: differential cognitive features. Neurology 1996; 47: 1189-94.
22. Mirra SS, Heyman A, McKeel D, Sumi SM, Crain BJ, Brownlee LM, et al. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 1991; 41: 479-86.
23. Osterrieth PA. Le test de copie d'une figure complexe: contribution a l'étude de la perception et de la memoire. Arch Psychol 1944; 30: 206-353.
24. Pachana NA, Boone KB, Miller BL, Cummings JL, Berman N, et al. Comparison of neuropsychological and neurobehavioral functioning in Alzheimer's disease and frontotemporal dementia. J Int Neuropsychol Soc 1996; 2: 505-10.
25. Pick A. Uber die Beziehungen der senilen Hirnatrophie zur Aphasie. Prag Med Wschr 1892; 17: 165-7.
26. Poorkaj P, Bird TD, Wijsman E, Nemens E, Garutto RM, Anderson L, et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 1998; 43: 815-25.
27. Raven JC, Court JH, Raven J. Manual for Raven's progressive matrices. London: H.K. Lewis; 1976.
28. Read SL, Miller BL, Mena I, Kim R, Itabashi H, Darby A, et al. SPECT in dementia: clinical and pathological correlation. J Am Geriatr Soc 1995; 43: 1243-7.
29. Reitan RM. Validity of the Trail Making Test as an indicator of organic brain damage. Percept Mot Skills 1985; 19: 199-206.
30. Reitan RM. Instructions and procedures for administrating the psychological test battery used at the Neuropsychology Laboratory. Indianapolis (IN): Indiana University Medical Center; No date.
31. Risberg J, Passant U, Warkentin S, Gustafson L. Regional cerebral blood flow in frontal dementia of the non-Alzheimer type. Dementia 1993; 4: 186-7.
32. Rizzu P, van Swieten JC, Joossee M, Hasegawa M, Stevens M, Tibben A, et al. High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Gen 1999; 64: 414-21.
33. Roses AD. Apolipoprotein E affects the rate of Alzheimer disease expression: β-amyloid burden is a secondary consequence dependent on APOE genotype and duration of disease [see comments]. [Review]. J Neuropathol Exp Neurol 1994; 53: 429-37. Comment in: J Neuropathol Exp Neurol 1994; 53: 427-8.
34. Roses AD. Apolipoprotein E affects the rate of Alzheimer disease expression: β-amyloid burden is a secondary consequence dependent on APOE genotype and duration of disease [see comments]. [Review]. J Neuropathol Exp Neurol 1994; 53: 429-37. Comment in: J Neuropathol Exp Neurol 1994; 53: 427-8.
35. Saxton J, McGonigle KL, Swihart AA, et al. The Severe Impairment Battery. Bury St. Edmonds: Thames Valley Test Company; 1993.
36. Snowden JS, Neary D, Mann DMA. Pronto-temporal lobar degeneration: fronto-temporal dementia, progressive aphasia, semantic dementia. New York: Churchill Livingstone; 1996.
37. Spillantini MG, Goedert M, Crowther RA, Murrell JR, Farlow MR, Ghetti B, 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: 4113-8.
38. Spillantini MG, Bird TD, Ghetti B. Frontotemporal dementia and parkinsonism linked to chromosome 17: a new group of tauopathies. [Review]. Brain Pathol 1998a; 8: 387-402.
39. Spillantini MG, Murrell JR, Goedert M, Farlow MR, Klug A, Ghetti B, et al. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 1998b; 95: 7737-41.
40. Spillantini MG, Crowther RA, Kamphorst W, Heutink P, van Swieten JC. Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau. Am J Path 1998c; 153: 1359-63.
41. Sumi SM, Bird TD, Nochlin D, Raskind MA, et al. Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala. Neurology 1992; 42: 120-7.
42. Tsuang D, Raskind MA, Leverenz J, Peskind ER, Schellenberg G, Bird TD, et al. The effect of apolipoprotein E genotype on expression of an autosomal dominant schizophreniform disorder with progressive dementia and neurofibrillary tangles. Biol Psychiatry 1997; 41: 191-5.
43. Welsh KA, Butters N, Mohs RC, Beekly D, Edland S, Fillenbaum G, et al. The consortium to establish a registry in Alzheimer's Disease (CERAD). Part V. A normative study of the neuropsychological battery. Neurology 1994; 44: 609-14.
44. Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG, et al. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 1994; 55: 1159-65.
45. Wszolek ZK, Pfeiffer RF, Bhatt MH, Schelper RL, Cordes M, Snow BJ, et al. Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann Neurol 1992; 32: 312-20.