Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family

Journal of Neurology

Volumn 250, Issue 6, 2003, Pages 733-740

  Lossos, Alexander ^a   Reches, Avinoam ^a   Gal, Aya ^a   Newman, Joel P ^a   Soffer, Dov ^a   Gomori, John Moshe ^a   Boher, Moshe ^a   Ekstein, Dana ^a   Biran, Iftah ^a   Meiner, Zeev ^a   Abramsky, Oded ^a   Rosenmann, Hanna ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Frontotemporal dementia; Parkinsonism; Tau

Indexed keywords

FLUORODEOXYGLUCOSE F 18; HEXAMETHYLPROPYLENE AMINE OXIME TECHNETIUM TC 99M;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN ATROPHY; BRAIN BIOPSY; BRAIN PERFUSION; BRAIN TOMOGRAPHY; BRAIN VENTRICLE; CASE REPORT; CHROMOSOME 17Q; CLINICAL FEATURE; COGNITIVE DEFECT; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; EUROPE; EXON; FAMILY; FEMALE; FRONTAL LOBE; FRONTOTEMPORAL DEMENTIA; GAZE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HUMAN; HUMAN TISSUE; HYPOKINESIA; IMMUNOREACTIVITY; JAPAN; JEW; MALE; MOTOR DYSFUNCTION; NEUROPSYCHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PATHOGENESIS; PERSONALITY DISORDER; PHENOTYPE; PRIORITY JOURNAL; RIGIDITY; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; STEREOTYPY; TAU GENE;

ADULT; ALGERIA; CEREBRAL CORTEX; DEMENTIA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; JEWS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; PARKINSONIAN DISORDERS; PEDIGREE; PROLINE; SERINE; TAU PROTEINS; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 0038796582     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-003-1074-4     Document Type: Article

References (35)

1. Arima K, Kowalska A, Hasegawa M, Mukoyama M, Watanabe R, Kawai M, et al. (2000) Two brothers with frontotemporal dementia and parkinsonism with an N279 mutation of the tau gene. Neurology 54:1787-1795
2. Bird TD, Nochlin D, Poorkaj P, Cherrier M, Kaye J, Payami H, et al. (1999) A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L). Brain 122:741-756
3. Buguiani O, Murrell JR, Giaccone G, Hasegawa M, Ghigo G, Tabaton M, et al. (1999) Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J Neuropathol Exp Neurol 58:667-677
4. Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, et al. (1998) Pathogenic implications of mutations in the tau gene in pallidoponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proc Natl Acad Sci USA 95:13103-13107
5. Folstein MF, Folstein SE, McHugh PR (1975) "Mini-Mental State": a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12:189-198
6. Foster NL, Wilhelmsen K, Sima AF, Jones MZ, D'Amato CJ, Gilman S, et al. (1997) Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Ann Neurol 41:706-715
7. Goedert M, Jakes R, Crowther RA (1999) Effects of frontotemporal dementia FTDP-17 mutations on heparin-induced assembly of tau filaments. FEBS Lett 450:306-311
8. Goedert M, Spillantini MG, Crowther RA, Chen SG, Prchi P, Tabaton M, et al. (1999) Tau gene mutation in familial progressive subcortical gliosis. Nat Med 5:454-457
9. Hasegawa M, Smith MJ, Goedert M (1998) Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly. FEBS Lett 437:207-210
10. Heutink P (2000) Understanding taurelated dementia. Hum Mol Genet 9:979-986
11. Heutink P, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, et al. (1997) Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathologic study of three Dutch families. Ann Neurol 41:150-159
12. Houlden H, Baker M, Adamson J, Grover A, Waring S, Dickson D, et al. (1999) Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. Ann Neurol 46:243-248
13. Hulette CM, Earl NL, Crain BJ (1992) Evaluation of cerebral biopsies for the diagnosis of dementia. Arch Neurol 49:28-31
14. Hulette CM, Pericak-Vance MA, Roses AD, Schmechel DE, Yamaoka LH, Gaskell PC, et al. (1999) Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke family 1684. J Neuropathol Exp Neurol 58:859-866
15. Javedan SP, Tamargo RJ (1997) Diagnostic yield of brain biopsy in neurodegenerative disorders. Neurosurgery 41:823-830
16. Knopman DS, Mastri AR, Frey II WH, Sung JH, Rustan T (1990) Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia. Neurology 40:251-256
17. Lee VM-Y, Goedert M, Trojanowski JQ (2001) Neurodegenerative tauopathies. Ann Rev Neurosci 24:1121-1159
18. Lezak MD (1995) Neuropsychological assessment. 3rd ed. Oxford University Press, New York
19. Lynch T, Sano M, Marder KS, Bell KL, Foster NL, Defendini RF, et al. (1994) Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology 44:1878-1884
20. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
21. Miyamoto K, Kowalska A, Hasegawa M, Tabira T, Takahashi K, Araki W, et al. (2001) Familial frontotemporal dementia and parkinsonism with a novel mutation at intron 10 + 11-splice site in the tau gene. Ann Neurol 50:117-120
22. Morris HR, Khan MN, Janssen JC, Brown JM, Perez-Tur J, Baker M, et al. (2001) The genetic and pathological classification of familial frontotemporal dementia. Arch Neurol 58:1813-1816
23. Murrell JR, Koller D, Foroud T, Goedert M, Spillantini MG, Edenberg HJ, et al. (1997) Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17. Am J Hum Genet 61:1131-1138
24. Poorkaj P, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, et al. (1998) Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 43:815-825
25. Poorkaj P, Grossman M, Steinbart E, Payami H, Sadovnick A, Nochlin D, et al. (2001) Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch Neurol 58:383-387
26. Reed LA, Wszolek ZK, Hutton M (2001) Phenotypic correlations in FTDP-17. Neurobiol Aging 22:89-107
27. Rizzu P, Van Swieten JC, Joosse M, Hasegawa M, Stevens M, Tibben A, et al. (1999) High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet 64:414-421
28. Sperfeld AD, Collatz MB, Baier H, Palmbach M, Storch A, Schwartz J, et al. (1999) FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. Ann Neurol 46:708-715
29. Spillantini MG, Bird TD, Ghetti B (1998) Frontotemporal dementia and parkinsonism linked to chromosome 17: a new group of tauopathies. Brain Pathol 8:387-402
30. Spillantini MG, Van Swieten JC, Goedert M (2000) Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP- 17). Neurogenetics 2:193-205
31. Van Swieten JIC, Stevens M, Rosso SM, Rizzu P, Joosse M, de Koning I, et al. (1999) Phenotypic variation in hereditary frontotemporal dementia with tau mutations. Ann Neurol 46:617-626
32. Wechsler D (1981) Manual for the Wechsler Adult Intelligence Scale-Revised. The Psychological Corp, New York
33. Wszolek ZK, Lynch T, Wilhelmsen KC (1997) Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration (PPND) and disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) are clinically distinct conditions that are both linked to 17q21-22. Parkinsonism Rel Disord 3:67-76
34. Yasuda M, Kawamata T, Komure O, Kuno S, D'Souza I, Poorkaj P, et al. (1999) A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. Neurology 53:864-868
35. Yasuda M, Yokoyama K, Nakayasu T, Nishimura Y, Matsui M, Yokoyama T, et al. (2000) A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation. Neurology 55:1224-1227