FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation

Annals of Neurology

Volumn 46, Issue 5, 1999, Pages 708-715

  Sperfeld, Anne D ^a   Collatz, Michael B ^a   Baier, Hartmut ^a   Palmbach, Markus ^a   Storch, Alexander ^a   Schwarz, Johannes ^a   Tatsch, Klaus ^b   Reske, Sven ^a   Joosse, Marijke ^c   Heutink, Peter ^c   Ludolph, Albert C ^a  

^a UNIVERSITY OF ULM   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DNA; PROLINE; SERINE; TAU PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; DNA DETERMINATION; DOPAMINERGIC ACTIVITY; ELECTROENCEPHALOGRAM; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PRESYNAPTIC NERVE; PRIORITY JOURNAL; SEIZURE; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

ADULT; AGE OF ONSET; AGED; AMINO ACID SUBSTITUTION; BRAIN; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; DEMENTIA; DISEASE PROGRESSION; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; FRONTAL LOBE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PARKINSON DISEASE; PEDIGREE; PHENOTYPE; TAU PROTEINS; TEMPORAL LOBE; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 0032724611     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199911)46:5<708::AID-ANA5>3.0.CO;2-K     Document Type: Article

References (25)

1. Heutink P, Stevens JM, Rizzu P, et al. Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. Ann Neurol 1997;41:150-159
2. Lendon CL, Lynch T, Norton J, et al. Hereditary dysphasic disinhibition dementia. Neurology 1998;50:1546-1555
3. Petersen RB, Tabaton M, Chen SG, et al. Familial progressive subcortical gliosis. Neurology 1995;45:1062-1067
4. Wijker M, Wszolek ZK, Wolters ECH, et al. Localization of the gene for rapidly progressive autosomal parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet 1998;5:151-154
5. The Lund and Manchester Groups. Clinical and neuropathological criteria for frontotemporal dementia. J Neurol Neurosurg Psychiatry 1994;57:416-418
6. Foster NL, Wilhelmsen KC, Sima AAF, conference participants. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Ann Neurol 1997;41: 706-715
7. Hardy J, Duff K, Hardy KG, et al. Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau. Nat Neurosci 1998;1:355-358
8. 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
9. Baker M, Kwok JBJ, Kucera S, et al. Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22. Ann Neurol 1997;42:794-798
10. Basun H, Almkvist O, Axelman K, et al. Clinical characteristics of a chromosome 17-linked rapidly progressive familial frontotemporal dementia. Arch Neurol 1997;54:539-544
11. Poorkaj P, Bird TD, Wijsman E, et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 1998;43:815-825
12. Wilhelmsen KC, Lynch T, Pavlou E. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 1994;55:1159-1165
13. Conrad C, Andreadis A, Trojanowski J, et al. Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol 1997;47:277-281
14. 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
15. Lynch T, Sano M, Marder KS, et al. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology 1994;44:1878-1884
16. Mori H, Nishimura M, Namba Y, Oda M. Corticobasal degeneration: a disease with widespread appearance of abnormal tau and neurofibrillary tangles, and its relation to progressive supranuclear palsy. Acta Neuropathol 1994;88:113-121
17. Pasquier F, Delacourte A. Non-Alzheimer degenerative dementias. Curr Opin Neurol 1998;11:417-427
18. Tatsch K, Schwarz J, Mozley PD, et al. Relationship between clinical features of Parkinson's disease and presynaptic dopamine transporter binding assessed with [1-123] IPT and SPECT. Eur J Nucl Med 1997;24:415-421
19. Tatsch K, Schwarz J, Oertel WH, Kirsch CM. SPECT imaging of dopamine D2 receptors with 123I-IBZM: initial experiences in controls and patients with Parkinson syndromes and Wilsons disease. Nucl Med Commun 1991;12:699-701
20. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215 (Letter)
21. Rizzu P, van Swieten JC, Joosse M, 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 Genet 1999;64:414-421
22. Goedert M, Spillantini MG, Jakes R, et al. Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 1989;3:519-526
23. Schaumburg HH, Suzuki K. Non-specific presenile dementia. J Neurol Neurosurg Psychiatry 1968;31:479-486
24. Stevens M, van Duijn CM, Kamphorst W, et al. Familial aggregation in frontotemporal dementia. Neurology 1998;50: 1541-1545
25. Wszolek ZK, Pfeiffer RF, Bhatt MH, et al. Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann Neurol 1992;32:312-320