A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease

Annals of Neurology

Volumn 57, Issue 3, 2005, Pages 429-434

  Ishikawa, Atsushi ^a,b   Piao, Yue Shan ^c   Miyashita, Akinori ^c   Kuwano, Ryozo ^c   Onodera, Osamu ^c   Ohtake, Hiroaki ^c   Suzuki, Masahiro ^d   Nishizawa, Masatoyo ^c   Takahashi, Hitoshi ^c  

^a NIIGATA UNIVERSITY   (Japan)

^b National Hospital Organization   (Japan)

^c NIIGATA UNIVERSITY   (Japan)

^d NAGAOKA RED CROSS HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; AMYLOID BETA PROTEIN; PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; ARTICLE; BASE PAIRING; BRAIN CORTEX; BRAIN REGION; CASE REPORT; CLINICAL FEATURE; COTTON WOOL PLAQUE; DEMENTIA; DISEASE ACTIVITY; DISEASE COURSE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; LEWY BODY; MALE; PARKINSONISM; PATHOGENESIS; PRIORITY JOURNAL; PYRAMIDAL TRACT; SENILE PLAQUE; SUBSTANTIA NIGRA; VARIANT ALZHEIMER DISEASE;

ALPHA-SYNUCLEIN; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; BRAIN; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; IMMUNOHISTOCHEMISTRY; LEWY BODY DISEASE; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; NEUROLOGIC EXAMINATION; PRESENILIN-1; SENILE PLAQUES; SYNUCLEINS;

EID: 14844292710     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20393     Document Type: Article

References (20)

1. Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995;375:754-760.
2. Alzheimer's Disease Collaborative Group. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nat Genet 1995;11:219-222.
3. Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995;269:973-977.
4. Rogaev EI, Sherrington R, Rogaeva EA, et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1995;376:775-778.
5. Goate A, Chartier-Harlin M-C, Mullan M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991;349:704-706.
6. Kwok JBJ, Taddei K, Hallupp M, et al. Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. Neuroreport 1997;8:1537-1542.
7. Crook R, Verkkoniemi A, Perez-Tur J, et al. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nature Med 1998;4: 452-455.
8. Verkkoniemi A, Somer M, Rinne JO, et al. Variant Alzheimer's disease with spastic paraparesis. Clinical characterization. Neurology 2000;54:1103-1109.
9. Verkkoniemi A, Kalimo H, Paetau A, et al. Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype. J Neuropathol Exp Neurol 2001;60:483-492.
10. Denson MA, Wszolek ZK, Pfeiffer RF, et al. Familial parkinsonism, dementia, and Lewy body disease: study of family G. Ann Neurol 1997;42:638-643.
11. Wakabayashi K, Hayashi S, Ishikawa A, et al. Autosomal dominant diffuse Lewy body disease. Acta Neuropathol 1998;96: 207-210.
12. Muenter MD, Forno LS, Hornykiewicz O, et al. Hereditary form of parkinsonism-dementia. Ann Neurol 1998;43:768-781.
13. Singleton AB, Farrer M, Johnson J, et al. α-Synuclein locus triplication causes Parkinson's disease. Science 2003;302:841.
14. Farrer M, Kachergus J, Forno L, et al. Comparison of kindreds with parkinsonism and α-synuclein genomic multiplications. Ann Neurol 2004;55:174-179.
15. Zarranz JJ, Alegre J, Gómez-Esteban JC, et al. The new mutation, E46K, of α-synuclein causes parkinson and Lewy body dementia. Ann Neurol 2004;55:164-173.
16. Ishikawa A, Takahashi H, Tanaka H, et al. Clinical features of familial diffuse Lewy body disease. Eur Neurol 1997;38(suppl 1):34-38.
17. Wakabayashi K, Hayashi S, Yoshimoto M, et al. NACP/α-synuclein- positive filamentous inclusions in astrocytes and oligodendrocytes of Parkinson's disease brains. Acta Neuropathol 2000;99:14-20.
18. Braak H, Braak E. Neuropathological staging of Alzheimer-related changes. Acta Neuropathol 1991;82:239-259.
19. McKeith IG, 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.
20. Tomita T, Watabiki T, Takikawa R, et al. The first proline of PALP motif at the C terminus of presenilins is obligatory for stabilization, complex formation, and γ-secretase activities of presenilins. J Biol Chem 2001;276:33273-33281.