The genetic causes of neurodegenerative diseases

Journal of Alzheimer's Disease

Volumn 3, Issue 1, 2001, Pages 109-116

  Hardy, J ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; SYNUCLEIN; TAU PROTEIN;

ALZHEIMER DISEASE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; NERVE DEGENERATION; NEUROPATHOLOGY; NONHUMAN; PARKINSON DISEASE; PICK PRESENILE DEMENTIA; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; REVIEW;

EID: 0035081161     PISSN: 13872877     EISSN: None     Source Type: Journal    
DOI: 10.3233/JAD-2001-3115     Document Type: Review

References (38)

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2. Genetic evidence for the involvement of tau in progressive supranuclear palsy
3. Acceleration of oligomerization, not fibrillization, is a shared property of both alpha-synuclein mutations linked to early-onset Parkinson's disease: Implications for pathogenesis and therapy
4. Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala → Gly mutation
5. A variant of Alzheimer's disease with spastic paraparesis and "cotton wool plaques" due to deletion of exon 9 of the presenilin 1 gene
6. A presenilin-1-dependent gammasecretase-like protease mediates release of Notch intracellular domain
7. A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor
8. A susceptibility locus for Parkinson's disease maps to chromosome 2p13
9. Gerstmann - Straussler - Scheinker disease and the Indiana kindred
10. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
11. Filamentous nerve cell inclusions in neurodegenerative diseases
12. 5′ Splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10
13. Plaque-only Alzheimer disease is usually the Lewy body variant, and vice versa
14. Amyloid, the presenilins and Alzheimer's disease
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16. Pathways to primary neurodegenerative disease
17. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene
18. ApoE genotype and Alzheimer's disease
19. Association of missense and splice site mutations in tau with the inherited dementia FTDP-17
20. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease
21. Lewy bodies in the brain of two members of a family with the 717 (Val to Ile) mutation of the amyloid precursor protein gene
22. Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene
23. Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type
24. Candidate gene for the chromosome I familial Alzheimer's disease locus
25. Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes
26. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene
27. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
28. Tau is a candidate gene for chromosome 17 frontotemporal dementia
29. Prions
30. Antisense-induced reduction of presenilin 1 expression selectively increases the production of amyloid β 42 in transfected calls
31. Immunization with amyloid-beta attenuates Alzheimer-disease-like pathology in the PDAPP mouse
32. Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease
33. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
34. A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling
35. An increased percentage of long amyloid β protein secreted by familial amyloid β protein precursor (βAPP717) mutants
36. A stop-codon mutation in the BRI gene associated with familial British dementia
37. A decamer duplication in the 3' region of the BRI gene originates a new amyloid peptide that is associated with dementia in a Danish kindred
38. Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity