Molecular evidence of presenilin 1 mutation in familial early onset dementia

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 114, Issue 3, 2002, Pages 292-298

  Matsubara Tsutsui, Miho ^a   Yasuda, Minoru ^b   Yamagata, Hidehisa ^a   Nomura, Takuo ^a   Taguchi, Keiko ^a   Kohara, Katsuhiko ^a   Miyoshi, Koho ^b   Miki, Tetsuro ^a  

^a EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Hyogo Institute for Aging Brain and Cognitive Disorders   (Japan)

Author keywords

Apraxia; G266S; Missense mutation; Presenilin 1; Spastic paraparesis; Variant Alzheimer disease

Indexed keywords

GLYCINE; PRESENILIN 1; SERINE;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; APRAXIA; ARTICLE; CODON; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FEMALE; GENDER; GENE DELETION; GENE ISOLATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR GENETICS; ONSET AGE; PREDICTION; PRESENILE DEMENTIA; PRIORITY JOURNAL; PSEN1 GENE; SPASTIC PARAPLEGIA;

ADULT; AGE OF ONSET; ALZHEIMER DISEASE; AMINO ACID SEQUENCE; BASE SEQUENCE; DEMENTIA; DNA; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; PRESENILIN-1; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0037041304     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.10250     Document Type: Article

References (41)

1. Atypical Alzheimer disease with spastic paresis and ataxia
2. A case of Alzheimer disease with unusual neurological disturbances
3. Phenotypic heterogeneity in familial Alzheimer disease: A study of 24 kindreds
4. Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau
5. Mutations of the presenilin gene in families with early-onset Alzheimer disease
6. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer disease in late onset families
7. An unusual type of presenile dementia (atypical Alzheimer disease with amyloid vascular change)
8. A variant of Alzheimer disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1
9. Atypical dementia and spastic paraplegia in a patient with primary lateral sclerosis and numerous neocortical beta amyloid plaques: New disorder or Alzheimer disease variant?
10. Growth of abnormal neurites in atypical Alzheimer disease. A study with the Golgi method
11. 'Mini-mental state.' A practical method for grading the cognitive state of patients for the clinician
12. Alzheimer disease. Presentation of a case with pathologic and enzymatic-histochemical observations
13. An unusual case of presenile dementia with numerous argentophilic plaques and severe amyloid vascular changes
14. Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer disease?
15. ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer disease families
16. Variant Alzheimer disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations
17. Complete analysis of the presenilin 1 gene in early onset Alzheimer disease
18. Increased A beta 42(43)-plaque deposition in early-onset familial Alzheimer disease brains with the deletion of exon 9 and the missense point mutation (H163R) in the PS-1 gene
19. Isolated case of juvenile Alzheimer disease with recurrent myoclonus and the presence of amyloid plaques and grumose alteration in the cerebellum
20. Alzheimer disease- the so-called juvenile type
21. Two novel M233T and R278T presenilin-1 mutations in early-onset Alzheimer disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype
22. Candidate gene for the chromosome 1 familial Alzheimer disease locus
23. Ueber die familiare juvenile form der alzheimerschen krankheit mit neurologischen herderscheinungen
24. A case of encephalopathy with plaque-like bodies, neurofibrillary change, angiopathy and amyotrophic lateral sclerosis-like lesions
25. A mutation in Alzheimer disease destroying a splice accepter site in the presenilin-1 gene
26. The basal ganglia and apraxia
27. Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer disease
28. Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer disease
29. APP-717, APP-693, and PRIP gene mutations are rare in Alzheimer disease
30. Alzheimer disease: Genes, proteins, and therapy
31. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer disease
32. Spastic tetraplegia as an initial manifestation of familial Alzheimer disease
33. Apolipoprotein E: High-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease
34. Sur les formes familiales precoces de la maladie d'Alzheimer
35. Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer disease
36. Variant Alzheimer disease with spastic paraparesis: Clinical characterization
37. A stop-codon mutation in the BRI gene associated with familial British dementia
38. Familial presenile dementia with spastic paralysis
39. A form of familial presenile dementia with spastic paralysis including the pathological examination of a case
40. A form of familial dementia with spastic paralysis
41. α1-Antichymotrypsin as a risk modifier for late onset Alzheimer disease in Japanese apolipoprotein E ε4 carriers