Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237I1e) [1]

Journal of Neurology Neurosurgery and Psychiatry

Volumn 71, Issue 4, 2001, Pages 556-557

  Sodeyama, N ^a   Iwata, T ^a   Ishikawa, K ^a   Mizusawa, H ^a   Yamada, M ^a   Itoh, Y ^a   Otomo, E ^a   Matsushita, M ^a   Komatsuzaki, Y ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; PRESENILIN 1; PRION PROTEIN;

ADULT; ALZHEIMER DISEASE; CASE REPORT; GENE MUTATION; HUMAN; LETTER; MALE; ONSET AGE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPASTIC PARESIS; SYMPTOM;

ADULT; ALZHEIMER DISEASE; BASE SEQUENCE; CODON; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PARAPARESIS, SPASTIC; PRESENILIN-1; REPETITIVE SEQUENCES, AMINO ACID;

EID: 0034813045     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.71.4.556     Document Type: Letter

References (10)

1. Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheilmer's disease pedigress and preliminary evidence for association of presenilin-1 mutations with a novel phenotype
2. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1
3. Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease
4. Japanese case of Creutzfeldt-Jakob disease with a point mutation in the prion protein gene at codon 210
5. Improved direct sequencing of Alzheimer's amyloid precursor protein (APP) exon 16 and 17
6. α2-macroglobulin polymorphism is not associated with AD or AD-type neuropathology in the Japanese
7. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene
8. Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion
9. A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years
10. Variant Alzheimer's disease with spastic paraparesis: Clinical characterization