RGD Reference Report - Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations. - Rat Genome Database

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Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations.

Authors: Ikeuchi, T  Kaneko, H  Miyashita, A  Nozaki, H  Kasuga, K  Tsukie, T  Tsuchiya, M  Imamura, T  Ishizu, H  Aoki, K  Ishikawa, A  Onodera, O  Kuwano, R  Nishizawa, M 
Citation: Ikeuchi T, etal., Dement Geriatr Cogn Disord. 2008;26(1):43-9. doi: 10.1159/000141483. Epub 2008 Jun 28.
RGD ID: 10412701
Pubmed: PMID:18587238   (View Abstract at PubMed)
DOI: DOI:10.1159/000141483   (Journal Full-text)

BACKGROUND: Three major causative genes have been implicated as the cause of early-onset familial Alzheimer's disease (AD): the amyloid precursor protein gene (APP), presenilin-1 (PSEN1) and PSEN2. Although rare, a tau-related dementia with mutations in the microtubule-associated protein tau gene (MAPT) has been identified in patients showing clinical presentations similar to those of AD. METHODS: We performed mutational analysis of APP, PSEN1, PSEN2, and MAPT in 10 Japanese families with early-onset dementia clinically diagnosed as probable Alzheimer's disease. RESULTS: In 4 index patients, we identified 4 missense PSEN1 mutations, namely, L286V, G378E, L381V, and L392V. The mean age at onset in the patients with PSEN1 mutations was 39 years. In 2 families, we found the R406W mutation in MAPT. The mean age at onset of the patients carrying the R406W mutation was 52 years, and they presented with the peculiar AD-like phenotype without apparent behavioral or language problems. CONCLUSION: These observations suggest that although PSEN1 mutations are the most frequent cause, the MAPT R406W mutation is an important cause of early-onset familial dementia clinically diagnosed as AD. Differentiation of patients with the MAPT mutation from AD patients by genetic testing would be meaningful, considering that a different therapeutic approach should be applied.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Alzheimer's disease onsetIAGP 10412701DNA:mutation:cds:p.R406W(human)RGD 
Alzheimer's disease onsetISOMAPT (Homo sapiens)10412701; 10412701DNA:mutation:cds:p.R406W(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mapt  (microtubule-associated protein tau)

Genes (Mus musculus)
Mapt  (microtubule-associated protein tau)

Genes (Homo sapiens)
MAPT  (microtubule associated protein tau)


Additional Information