Molecular evidence of presenilin 1 mutation in familial early onset dementia
| Autor: | Keiko Taguchi, Tetsuro Miki, Minoru Yasuda, Hidehisa Yamagata, Takuo Nomura, Katsuhiko Kohara, Koho Miyoshi, Miho Matsubara-Tsutsui |
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| Rok vydání: | 2002 |
| Předmět: |
Adult
Male DNA Mutational Analysis Molecular Sequence Data Mutation Missense Presenilin Exon Fatal Outcome Degenerative disease Alzheimer Disease Presenilin-1 PSEN1 medicine Humans Missense mutation Amino Acid Sequence Age of Onset Genetics (clinical) Genetics Base Sequence Sequence Homology Amino Acid business.industry Membrane Proteins DNA Middle Aged medicine.disease Pedigree Mutation Mutation (genetic algorithm) Dementia Female Age of onset Alzheimer's disease business |
| Zdroj: | American Journal of Medical Genetics. 114:292-298 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.10250 |
| Popis: | Early onset familial Alzheimer disease (FAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent. We reported previously a variant form of FAD, due to deletion of exon 9 of PSEN1, with spastic paralysis and rigidity. We describe a novel PSEN1 mutation in a family of Japanese origin with six affected individuals of both genders in two generations. The disease is characterized by presenile dementia, which is preceded by spastic paraparesis and apraxia. This mutation, which is predicted to cause a missense substitution of serine for glycine, occurred at codon 266 in exon 8 of PSEN1. The mutation was not found in 200 controls and 200 sporadic AD patients. On this basis alone, it seems this mutation is pathogenic. Our findings provide a new clue to the etiology of the familial early onset dementia. |
| Databáze: | OpenAIRE |
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