Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation
| Autor: | Ricardo E. Jorge, Eduardo M. Castaño, Ekaterina Rogaeva, Peter St George-Hyslop, K. Hamid El Hachimi, Robert G. Robinson, Amalia C. Bruni, Carlos Perandones, Carlos A. Mangone, Jean-François Foncin |
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| Rok vydání: | 2000 |
| Předmět: |
Male
Pathology medicine.medical_specialty DNA Mutational Analysis Mutation Missense Pedigree chart Biology Genetic determinism Presenilin Alzheimer Disease Genotype medicine Presenilin-1 Missense mutation Humans Point Mutation Genetics Reverse Transcriptase Polymerase Chain Reaction Point mutation Membrane Proteins Middle Aged Phenotype Temporal Lobe Pedigree Psychiatry and Mental health Mutation (genetic algorithm) Neurology (clinical) |
| Zdroj: | The Journal of neuropsychiatry and clinical neurosciences. 12(3) |
| ISSN: | 0895-0172 |
| Popis: | At least 30 different missense mutations have been identified within the presenilin 1 (PS1) gene in pedigrees transmitting familial Alzheimer's disease. The authors investigated the clinical and pathological features of affected members of two pedigrees segregating a PS1 Met146Leu mutation. Genetic relationships between these pedigrees can be effectively excluded on the basis of genealogical data and the fact that although the amino acid substitution is identical, the nucleotide mutations are different. The clinical picture shows remarkable similarities in the neurological and the neuropathological findings between the two pedigrees. This general clinical and pathological concordance argues that much of the disease phenotype arises directly from the effects of the amino acid substitution within the PS1 protein itself. Clinical differences could arise from a direct effect of the difference in base sequence or, alternatively, from the effect of genetic or environmental modifiers. |
| Databáze: | OpenAIRE |
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