The D178N (cis-129M) 'fatal familial insomnia' mutation associated with diverse clinicopathologic phenotypes in an Australian kindred
| Autor: | Catriona McLean, R.J.M. Gardner, Patrick O. Brown, A. E. G. Tannenberg, Larisa Cervenakova, Elsdon Storey |
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| Rok vydání: | 1997 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Ataxia Prions animal diseases Prion Diseases Atrophy Autosomal dominant cerebellar ataxia mental disorders Genotype medicine Humans Fatal familial insomnia Genetics Cerebellar ataxia business.industry Genetic heterogeneity Australia Brain Middle Aged medicine.disease Pedigree nervous system diseases Phenotype Gliosis Mutation Female Neurology (clinical) medicine.symptom business Ireland |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.49.2.552 |
| Popis: | Fatal familial insomnia (FFI) is an inherited prion disease characterized by progressive insomnia and dysautonomia with only modest cognitive impairment early in the disease, associated with atrophy and gliosis in the medial thalamus, but without spongiform change. FFI is associated with an aspartic acid to asparagine mutation at codon 178 of the PrP gene (D178N) in conjunction with methionine at the codon 129 polymorphic site on the mutant allele (cis-129M). We report a pedigree with this genotype in which marked clinicopathologic phenotypic heterogeneity occurred including typical Creutzfeldt-Jakob disease, FFI, and what was thought to be an autosomal dominant cerebellar ataxia (ADCA)-like-illness, suggesting that the genotype-phenotype correlation is not as tight for this mutation as is frequently supposed. |
| Databáze: | OpenAIRE |
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