Familial amyloid polyneuropathy with genetic anticipation associated to a gly47glu transthyretin variant in an Italian kindred
| Autor: | Franca Gori, Francesca Torricelli, Gabriele Castelli, Elisabetta Pelo, Ciaccheri M, A. Pizzi, G. Marconi, Luigi Da Prato |
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| Rok vydání: | 2002 |
| Předmět: |
Adult
Male medicine.medical_specialty Amyloid Glycine Cardiomyopathy Glutamic Acid medicine.disease_cause Exon Internal medicine Internal Medicine Humans Point Mutation Prealbumin Medicine Amino Acid Sequence Amyloid Neuropathies Familial Mutation Base Sequence biology business.industry Point mutation nutritional and metabolic diseases DNA Middle Aged medicine.disease Pedigree Transthyretin Endocrinology Peripheral neuropathy Italy Immunology biology.protein Female Age of onset business |
| Zdroj: | Amyloid. 9:35-41 |
| ISSN: | 1744-2818 1350-6129 |
| DOI: | 10.3109/13506120209072443 |
| Popis: | The most frequent localization of amyloid in transthyretin (TTR) mutations is in the peripheral nerve, causing familial amyloidpolyneuropathy (FAP). It is generally accompanied by involvement of other organs such as the myocardium and kidney. To date, over 70 TTR point mutations have been reported in literature, with different phenotypes depending on the location of the mutation in the TTR gene. This paper deals with a point mutation in exon 2 position 47 of the TTR gene, encoding the substitution of glycine with glutamate. The mutation was found in an Italian family with 5 patients over 3 generations. The phenotype was characterised by peripheral neuropathy and autonomic dysfunction, associated in some patients with cardiomyopathy and renal involvement. The symptoms were very severe and the patients did not survive long, thus suggesting the aggressive nature of the pathological process. Moreover, in the succeeding generations of this family, there was genetic anticipation in the age of onset of the disease. |
| Databáze: | OpenAIRE |
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