Rapidly progressive amyloid polyneuropathy associated with a novel variant transthyretin serine 25
| Autor: | Masahide Yazaki, Merrill D. Benson, Taro Yamashita, John R. Scott, John C. Kincaid, Raymond G. Auger, Peter J. Dyck |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Proband
Amyloid Time Factors Physiology Germline mosaicism medicine.disease_cause Cellular and Molecular Neuroscience Sural Nerve Physiology (medical) medicine Humans Prealbumin Amino Acid Sequence Transversion Genetics Mutation Amyloid Neuropathies Familial biology Base Sequence Amyloidosis Haplotype Genetic Variation DNA Middle Aged medicine.disease Pedigree Transthyretin Amyloid Neuropathy Haplotypes biology.protein Disease Progression Female Neurology (clinical) Polymorphism Restriction Fragment Length |
| Zdroj: | Musclenerve. 25(2) |
| ISSN: | 0148-639X |
| Popis: | We report a 52-year-old woman with a novel transthyretin (TTR) variant serine replacing alanine at residue 25 [Ala25Ser (Serine 25)], who showed a unique clinical picture with a relatively acute onset neuropathy within a few days of an influenza vaccination, progressing to a severe degree within 2 years. Sural nerve biopsy revealed amyloid deposition in the endoneurium. Sequencing of the proband's DNA revealed a G to T transversion at the first position of codon 25 of TTR gene. DNA analysis of this family showed the same mutation in her older sister and a niece, but her parents did not have the mutation. Haplotype analysis revealed the mutation to be clearly linked to haplotype III allele inherited from the proband's father. These results indicate this novel Serine 25 mutation originated in the paternal germline mosaicism. It is possible that the vaccination had an influence on the unique clinical picture, but this remains uncertain. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text