| Autor: |
Vincenzo Di Stefano, Pietro Guaraldi, Francesca Giglia, Ilaria Cani, Antonia Pignolo, Luca Codeluppi, Paolo Alonge, Elena Canali, Giovanni De Lisi, Ada Maria Florena, Eugenia Borgione, Filippo Brighina |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Brain Sciences, Vol 14, Iss 6, p 519 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2076-3425 |
| DOI: |
10.3390/brainsci14060519 |
| Popis: |
Hereditary transthyretin amyloidosis (hATTR) is a multisystemic, rare, inherited, progressive and adult-onset disease, affecting the sensory-motor nerves, heart, autonomic function, and other organs. There are over 130 mutations known in the TTR gene. The His90Asn mutation has been previously reported in several reports, but its pathogenetic role is still debated. We report two sporadic cases of adult women with a heterozygous His90Asn mutation in TTR gene and neurological involvement extensively investigated. A typical Congo red-positive pathologic deposition of amyloid fibrils in the salivary glands was documented in one subject. Patients were successfully treated with patisiran with a good clinical outcome. These data support a pathogenetic role of His90Asn mutation in hATTR, and suggest early treatment in symptomatic carriers of His90Asn mutation. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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