Tozza, Stefano (2022) Optimizing diagnosis and follow-up of hereditary transthyretin amyloidosis (hATTR). [Tesi di dottorato]
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| Tipologia del documento: | Tesi di dottorato |
|---|---|
| Lingua: | English |
| Titolo: | Optimizing diagnosis and follow-up of hereditary transthyretin amyloidosis (hATTR) |
| Autori: | Autore Email Tozza, Stefano ste.tozza@gmail.com |
| Data: | 8 Dicembre 2022 |
| Numero di pagine: | 60 |
| Istituzione: | Università degli Studi di Napoli Federico II |
| Dipartimento: | Medicina Clinica e Chirurgia |
| Dottorato: | Neuroscienze |
| Ciclo di dottorato: | 35 |
| Coordinatore del Corso di dottorato: | nome email Taglialatela, Maurizio mtaglial@unina.it |
| Tutor: | nome email Manganelli, Fiore [non definito] |
| Data: | 8 Dicembre 2022 |
| Numero di pagine: | 60 |
| Parole chiave: | TTR amyloidosis; early diagnosis; outcome measure. |
| Settori scientifico-disciplinari del MIUR: | Area 06 - Scienze mediche > MED/26 - Neurologia |
| Depositato il: | 20 Dic 2022 10:50 |
| Ultima modifica: | 09 Apr 2025 14:03 |
| URI: | http://www.fedoa.unina.it/id/eprint/14695 |
Abstract
The current work is focused on Hereditary transthyretin amyloidosis (hATTR), a rare genetic disease with autosomal dominant inheritance caused by mutations in the gene encoding the transthyretin (TTR) protein, characterized by a progressive and disabling course and, if untreated, a lethal disease. The first aim of my PhD thesis (AIM #1) has been to optimize the diagnosis of hATTR neuropathy through a compound diagnostic score in order to increase the suspicion of hATTR neuropathy and thus shorten the diagnostic delay. The second aim (AIM #2) was to improve the follow-up of hATTR patient by creating a specific evaluation score for hATTR disease, drawn on disease peculiarities, that may be able to assess neurological disability, sensitive in identifying changes in the disease progression and quick and easy to apply in the daily clinical practice.
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