Lieto, Maria (2019) Next Generation Sequencing in undiagnosed sporadic and inherited ataxias. [Tesi di dottorato]
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| Tipologia del documento: | Tesi di dottorato |
|---|---|
| Lingua: | English |
| Titolo: | Next Generation Sequencing in undiagnosed sporadic and inherited ataxias |
| Autori: | Autore Email Lieto, Maria lietomaria@gmail.com |
| Data: | 10 Dicembre 2019 |
| Numero di pagine: | 77 |
| Istituzione: | Università degli Studi di Napoli Federico II |
| Dipartimento: | Neuroscienze e Scienze Riproduttive ed Odontostomatologiche |
| Dottorato: | Neuroscienze |
| Ciclo di dottorato: | 32 |
| Coordinatore del Corso di dottorato: | nome email Taglialatela, Maurizio mtaglial@unina.it |
| Tutor: | nome email Filla, Alessandro [non definito] |
| Data: | 10 Dicembre 2019 |
| Numero di pagine: | 77 |
| Parole chiave: | NGS; Ataxia |
| Settori scientifico-disciplinari del MIUR: | Area 06 - Scienze mediche > MED/26 - Neurologia |
| Depositato il: | 07 Gen 2020 11:00 |
| Ultima modifica: | 17 Nov 2021 12:11 |
| URI: | http://www.fedoa.unina.it/id/eprint/12967 |
Abstract
Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia. In many patients it is not possible to reach a genetic conclusion. In the past few years, the introduction in everyday genetic diagnostic process of innovative approaches, such as Next Generation Sequencing (NGS), has revolutioned the paradigm of clinical diagnostics defining the disease mutation in affected patients and putting end to their “diagnostic odyssey". Here, we use NGS strategies (Target Resequencing Panel, Exome Sequencing, Whole Genome Sequencing) to define the molecular characterization of a cohort of 120 patients with undiagnosed ataxia. To date, we found confirmed pathogenic variants in 55 analyzed patients. Mutations were identified in a broad range of genes implicated in ataxia and related neurologic diseases.
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