Lieto, Maria (2019) Next Generation Sequencing in undiagnosed sporadic and inherited ataxias. [Tesi di dottorato]

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Item Type: Tesi di dottorato
Resource language: English
Title: Next Generation Sequencing in undiagnosed sporadic and inherited ataxias
Creators:
CreatorsEmail
Lieto, Marialietomaria@gmail.com
Date: 10 December 2019
Number of Pages: 77
Institution: Università degli Studi di Napoli Federico II
Department: Neuroscienze e Scienze Riproduttive ed Odontostomatologiche
Dottorato: Neuroscienze
Ciclo di dottorato: 32
Coordinatore del Corso di dottorato:
nomeemail
Taglialatela, Mauriziomtaglial@unina.it
Tutor:
nomeemail
Filla, AlessandroUNSPECIFIED
Date: 10 December 2019
Number of Pages: 77
Keywords: NGS; Ataxia
Settori scientifico-disciplinari del MIUR: Area 06 - Scienze mediche > MED/26 - Neurologia
Date Deposited: 07 Jan 2020 11:00
Last Modified: 17 Nov 2021 12:11
URI: http://www.fedoa.unina.it/id/eprint/12967

Collection description

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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