NGS in Hereditary Ataxia: When Rare Becomes Frequent.

doi:10.3390/ijms22168490

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Article

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

International journal of molecular sciences - 6 Aug 2021

Galatolo Daniele, De Michele Giovanna, Silvestri Gabriella, Leuzzi Vincenzo, Casali Carlo, Musumeci Olimpia, Antenora Antonella, Astrea Guja, Barghigiani Melissa, Battini Roberta, Battisti Carla, Caputi Caterina, Cioffi Ettore, De Michele Giuseppe, Dotti Maria Teresa, Fico Tommasina, Fiorillo Chiara, Galosi Serena, Lieto Maria, Malandrini Alessandro, Melone Marina A B, Mignarri Andrea, Natale Gemma, Pegoraro Elena, Petrucci Antonio, Ricca Ivana, Riso Vittorio, Rossi Salvatore, Rubegni Anna, Scarlatti Arianna, Tinelli Francesca, Trovato Rosanna, Tedeschi Gioacchino, Tessa Alessandra, Filla Alessandro, Santorelli Filippo Maria

Abstract excerpt

The term hereditary ataxia (HA) refers to a heterogeneous group of neurological disorders with multiple genetic etiologies and a wide spectrum of ataxia-dominated phenotypes. Massive gene analysis in next-generation sequencing has entered the HA scenario, broadening our genetic and clinical knowledge of these conditions. In this study, we employed a targeted resequencing panel (TRP) in a large and highly...

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PMID: 34445196
DOI: 10.3390/ijms22168490
PMCID: PMC8395181

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