TY - JOUR
T1 - Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice
AU - Galatolo, Daniele
AU - Trovato, Rosanna
AU - Scarlatti, Arianna
AU - Rossi, Salvatore
AU - Natale, Gemma
AU - De Michele, Giovanna
AU - Barghigiani, Melissa
AU - Cioffi, Ettore
AU - Filla, Alessandro
AU - Bilancieri, Giusi
AU - Casali, Carlo
AU - Santorelli, Filippo M.
AU - Silvestri, Gabriella
AU - Tessa, Alessandra
PY - 2023
Y1 - 2023
N2 - Hereditary spastic paraplegia (HSP) refers to a group of heterogeneous neurological disorders mainly characterized by corticospinal degeneration (pure forms), but sometimes associated with additional neurological and extrapyramidal features (complex HSP). The advent of next-generation sequencing (NGS) has led to huge improvements in knowledge of HSP genetics and made it possible to clarify the genetic etiology of hundreds of "cold cases," accelerating the process of reaching a molecular diagnosis. The different NGS-based strategies currently employed as first-tier approaches most commonly involve the use of targeted resequencing panels and exome sequencing, whereas genome sequencing remains a second-tier approach because of its high costs. The question of which approach is the best is still widely debated, and many factors affect the choice. Here, we aim to analyze the diagnostic power of different NGS techniques applied in HSP, by reviewing 38 selected studies in which different strategies were applied in different-sized cohorts of patients with genetically uncharacterized HSP.
AB - Hereditary spastic paraplegia (HSP) refers to a group of heterogeneous neurological disorders mainly characterized by corticospinal degeneration (pure forms), but sometimes associated with additional neurological and extrapyramidal features (complex HSP). The advent of next-generation sequencing (NGS) has led to huge improvements in knowledge of HSP genetics and made it possible to clarify the genetic etiology of hundreds of "cold cases," accelerating the process of reaching a molecular diagnosis. The different NGS-based strategies currently employed as first-tier approaches most commonly involve the use of targeted resequencing panels and exome sequencing, whereas genome sequencing remains a second-tier approach because of its high costs. The question of which approach is the best is still widely debated, and many factors affect the choice. Here, we aim to analyze the diagnostic power of different NGS techniques applied in HSP, by reviewing 38 selected studies in which different strategies were applied in different-sized cohorts of patients with genetically uncharacterized HSP.
KW - Hereditary spastic paraplegia (HSP)
KW - Multigene panel
KW - Whole-genome sequencing (WGS)
KW - Targeted resequencing panel (TRP)
KW - Whole-exome sequencing (WES)
KW - Next-generation sequencing (NGS)
KW - Hereditary spastic paraplegia (HSP)
KW - Multigene panel
KW - Whole-genome sequencing (WGS)
KW - Targeted resequencing panel (TRP)
KW - Whole-exome sequencing (WES)
KW - Next-generation sequencing (NGS)
UR - http://hdl.handle.net/10807/252997
U2 - 10.1007/s10048-023-00717-9
DO - 10.1007/s10048-023-00717-9
M3 - Article
SN - 1364-6745
VL - 24
SP - 147
EP - 160
JO - Neurogenetics
JF - Neurogenetics
ER -