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The role of the neurologist in the diagnostic route of HSP and cerebellar ataxias in the next generation sequencing era: A single center experience

2021; Elsevier BV; Volume: 429; Linguagem: Inglês

10.1016/j.jns.2021.118282

1878-5883

Vittorio Riso, Salvatore Rossi, Tommaso Nicoletti, Alessandra Tessa, Lorena Travaglini, Ginevra Zanni, Chiara Aiello, Alessia Perna, Melissa Barghigiani, Maria Grazia Pomponi, Filippo M. Santorelli, Gabriella Silvestri,

Hereditary Neurological Disorders

The molecular characterization of Hereditary Spastic Paraplegias (HSP) and inherited cerebellar ataxias (CA) is challenged by their clinical and molecular heterogeneity. The recent application of NGS technologies is increasing the diagnostic rate, which can be also influenced by patients' selection.