Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

<i>Background</i>: Sialidosis is a rare autosomal recessive disease caused by <i>NEU1</i> mutations, leading to neuraminidase deficiency and accumulation of sialic acid-containing oligosaccharides and glycopeptides into the tissues. Sialidosis is divided into two clinical ent...

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Bibliographic Details
Main Authors: Antonietta Coppola, Marta Ianniciello, Ebru N. Vanli-Yavuz, Settimio Rossi, Francesca Simonelli, Barbara Castellotti, Marcello Esposito, Stefano Tozza, Serena Troisi, Marta Bellofatto, Lorenzo Ugga, Salvatore Striano, Alessandra D’Amico, Betul Baykan, Pasquale Striano, Leonilda Bilo
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Brain Sciences
Subjects:
type-1-sialidosis
myoclonus
brain MRI
cherry-red spot
giant SEP
jerk-locked back averaging analysis
Online Access:https://www.mdpi.com/2076-3425/10/8/506

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https://www.mdpi.com/2076-3425/10/8/506

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