Diagnosis and management of type 1 sialidosis: Clinical insights from long-term care of four unrelated patients

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

Research output: Contribution to journalArticlepeer-review


Background: Sialidosis is a rare autosomal recessive disease caused by NEU1 mutations, leading to neuraminidase deficiency and accumulation of sialic acid-containing oligosaccharides and glycopeptides into the tissues. Sialidosis is divided into two clinical entities, depending on residual enzyme activity, and can be distinguished according to age of onset, clinical features, and progression. Type 1 sialidosis is the milder, late-onset form, also known as non-dysmorphic sialidosis. It is commonly characterized by progressive myoclonus, ataxia, and a macular cherry-red spot. As a rare condition, the diagnosis is often only made after few years from onset, and the clinical management might prove difficult. Furthermore, the information in the literature on the long-term course is scarce. Case presentations: We describe a comprehensive clinical, neuroradiological, ophthalmological, and electrophysiological history of four unrelated patients affected by type 1 sialidosis. The long-term care and novel clinical and neuroradiological insights are discussed. Discussion and conclusions: We report the longest follow-up (up to 30 years) ever described in patients with type 1 sialidosis. During the course, we observed a high degree of motor and speech disability with preserved cognitive functions. Among the newest antiseizure medication, perampanel (PER) was proven to be effective in controlling myoclonus and tonic–clonic seizures, confirming it is a valid therapeutic option for these patients. Brain magnetic resonance imaging (MRI) disclosed new findings, including bilateral gliosis of cerebellar folia and of the occipital white matter. In addition, a newly reported variant (c.914G > A) is described.

Original languageEnglish
Article number506
Pages (from-to)1-17
Number of pages17
JournalBrain Sciences
Issue number8
Publication statusPublished - Aug 2020


  • Brain MRI
  • Cherry-red spot
  • Giant SEP
  • Jerk-locked back averaging analysis
  • Myoclonus
  • Type-1-sialidosis

ASJC Scopus subject areas

  • Neuroscience(all)


Dive into the research topics of 'Diagnosis and management of type 1 sialidosis: Clinical insights from long-term care of four unrelated patients'. Together they form a unique fingerprint.

Cite this