TY - JOUR
T1 - Diagnosis and management of type 1 sialidosis
T2 - Clinical insights from long-term care of four unrelated patients
AU - Coppola, Antonietta
AU - Ianniciello, Marta
AU - Vanli-Yavuz, Ebru N.
AU - Rossi, Settimio
AU - Simonelli, Francesca
AU - Castellotti, Barbara
AU - Esposito, Marcello
AU - Tozza, Stefano
AU - Troisi, Serena
AU - Bellofatto, Marta
AU - Ugga, Lorenzo
AU - Striano, Salvatore
AU - D’amico, Alessandra
AU - Baykan, Betul
AU - Striano, Pasquale
AU - Bilo, Leonilda
N1 - Funding Information:
The investigations of the third case were supported by the Istanbul University Research Fund TOA-2019-33450. We thank the patients and their families for giving us permission to report their history. We also thank Anna Catone and Elvira Nicolella for the neurophysiology technical support. P.S. developed this work within the framework of the DINOGMI, Department of Excellence of MIUR 2018-2022 (Legge 232 del 2016). The collaboration of Genetic Commission of Italian League Against Epilepsy (LICE) is also kindly acknowledged.
Funding Information:
Funding: The investigations of the third case were supported by the Istanbul University Research Fund TOA-2019-33450.
Publisher Copyright:
© 2020 by the authors. Licensee MDPI, Basel, Switzerland.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/8
Y1 - 2020/8
N2 - 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.
AB - 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.
KW - Brain MRI
KW - Cherry-red spot
KW - Giant SEP
KW - Jerk-locked back averaging analysis
KW - Myoclonus
KW - Type-1-sialidosis
UR - http://www.scopus.com/inward/record.url?scp=85090643427&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85090643427&partnerID=8YFLogxK
U2 - 10.3390/brainsci10080506
DO - 10.3390/brainsci10080506
M3 - Article
AN - SCOPUS:85090643427
VL - 10
SP - 1
EP - 17
JO - Brain Sciences
JF - Brain Sciences
SN - 2076-3425
IS - 8
M1 - 506
ER -