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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MDPI AG
2020-08-01
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Online Access: | https://www.mdpi.com/2076-3425/10/8/506 |
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record_format |
Article |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
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 |
spellingShingle |
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 Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients Brain Sciences type-1-sialidosis myoclonus brain MRI cherry-red spot giant SEP jerk-locked back averaging analysis |
author_facet |
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 |
author_sort |
Antonietta Coppola |
title |
Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients |
title_short |
Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients |
title_full |
Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients |
title_fullStr |
Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients |
title_full_unstemmed |
Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients |
title_sort |
diagnosis and management of type 1 sialidosis: clinical insights from long-term care of four unrelated patients |
publisher |
MDPI AG |
series |
Brain Sciences |
issn |
2076-3425 |
publishDate |
2020-08-01 |
description |
<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 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. <i>Case presentations</i>: 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. <i>Discussion and conclusions</i>: 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. |
topic |
type-1-sialidosis myoclonus brain MRI cherry-red spot giant SEP jerk-locked back averaging analysis |
url |
https://www.mdpi.com/2076-3425/10/8/506 |
work_keys_str_mv |
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doaj-72dbf755f270407ea2ff1dac4ec3a8e62020-11-25T03:31:01ZengMDPI AGBrain Sciences2076-34252020-08-011050650610.3390/brainsci10080506Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated PatientsAntonietta Coppola0Marta Ianniciello1Ebru N. Vanli-Yavuz2Settimio Rossi3Francesca Simonelli4Barbara Castellotti5Marcello Esposito6Stefano Tozza7Serena Troisi8Marta Bellofatto9Lorenzo Ugga10Salvatore Striano11Alessandra D’Amico12Betul Baykan13Pasquale Striano14Leonilda Bilo15Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, ItalyDepartment of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, ItalyDepartment of Neurology, Clinical Neurophysiology Unit, Faculty of Medicine, Istanbul University, 34116 Istanbul, TurkeyEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania L. Vanvitelli, 80131 Naples, ItalyEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania L. Vanvitelli, 80131 Naples, ItalyUnit of Genetic of Neurodegenerative and Metabolic diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milano, ItalyDepartment of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, ItalyDepartment of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, ItalyDepartment of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, ItalyDepartment of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, ItalyDepartment of Advanced Biomedical Sciences, Federico II University, 80131 Naples, ItalyDepartment of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, ItalyDepartment of Advanced Biomedical Sciences, Federico II University, 80131 Naples, ItalyDepartment of Neurology, Clinical Neurophysiology Unit, Faculty of Medicine, Istanbul University, 34116 Istanbul, TurkeyDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16147 Genoa, ItalyDepartment of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, Italy<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 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. <i>Case presentations</i>: 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. <i>Discussion and conclusions</i>: 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.https://www.mdpi.com/2076-3425/10/8/506type-1-sialidosismyoclonusbrain MRIcherry-red spotgiant SEPjerk-locked back averaging analysis |