Cargando…

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement

Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal neuraminidase catalyzes the removal of terminal sialic acid molecules from glycolipids, glycoproteins and oligosaccharides. Sialidosis i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mohammad, Ahmed N., Bruno, Katelyn A., Hines, S., Atwal, Paldeep S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047061/ https://www.ncbi.nlm.nih.gov/pubmed/30023283 http://dx.doi.org/10.1016/j.ymgmr.2017.12.005

Ejemplares similares

Myoclonus generators in sialidosis
por: Vial, Felipe, et al.
Publicado: (2022)

Ataxia and Myoclonus with a Cherry-Red Spot Unfurling an Unusual Phenotypic Presentation of Sialidosis Type 1
por: Mukherjee, Debaleena, et al.
Publicado: (2021)

Myoclonus in Ataxia–Telangiectasia
por: Termsarasab, Pichet, et al.
Publicado: (2015)

Looking “Cherry Red Spot Myoclonus” in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1
por: Riboldi, Giulietta M., et al.
Publicado: (2021)

Ascites in infantile onset type II Sialidosis
por: Tazi, Kaoutar, et al.
Publicado: (2022)

Sialidosis type I presenting with a novel mutation and advanced neuroimaging features
por: Gultekin, Murat, et al.
Publicado: (2018)

Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II
por: Eyskens, Margot, et al.
Publicado: (2023)

Seizure remission and improvement of neurological function in sialidosis with perampanel therapy
por: Hu, Su-Ching, et al.
Publicado: (2018)

A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine
por: Ahuja, Abhimanyu S., et al.
Publicado: (2019)

Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm
por: Mohammad, Ahmed, et al.
Publicado: (2018)

Opsoclonus-myoclonus-ataxia syndrome in an AIDS patient
por: Vale, Thiago Cardoso, et al.
Publicado: (2013)

Myoclonus and Cerebellar Ataxia Following COVID‐19
por: Dijkstra, Femke, et al.
Publicado: (2020)

Myoclonus-Ataxia Syndrome Associated with COVID-19
por: Shetty, Kuldeep, et al.
Publicado: (2021)

Ataxia as Forme Fruste of Opsoclonus Myoclonus Ataxia Syndrome
por: Dhawan, Sumeet R., et al.
Publicado: (2020)

Opsoclonus–myoclonus–ataxia syndrome in an HIV-infected child
por: Pereira, Noella Maria Delia, et al.
Publicado: (2016)

Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction
por: Macklin, Sarah K., et al.
Publicado: (2020)

Hematopoietic cell transplantation for sialidosis type I
por: Gupta, Ashish O., et al.
Publicado: (2021)

Myoclonus ataxia and refractory coeliac disease
por: Sarrigiannis, Ptolemaios G, et al.
Publicado: (2014)

Spectral optical coherence tomography in a patient with type I sialidosis
por: Michalewska, Zofia, et al.
Publicado: (2011)

Optical coherence tomography features in a case of Type I sialidosis
por: Wang, I-Hua, et al.
Publicado: (2017)

Reversible Myoclonus‐Ataxia as a Postinfectious Manifestation of COVID‐19
por: Schellekens, Mijntje M.I., et al.
Publicado: (2020)

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I
por: Mosca, Rosario, et al.
Publicado: (2020)

Bergmeister’s papilla in a young patient with type 1 sialidosis: case report
por: Rossi, Settimio, et al.
Publicado: (2020)

NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?
por: Riboldi, Giulietta M., et al.
Publicado: (2022)

Post–COVID‐19 Myoclonus–Ataxia Syndrome Responsive to Intravenous Immunoglobulins
por: Godani, Massimiliano, et al.
Publicado: (2022)

Clinical Responses to Rituximab in a Case of Neuroblastoma with Refractory Opsoclonus Myoclonus Ataxia Syndrome
por: Alavi, Samin, et al.
Publicado: (2012)

Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C
por: Koens, L. H., et al.
Publicado: (2016)

Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?
por: Neeraja, Koti, et al.
Publicado: (2021)

Legionnaire’s disease presenting with encephalitis, myoclonus, and seizures: Successful treatment with doxycycline
por: Cunha, Burke A., et al.
Publicado: (2019)

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer
por: Gass, Jennifer, et al.
Publicado: (2017)

Familial segmental spinal myoclonus: a rare clinical feature of Friedreich’s ataxia
por: Jain, Rajendra Singh, et al.
Publicado: (2015)

Opsoclonus myoclonus ataxia syndrome in severe acute respiratory syndrome coronavirus-2
por: Fernandes, João, et al.
Publicado: (2021)

Progressive myoclonus ataxia: Time for a new definition?
por: van der Veen, Sterre, et al.
Publicado: (2018)

Post COVID Acute Cerebellar Ataxia and Myoclonus (ACAM)
por: Maramattom, Boby Varkey, et al.
Publicado: (2022)

Clinical and genetic characteristics of type I sialidosis patients in mainland China
por: Lv, Rui‐Juan, et al.
Publicado: (2020)

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1
por: Han, Xiaoxu, et al.
Publicado: (2020)

Spinal segmental myoclonus as an unusual presentation of multiple sclerosis
por: Alroughani, Raed Abdullah, et al.
Publicado: (2015)

Acute Ataxia and Myoclonus in COVID-19: A Case Series
por: Sundar, Uma S., et al.
Publicado: (2021)

Opsoclonus myoclonus ataxia syndrome following COVID-19 infection
por: Ismail, Ismail Ibrahim, et al.
Publicado: (2022)

Ataxia Myoclonus Syndrome in Mild Acute COVID-19 Infection
por: Rodriguez-Quiroga, Sergio, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_bpejfi4a64qv20eph8qrkkhcum