Cargando…

A case of motor neuron involvement in Gaucher disease

Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive weakening of the limbs followed by upper motor neuron...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pozzilli, V., Giona, F., Ceccanti, M., Cambieri, C., Frasca, V., Onesti, E., Libonati, L., Di Bari, S., Fiorini, I., Cardarelli, L., Santopietro, M., Inghilleri, M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895677/ https://www.ncbi.nlm.nih.gov/pubmed/31844629 http://dx.doi.org/10.1016/j.ymgmr.2019.100540

Ejemplares similares

Creatine Kinase and Progression Rate in Amyotrophic Lateral Sclerosis
por: Ceccanti, Marco, et al.
Publicado: (2020)

Effects of Skin Stimulation on Sensory-Motor Networks Excitability: Possible Implications for Physical Training in Amyotrophic Lateral Sclerosis
por: Ceccanti, Marco, et al.
Publicado: (2022)

Dysphagia in Amyotrophic Lateral Sclerosis: Impact on Patient Behavior, Diet Adaptation, and Riluzole Management
por: Onesti, Emanuela, et al.
Publicado: (2017)

Effects of 3,4-diaminopyridine on myasthenia gravis: Preliminary results of an open-label study
por: Ceccanti, Marco, et al.
Publicado: (2022)

Classical and Unexpected Effects of Ultra-Micronized PEA in Neuromuscular Function
por: Cifelli, Pierangelo, et al.
Publicado: (2022)

A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation
por: Ceccanti, Marco, et al.
Publicado: (2016)

The Silent Period for Small Fiber Sensory Neuropathy Assessment in a Mixed Cohort of Transthyretin-Mediated Amyloidosis
por: Cambieri, Chiara, et al.
Publicado: (2022)

Laryngeal Sensitivity in Patients with Amyotrophic Lateral Sclerosis
por: Ruoppolo, Giovanni, et al.
Publicado: (2016)

Neuromuscular magnetic stimulation counteracts muscle decline in ALS patients: results of a randomized, double-blind, controlled study
por: Musarò, Antonio, et al.
Publicado: (2019)

Acute Flaccid Paralysis by Enterovirus D68 Infection: First Italian Description in Adult Patient and Role of Electrophysiology
por: Ceccanti, Marco, et al.
Publicado: (2017)

Altered Cortical Synaptic Plasticity in Response to 5-Hz Repetitive Transcranial Magnetic Stimulation as a New Electrophysiological Finding in Amnestic Mild Cognitive Impairment Converting to Alzheimer’s Disease: Results from a 4-year Prospective Cohort Study
por: Trebbastoni, Alessandro, et al.
Publicado: (2016)

Pulmonary involvement in Gaucher disease
por: de Farias, Lucas de Pádua Gomes, et al.
Publicado: (2017)

Gaucher disease – bone involvement
por: Chis, Bogdan Augustin, et al.
Publicado: (2021)

Impact of SARS-CoV-2 infection on Gaucher disease patients in Italy
por: Cappellini, Maria Domenica, et al.
Publicado: (2021)

Gaucher Disease and Gaucher Cells
por: Gözdaşoğlu, Sevgi
Publicado: (2015)

Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism
por: Furderer, Makaila L., et al.
Publicado: (2022)

Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?
por: Di Rocco, Maja, et al.
Publicado: (2020)

Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1
por: Wilke, Matheus V. M. B., et al.
Publicado: (2019)

Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry
por: Rosenbloom, Barry E., et al.
Publicado: (2022)

Gaucher disease with jawbone involvement: a case report
por: Ahmadieh, Azadeh, et al.
Publicado: (2014)

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease
por: Lefebvre, Thibaud, et al.
Publicado: (2018)

P1540: STUDY OF MIRNA EXPRESSION PROFILES IN GAUCHER PATIENTS AND THEIR RELATIONSHIP WITH THE SEVERITY OF BONE INVOLVEMENT
por: Serrano-Gonzalo, I., et al.
Publicado: (2022)

Gaucher disease: an update
por: Dumitrascu, Dan L.
Publicado: (2021)

The Spectrum of Neurological and Sensory Abnormalities in Gaucher Disease Patients: A Multidisciplinary Study (SENOPRO)
por: Tullo, Maria Giulia, et al.
Publicado: (2023)

Gaucher Cells or Pseudo-Gaucher Cells: That’s the Question
por: Gören Şahin, Deniz, et al.
Publicado: (2014)

GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
por: Pession, Andrea, et al.
Publicado: (2023)

Communication of diagnosis in amyotrophic lateral sclerosis: stratification of patients for the estimation of the individual needs
por: Pizzimenti, Alessia, et al.
Publicado: (2015)

Lung lysed: A case of Gaucher disease with pulmonary involvement
por: Sherwani, Poonam, et al.
Publicado: (2016)

Liver involvement in patients with Gaucher disease types I and III
por: Starosta, Rodrigo Tzovenos, et al.
Publicado: (2020)

Gaucher's disease
por: Bohra, Vijay, et al.
Publicado: (2011)

Gaucher’s Disease
Publicado: (1916)

Gaucher disease protects against tuberculosis
por: Fan, Jingwen, et al.
Publicado: (2023)

Progranulin as a Novel Factor in Gaucher Disease
por: Choy, Francis Y.M., et al.
Publicado: (2016)

Rethinking fatigue in Gaucher disease
por: Zion, Y. Chen, et al.
Publicado: (2016)

Neuronopathic Gaucher disease: Beyond lysosomal dysfunction
por: Arévalo, Nohela B., et al.
Publicado: (2022)

Advantages of digital technology in the assessment of bone marrow involvement in Gaucher's disease
por: Valero-Tena, Esther, et al.
Publicado: (2023)

An Atoh1 CRE Knock-In Mouse Labels Motor Neurons Involved in Fine Motor Control
por: Ogujiofor, Osita W., et al.
Publicado: (2021)

Gaucher disease: Unusual presentation and mini-review
por: Rizk, Tamer M., et al.
Publicado: (2015)

Gaucher Disease and the Synucleinopathies
por: Hruska, Kathleen S., et al.
Publicado: (2006)

Gaucher-Associated Parkinsonism
por: Li, Yaqiong, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_pdar2b3c0l9s5iev3cbehkqj31