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...

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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
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author 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.
author_facet 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.
author_sort Pozzilli, V.
collection PubMed
description 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 involvement. A diagnosis of definite Amyotrophic Lateral Sclerosis was made. This is the first reported case of concurrent Gaucher disease and the ALS phenotype in the same patient.
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spelling pubmed-68956772019-12-16 A case of motor neuron involvement in Gaucher disease 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. Mol Genet Metab Rep Case Report 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 involvement. A diagnosis of definite Amyotrophic Lateral Sclerosis was made. This is the first reported case of concurrent Gaucher disease and the ALS phenotype in the same patient. Elsevier 2019-11-12 /pmc/articles/PMC6895677/ /pubmed/31844629 http://dx.doi.org/10.1016/j.ymgmr.2019.100540 Text en © 2019 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
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.
A case of motor neuron involvement in Gaucher disease
title A case of motor neuron involvement in Gaucher disease
title_full A case of motor neuron involvement in Gaucher disease
title_fullStr A case of motor neuron involvement in Gaucher disease
title_full_unstemmed A case of motor neuron involvement in Gaucher disease
title_short A case of motor neuron involvement in Gaucher disease
title_sort case of motor neuron involvement in gaucher disease
topic Case Report
url 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
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