A case of motor neuron involvement in Gaucher disease

V. Pozzilli; F. Giona; M. Ceccanti; C. Cambieri; V. Frasca; E. Onesti; L. Libonati; S. Di Bari; I. Fiorini; L. Cardarelli; M. Santopietro; M. Inghilleri

Molecular Genetics and Metabolism Reports (Dec 2019)

A case of motor neuron involvement in Gaucher disease

V. Pozzilli,
F. Giona,
M. Ceccanti,
C. Cambieri,
V. Frasca,
E. Onesti,
L. Libonati,
S. Di Bari,
I. Fiorini,
L. Cardarelli,
M. Santopietro,
M. Inghilleri

Affiliations

V. Pozzilli: Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy
F. Giona: Haematology, Department of Translational and Precision Medicine, Sapienza University, Rome, Italy
M. Ceccanti: Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy
C. Cambieri: Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy
V. Frasca: Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy
E. Onesti: Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy
L. Libonati: Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy
S. Di Bari: Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy
I. Fiorini: Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy
L. Cardarelli: Haematology, Department of Translational and Precision Medicine, Sapienza University, Rome, Italy
M. Santopietro: Haematology, Department of Translational and Precision Medicine, Sapienza University, Rome, Italy
M. Inghilleri: Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy; Corresponding author.

Journal volume & issue: Vol. 21

Abstract

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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. Keywords: Motor neuron disease, Amyotrophic lateral sclerosis, Gaucher disease

Published in Molecular Genetics and Metabolism Reports

ISSN: 2214-4269 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General); Science: Biology (General)
Website: http://www.journals.elsevier.com/molecular-genetics-and-metabolism-reports/

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