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

doi:10.1016/j.ymgmr.2019.100540

A case of motor neuron involvement in Gaucher disease

Mol Genet Metab Rep. 2019 Nov 12:21:100540. doi: 10.1016/j.ymgmr.2019.100540. eCollection 2019 Dec.

Authors

V Pozzilli¹, F Giona², M Ceccanti¹, C Cambieri¹, V Frasca¹, E Onesti¹, L Libonati¹, S Di Bari¹, I Fiorini¹, L Cardarelli², M Santopietro², M Inghilleri¹

Affiliations

¹ Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
² Haematology, Department of Translational and Precision Medicine, Sapienza University, Rome, Italy.

Abstract

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: Amyotrophic lateral sclerosis; Gaucher disease; Motor neuron disease.

Publication types

Case Reports