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
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. - In: MOLECULAR GENETICS AND METABOLISM REPORTS. - ISSN 2214-4269. - 21:(2019). [10.1016/j.ymgmr.2019.100540]
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;Santopietro M;Inghilleri M
2019
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| File | Dimensione | Formato | |
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