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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.
Afiliação
  • Pozzilli V; Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
  • Giona F; Haematology, Department of Translational and Precision Medicine, Sapienza University, Rome, Italy.
  • Ceccanti M; Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
  • Cambieri C; Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
  • Frasca V; Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
  • Onesti E; Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
  • Libonati L; Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
  • Di Bari S; Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
  • Fiorini I; Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
  • Cardarelli L; Haematology, Department of Translational and Precision Medicine, Sapienza University, Rome, Italy.
  • Santopietro M; Haematology, Department of Translational and Precision Medicine, Sapienza University, Rome, Italy.
  • Inghilleri M; Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
Mol Genet Metab Rep ; 21: 100540, 2019 Dec.
Article em En | MEDLINE | ID: mdl-31844629
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália