[Clinical characteristics of the neurological forms of Gaucher's disease].

Abstract

Gaucher's disease is the most prevalent disease of accumulation of glycosphingolipids. Neurological involvement is used to classify the different types of the disease. Type 1 affects approximately 90% of patients, and visceral manifestations and bone marrow, without affecting the nervous system. Type 2 is considered a severe form of disease with severe nervous system and death within two years. Type 3 is late, slowly progressive neurological symptoms and survival until the third decade. Besides these classical syndromes, the best knowledge of the disease related to the existence of national registries, the increased survival of patients resulting from replacement therapy, and demonstration of the behavior of glucocerebrosidase mutations as a risk factor of neurodegenerative diseases, has expanded the clinical phenotype and altered the traditional classification of the disease.

• Authors: José Luis Capablo Liesa, Alicia Sáez de Cabezón, Raquel Alarcia Alejos, José Ramón Ara Callizo
• Journal: Medicina clinica (Med Clin (Barc)) Vol. 137 Suppl 1 Pg. 6-11 (Sep 2011) ISSN: 1578-8989 [Electronic] Spain
• Vernacular Title: Características clínicas de las formas neurológicas de la enfermedad de Gaucher.
• PMID: 22230119 (Publication Type: English Abstract, Journal Article)
• Copyright: Copyright © 2011 Elsevier España S.L. All rights reserved.

Chemical References

• Glucosylceramidase

Topics

• Alzheimer Disease (etiology)
• Cerebrovascular Disorders (etiology)
• Gaucher Disease (classification, complications, genetics, therapy)
• Glucosylceramidase (genetics)
• Heterozygote
• Humans
• Lewy Body Disease (genetics)
• Mutation (genetics)
• Parkinson Disease (etiology)
• Peripheral Nervous System Diseases (etiology)