[Clinical characteristics of the neurological forms of Gaucher's disease].
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.
Servicio de Neurología, Hospital Universitario Miguel Servet, Zaragoza, Spain. jcapablo@gmail.com
José Luis
JL
Capablo Liesa
Alicia Sáez
AS
de Cabezón
Raquel
R
Alarcia Alejos
José Ramón
JR
Ara Callizo
D000544:Alzheimer Disease / Q000209:etiology; D002561:Cerebrovascular Disorders / Q000209:etiology; D005776:Gaucher Disease / Q000145:classification* / Q000150:complications / Q000235:genetics / Q000628:therapy; D005962:Glucosylceramidase / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D020961:Lewy Body Disease / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000209:etiology; D010523:Peripheral Nervous System Diseases / Q000209:etiology
D005962:Glucosylceramidase