Présentations neurologiques des maladies lysosomales chez l’adulte
| Autor: | Frédéric Sedel, Nicole Baumann, Turpin Jc |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Pediatrics
medicine.medical_specialty business.industry Leukodystrophy Mucopolysaccharidosis type III Enzyme replacement therapy medicine.disease Fucosidosis Metachromatic leukodystrophy Mucopolysaccharidosis type I Neurology medicine Substrate reduction therapy Neurology (clinical) Sialidosis business |
| Zdroj: | Revue Neurologique. 163:919-929 |
| ISSN: | 0035-3787 |
| Popis: | Lysosomal diseases represent a large group of genetic storage disorders characterized by a defect in the catabolism of complex molecules within the lysosome. Effective treatments are now possible for some of them given progresses in bone-marrow transplantation, enzyme replacement therapy and substrate reduction therapy. Neurologists and psychiatrists are concerned by these diseases because they can present in adolescence or adulthood with progressive neuropsychiatric signs. Here we focus on late-onset clinical forms which can be met in an adult neurology or psychiatric department. Lysosomal diseases were classified into 3 groups: (1) leukodystrophies (metachromatic leukodystrophy, Krabbe's disease and Salla's disease); (2) Neurodegenerative or psychiatric-like diseases (GM1 and GM2 gangliosidoses, Niemann Pick type C disease, sialidosis type I, ceroid-lipofuscinosis, mucopolysaccharidosis type III); (3) multisystemic diseases (Gaucher's disease, Fabry's disease, alpha and B mannosidosis, Niemann Pick disease type B, fucosidosis, Schindler/Kanzaki disease, and mucopolysaccharidosis type I and II. We propose a diagnostic approach guided by clinical examination, brain MRI, electrodiagnostic studies and abdominal echography. |
| Databáze: | OpenAIRE |
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