Epilepsy in mucopolysaccharidosis disorders.
Mol Genet Metab
; 122S: 55-61, 2017 12.
Article
en En
| MEDLINE
| ID: mdl-29170080
ABSTRACT
The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs). The resulting GAG accumulation in cells and tissues throughout the body leads to progressive multi-organ dysfunction. MPS patients present with several somatic manifestations, including short stature, musculoskeletal abnormalities, and cardiorespiratory dysfunction, and several primary and secondary neurological signs and symptoms. Epileptic seizures are neurological signs of MPS thought to develop due to accumulation of GAGs in the brain, triggering alterations in neuronal connectivity and signaling, and release of inflammatory mediators. The amount of literature on the prevalence, pathophysiology, clinical features, and management of epileptic seizures in patients with MPS is limited. This review discusses current knowledge on this topic, as well as two case examples, presented and discussed during a closed meeting on MPS and the brain among an international group of experts with extensive experience in managing and treating MPS.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Encéfalo
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Mucopolisacaridosis
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Epilepsia
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Glicosaminoglicanos
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Anticonvulsivantes
Tipo de estudio:
Etiology_studies
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Prevalence_studies
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Risk_factors_studies
Límite:
Adolescent
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Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Mol Genet Metab
Asunto de la revista:
BIOLOGIA MOLECULAR
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BIOQUIMICA
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METABOLISMO
Año:
2017
Tipo del documento:
Article