Este trabajo no ha sido financiado por ninguna entidad. Conflictos de interésNo existen conflictos de interés Resumen.Introducción. La enfermedad de Lafora (LD) es una forma de epilepsia mioclónica progresiva de herencia autosómica recesiva, de inicio en la infancia tardía o en la adolescencia, y producida por mutaciones de pérdida de función en los genes EPM2A o EPM2B, los cuales codifican para las proteínas laforina y malina, respectivamente.Desarrollo. Los principales síntomas de la enfermedad, que empeoran progresivamente, son: mioclonías, crisis occipitales, crisis tónico-clónicas generalizadas, deterioro cognitivo, síntomas neuropsiquiátricos, y ataxia. El curso es progresivo y fatal. Patológicamente, la LD se caracteriza por la presencia de depósitos de poliglucosanos llamados cuerpos de Lafora (LBs, del inglés Lafora bodies) en el cerebro, hígado, músculo, y glándulas sudoríparas. El diagnóstico de LD se realiza mediante hallazgos clínicos, electrofisiológicos, histológicos y genéticos. Actualmente, no existe un tratamiento que erradique o prevenga el desarrollo de la enfermedad. Tradicionalmente, se utilizan fármacos antiepilépticos para el manejo de las mioclonías y las convulsiones, aunque aparecen resistencias a los mismos.Conclusiones. La LD es una enfermedad rara que, pese a su baja prevalencia, supone graves consecuencias para los pacientes y sus cuidadores. Así pues, resulta necesario continuar la investigación para clarificar los mecanismos subyacentes y desarrollar nuevos tratamientos paliativos y curativos de la enfermedad.
Interoception, a multifaceted concept defined as the perception of internal bodily signals, is crucially involved in mental health in general and in emotion regulation in particular, being interoceptive sensibility (IS) one of the most studied interoceptive processes. The main objective of this study was to explore the relationships between IS and emotion regulation processes, analyzing the role of the eight IS dimensions assessed by the Multidimensional Assessment of Interoceptive Awareness-2 (MAIA-2) in alexithymia, emotion dysregulation, and depression. Additionally, this study also aimed to validate the MAIA-2 in a Spanish sample. To do so, 391 healthy adults, native Peninsular Spanish speakers (61.0% women, Mage = 29.00, SDage = 11.40), completed the MAIA-2 and other self-reported questionnaires to measure alexithymia, emotion dysregulation, and depressive symptoms. Results showed that lower scores on the IS dimensions that involve an accepting attitude toward the bodily signals (e.g., not-worrying) were related to alexithymia and emotion dysregulation, which, in turn, predicted depression. Moreover, the eight-factor structure of the MAIA-2 was confirmed with acceptable fit indices. This study highlights the multidimensional nature of the IS and the relevance of IS dimensions that involve a positive appraisal of the body in regulating emotions.
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