ABSTRACT
Introducción: Las mutaciones en el gen LRRK2 se han relacionado tradicionalmente con unfenotipo benigno de la enfermedad de Parkinson (EP). En la fase avanzada, se ha descrito unarespuesta favorable a la estimulación cerebral profunda (ECP). Métodos: Retrospectivamente, hemos analizado las características clínicas y la evolución de14 pacientes con EP debida a mutaciones en LRRK2 (EP-LRRK2), 13 en G2019S y uno en I1371 V.Nueve de ellos, en fase avanzada, tuvieron una evolución media de 7, 2 a ̃nos hasta alcanzarla.Resultados: Siete pacientes fueron intervenidos de ECP subtalámica bilateral y dos recibierontratamiento con una terapia de infusión. Los pacientes portadores de la mutación G2019S mos-traron una excelente respuesta a la ECP, con una mejoría a los seis meses superior al 80% en laUnified Parkinsons disease rating scale (UPDRS II y UPDRS III). Esta respuesta se ha mantenidoen el tiempo. El paciente con la mutación I1371 V mostraba un fenotipo grave de la enfermedad y su respuesta a la ECP ha sido moderada. Los pacientes con EP-LRRK2 en fase avanzadamostraron una afectación cognitiva predominantemente frontal con un deterioro significativodel lenguaje. Conclusiones: En nuestros pacientes con EP-LRRK2 hemos observado un fenotipo con una evolución más rápida a la fase avanzada de la enfermedad. Recalcamos la idoneidad de la ECPsubtalámica en estos casos.(AU)
Introduction: LRRK2 mutations have traditionally been associated with a benign phenotype ofParkinsons disease (PD). Favourable responses to deep brain stimulation (DBS) are reported inthe advanced phase. Methods: We performed a retrospective analysis of the clinical characteristics and progressionof 13 patients with LRRK2-associated PD (13 with G2019S and one with I1371 V). Nine patientswere in the advanced phase, with a mean progression time of 7.2 years before reaching thisphase. Results: Seven patients underwent bilateral subthalamic DBS implantation, and two receivedinfusion treatment. Patients with mutation G2019S responded excellently to DBS, with UnifiedParkinsons disease rating scale (UPDRS) II and III scores improving by 80% at six months. Thisresponse was sustained over time. The patient with mutation I1371 V had a severe phenotypeof the disease, and presented a moderate response to DBS. Patients with advanced LRRK2-associated PD showed predominantly frontal cognitive involvement, with significant languageimpairment. Conclusions: In these patients, progression was faster in the advanced stage of the disease.We emphasise the suitability of subthalamic DBS in the management of these patients.(AU)
Subject(s)
Humans , Male , Female , Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 , Parkinson Disease/drug therapy , Deep Brain Stimulation , Retrospective Studies , Movement Disorders , SpainABSTRACT
INTRODUCTION: LRRK2 mutations have traditionally been associated with a benign phenotype of Parkinson's disease (PD). Favourable responses to deep brain stimulation (DBS) are reported in the advanced phase. METHODS: We performed a retrospective analysis of the clinical characteristics and progression of 13 patients with LRRK2-associated PD (13 with G2019S and 1 with I1371V). Nine patients were in the advanced phase, with a mean progression time of 7.2 years before reaching this phase. RESULTS: Seven patients underwent bilateral subthalamic DBS implantation, and 2 received infusion treatment. Patients with mutation G2019S responded excellently to DBS, with Unified Parkinson's Disease Rating Scale (UPDRS) II and III scores improving by 80% at 6 months. This response was sustained over time. The patient with mutation I1371V had a severe phenotype of the disease, and presented a moderate response to DBS. Patients with advanced LRRK2-associated PD showed predominantly frontal cognitive involvement, with significant language impairment. CONCLUSIONS: In these patients, progression was faster in the advanced stage of the disease. We emphasise the suitability of subthalamic DBS in the management of these patients.
Subject(s)
Deep Brain Stimulation , Parkinson Disease , Humans , Parkinson Disease/therapy , Parkinson Disease/drug therapy , Retrospective Studies , Mutation , Phenotype , Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/geneticsABSTRACT
Introducción: Ni el legislador, ni los diferentes estudios previos han establecido una clasificación exhaustiva de los medicamentos de elaboración o preparación no industrial en el territorio regulatorio español. Métodos: Revisión bibliográfica sobre la normativa (nacional y comunitaria) y estudios doctrinales relativos al marco jurídico de los medicamentos de uso humano, y el análisis de la misma. Resultados: En la literatura no se encuentra una clasificación adecuada de los medicamentos de elaboración o preparación no industrial. Conclusiones: Se ha propuesto una clasificación doctrinal de los medicamentos de elaboración o preparación no industrial basada en cuatro categorías principales. (AU)
Introduction: Neither the legislator nor the different previous studies have established an exhaustive classification of non-industrially elaborated or prepared drugs in the Spanish regulatory territory. Method: Bibliographic review on the regulations (national and community) and doctrinal studies related to the legal framework of medicines for human use, and their analysis. Results: There is no adequate classification of non-industrially elaborated or prepared drugs in the literature. Conclusions: A doctrinal classification of non-industrially elaborated or prepared drugs has been proposed based on four main categories
Subject(s)
Humans , Legislation, Drug , Pharmaceutical Preparations/analysis , Pharmaceutical Preparations/classification , Spain , RadiopharmaceuticalsABSTRACT
INTRODUCTION: LRRK2 mutations have traditionally been associated with a benign phenotype of Parkinson's disease (PD). Favourable responses to deep brain stimulation (DBS) are reported in the advanced phase. METHODS: We performed a retrospective analysis of the clinical characteristics and progression of 13 patients with LRRK2-associated PD (13 with G2019S and one with I1371 V). Nine patients were in the advanced phase, with a mean progression time of 7.2 years before reaching this phase. RESULTS: Seven patients underwent bilateral subthalamic DBS implantation, and two received infusion treatment. Patients with mutation G2019S responded excellently to DBS, with Unified Parkinson's disease rating scale (UPDRS) II and III scores improving by 80% at six months. This response was sustained over time. The patient with mutation I1371 V had a severe phenotype of the disease, and presented a moderate response to DBS. Patients with advanced LRRK2-associated PD showed predominantly frontal cognitive involvement, with significant language impairment. CONCLUSIONS: In these patients, progression was faster in the advanced stage of the disease. We emphasise the suitability of subthalamic DBS in the management of these patients.
