Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study analyzed the clinical and genetic characteristics of patients with GDAP1 mutations across Spain. 99 patients were identified, which were distributed across most of Spain, but especially in the Northwest and Mediterranean regions. The most common genotypes were p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients). Patients with recessively inherited mutations had a more severe phenotype, and certain clinical features, like dysphonia or respiratory dysfunction, were exclusively detected in this group. Dominantly inherited mutations had prominent clinical variability regarding severity, including 29% of patients who were asymptomatic. There were minor clinical differences between patients harboring specific mutations but not when grouped according to localization or type of mutation. This is the largest clinical series to date of patients with GDAP1 mutations, and it contributes to define the genetic distribution and genotype-phenotype correlation in this rare form of CMT

Nuevos enfoques para el estudio de sistemas agro-silvo-pastoriles: análisis de sostenibilidad y modelos de simulación

El futuro de la agricultura, y en particular de la producción animal, es objeto de un intenso debate público y científico que gira alrededor de la sostenibilidad de los sistemas de producción. La sostenibilidad implica la capacidad de autorreproducción de los elementos esenciales —económicos, ambientales y sociales— de una determinada explotación o sector productivo, teniendo en cuenta las relaciones con el entorno socio-económico, cultural, político, de mercado, etc., que es crecientemente determinante y está sometido a cambios constantes y frecuentemente imprevisibles. En este trabajo se presentan dos ejemplos ilustrativos de metodologías aplicadas al análisis sistémico en ganadería de rumiantes en el norte de España. En el primer caso, se aplica el marco de evaluación MESMIS de sostenibilidad y manejo de recursos en sistemas ovinos con diverso grado de intensificación y orientación productiva. Se describe someramente el proceso de recogida de información, elección de puntos críticos e indicadores y valoración de atributos de sostenibilidad en las áreas ambiental, social y económica. En el segundo caso, se describe brevemente el programa de simulación dinámica NODRIZA para rebaños de vacuno de carne y se presentan resultados de evaluación de alternativas de manejo de rebaño y recursos de pastoreo en condiciones de montaña desde diversas perspectivas: técnica, económica, mano de obra y uso de la tierra.The future of agriculture and animal production in particular has become a fundamental issue of public and scientific debate. Sustainability of farming systems is placed in the centre of this debate. Sustainability implies the capacity of self-reproduction of any essential component –economic, environmental and social- of a farm, region or industry in relation of its socio-economic, cultural, political, and market environment. This environment is increasingly influential and changes occur frequently and often are unpredictable. In this paper we present two examples illustrating methodologies applied to the systemic analysis of ruminant farming systems in the north of Spain. In the first example, we use the MESM IS framework to assess the sustainability of a number of sheep farms with different degree of intensification and productive orientation. We briefly describe the data collection, the identification of critical points and indicators, and the assessment of sustainability attributes in environmental, social and economic dimensions. In the second example, we present the software NODR IZA for simulation of beef cattle herds and its application to the evaluation of longterm performance of mountain farms under diverse feeding, reproductive and land use management strategies. Trade-offs between production, economics, land use and labour are briefly discussedanálisis de sistemasMESMISprograma NODRIZAovinovacuno de carneEspañasystems analysisNODRIZA softwaresheepbeef cattleSpainPublishe

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study analyzed the clinical and genetic characteristics of patients with GDAP1 mutations across Spain. 99 patients were identified, which were distributed across most of Spain, but especially in the Northwest and Mediterranean regions. The most common genotypes were p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients). Patients with recessively inherited mutations had a more severe phenotype, and certain clinical features, like dysphonia or respiratory dysfunction, were exclusively detected in this group. Dominantly inherited mutations had prominent clinical variability regarding severity, including 29% of patients who were asymptomatic. There were minor clinical differences between patients harboring specific mutations but not when grouped according to localization or type of mutation. This is the largest clinical series to date of patients with GDAP1 mutations, and it contributes to define the genetic distribution and genotype-phenotype correlation in this rare form of CMT

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study analyzed the clinical and genetic characteristics of patients with GDAP1 mutations across Spain. 99 patients were identified, which were distributed across most of Spain, but especially in the Northwest and Mediterranean regions. The most common genotypes were p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients). Patients with recessively inherited mutations had a more severe phenotype, and certain clinical features, like dysphonia or respiratory dysfunction, were exclusively detected in this group. Dominantly inherited mutations had prominent clinical variability regarding severity, including 29% of patients who were asymptomatic. There were minor clinical differences between patients harboring specific mutations but not when grouped according to localization or type of mutation. This is the largest clinical series to date of patients with GDAP1 mutations, and it contributes to define the genetic distribution and genotype-phenotype correlation in this rare form of CMT