Multigene phylogeny of the order Physarales (Myxomycetes, Amoebozoa): shedding light on the dark-spored clade.

The class Myxomycetes consists of free-living protists characterised by their complex life cycle, which includes both microscopic (amoebae, flagellates and cists) and macroscopic stages (spore-bearing fruiting bodies, sclerotia, and plasmodia). Within it, the order Physarales, with more than 450 recognised species, constitutes the largest group. Although previous studies have shown the polyphyly of some of the traditionally accepted genera, its internal phylogenetic relationships have remained uncertain so far, and together with the lack of data for some key species, it prevented any taxonomic and nomenclatural revisions. We have compiled a substantially expanded dataset in terms of both taxon sampling and molecular data, including most of the genera described to date and four unlinked DNA regions, for which we provide partial sequences: nSSU, EF-1α, α-Tub, and mtSSU, analysed through maximum likelihood and Bayesian methods. Our results confirm that the family Didymiaceae is paraphyletic to the rest of Physarales. Within Didymiaceae s.lat., the recent reinstatement of the genus Polyschismium for most species traditionally ascribed to Lepidoderma, except for the type (Ronikier et al. 2022), is further supported here, as well as the definite inclusion of the genus Mucilago in Didymium and Lepidoderma s.str. (L. tigrinum) in Diderma (Prikhodko et al. 2023). Additionally, the genus Diachea is redefined to include some species previously treated in Physaraceae (Craterium spp. with true columella). Within the monophyletic family Physaraceae, most genera are recovered as polyphyletic, suggesting that they should be no longer accepted as currently defined. However, the lack of resolution of some relationships within Physaraceae prevents us from resuscitating or creating several new genera to mitigate polyphyly. Among the well-defined groups with clear molecular signatures, we propose two taxonomic and nomenclatural changes at generic level: 1) a new genus, Nannengaella, is proposed for a major clade containing Physarum globuliferum and other species with heavily calcified sporophores and, often, a true calcareous columella; 2) Lignydium is resurrected for the clade containing Fuligo muscorum. Additionally, Trichamphora is suggested as the correct name for the clade containing Physarum pezizoideum. The taxonomy and nomenclature of some provisional genera, currently synonymous with Fuligo and Physarum, are disentangled, and we provide a comprehensive and updated nomenclatural conspectus that can be used when better resolved phylogenies are obtained. In total, 22 new combinations are proposed in different genera. A provisional key to the genera of the order is also provided. Citation: García-Martín JM, Zamora JC, Lado C. 2023. Multigene phylogeny of the order Physarales (Myxomycetes, Amoebozoa): shedding light on the dark-spored clade. Persoonia 51: 89-124. doi: 10.3767/persoonia.2023.51.02.

Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome. / Respuesta clínica y neurofisiológica a la efedrina en un paciente con síndrome miasténico congénito de canal lento.

INTRODUCTION: Slow-channel congenital myasthenic syndrome is an autosomal dominant inherited progressive neuromuscular disorder caused by abnormal gating of mutant acetylcholine receptors in the neuromuscular junction. Its pathological hallmark is selective degeneration of the endplate and postsynaptic membrane due to calcium overload. Pyridostigmine should be avoided in this syndrome, being quinidine or fluoxetine the current recommended therapies. CASE REPORT: An 11-year-old girl with a limb-girdle phenotype of slow-channel congenital myasthenic syndrome presenting with a slowly progressive fatigable weakness at the age of 8 years. After a clinical worsening with pyridostigmine, empirically started before the exome sequencing results were available, a dramatic and sustained response to ephedrine monotherapy was observed. Whole exome sequencing revealed a de novo heterozygous mutation in CHRNB1 gene: c.865G>A; p.Val289Met (NM_000747.2). An abnormal decrement in amplitude (23.9%) from the first to fifth intravollley waveform was revealed after repetitive peroneal nerve stimulation at low frequencies. In addition, a second smaller compound muscle action potential after the peak of the main M-wave in median, ulnar and peroneal motor nerves was observed. CONCLUSION: Favorable responses to adrenergic agonists added to fluoxetine had been reported. However, to the best of our knowledge this is the first report on effective monotherapy with ephedrine in a slow-channel congenital myasthenic syndrome patient. Adrenergic agonists may be considered as a therapeutic option in patients with this syndrome.

TITLE: Respuesta clínica y neurofisiológica a la efedrina en un paciente con síndrome miasténico congénito de canal lento.Introducción. El síndrome miasténico congénito de canal lento, o síndrome de canales lentos, es un trastorno neuromuscular progresivo hereditario, autosómico dominante, causado por una activación anormal de los receptores de la acetilcolina en la unión neuromuscular. La alteración histopatológica característica es la degeneración selectiva de la placa terminal y la membrana postsináptica debido a la sobrecarga de calcio. La piridostigmina debe evitarse en este síndrome, y la quinidina o la fluoxetina son las terapias recomendadas actualmente. Caso clínico. Niña de 11 años con un fenotipo de cinturas de síndrome miasténico congénito de canal lento que presenta debilidad y fatiga lentamente progresivas desde los 8 años. Tras un empeoramiento clínico con piridostigmina, iniciado empíricamente antes de que los resultados de la secuenciación del exoma estuvieran disponibles, se observó una respuesta espectacular y sostenida con efedrina en monoterapia. La secuenciación del exoma reveló una mutación heterocigota de novo en el gen CHRNB1: c.865G>A; p.Val289Met (NM_000747.2). El estudio electromiográfico con estimulación repetitiva en el nervio peroneo mostró una disminución anormal en la amplitud (23,9%) y también la génesis de un segundo potencial de acción muscular compuesto más pequeño después del pico de la onda M principal en los nervios motores mediano, cubital y peroneo. Conclusión. Aunque se han documentado respuestas favorables a agonistas adrenérgicos en asociación con la fluoxetina, ésta representa la primera aportación que documenta una respuesta clínica relevante con efedrina en monoterapia en un paciente con síndrome miasténico congénito de canal lento. Los agonistas adrenérgicos pueden considerarse una opción terapéutica en pacientes con este síndrome.

[De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria]. / Mutación de novo en heterocigosis en el gen MBD5 asociada a heterotopía en banda bilateral y polimicrogiria.

INTRODUCTION: The aetiology of autosomal dominant mental retardation type 1, also known as pseudo-Angelman, MBD5-associated neurodevelopmental disorder or MBD5 haploinsufficiency, lies in a microdeletion of chromosome 2q23.1 or in a specific alteration of the MBD5 gene, which constitutes the minimum region affected in the aforementioned microdeletion. AIM: To report the case of a girl with a heterozygous de novo mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria. CASE REPORT: We report the case of an 8-year-old girl who was submitted to a developmental follow-up from the age of 18 months after presenting the association of severe intellectual disability and motor delay, lack of language development, segmental hypotonia, a wide forehead and kyphoscoliosis. Magnetic resonance imaging of the brain revealed the presence of a bilateral band heterotopia and parietooccipital polymicrogiria predominant on the left side. In the exome the de novo heterozygous variant c.397+1G>C was detected in the MBD5 gene. CONCLUSION: This is the first observation of a heterozygous mutation in the MBD5 gene associated with a neuronal migration disorder.

TITLE: Mutación de novo en heterocigosis en el gen MBD5 asociada a heterotopía en banda bilateral y polimicrogiria.Introducción. La etiología del retraso mental autosómico dominante 1, también conocido como pseudo-Angelman, trastorno del neurodesarrollo asociado a MBD5 o haploinsuficiencia MBD5, radica en una microdeleción del cromosoma 2q23.1 o en una alteración específica del gen MBD5, que constituye la mínima región afectada en la citada microdeleción. Objetivo. Comunicar el caso de una niña con una mutación heterocigota y de novo en el gen MBD5 asociada a heterotopía en banda bilateral y polimicrogiria. Caso clínico. Niña de 8 años, seguida evolutivamente desde los 18 meses por presentar la asociación de discapacidad intelectual y retraso motor graves, ausencia de desarrollo del lenguaje, hipotonía segmentaria, frente ancha y cifoescoliosis. En la resonancia magnética cerebral se observó la presencia de una heterotopía en banda bilateral y polimicrogiria parietooccipital de predominio izquierdo. En el exoma se detectó la variante de novo c.397+1G>C en heterocigosis en el gen MBD5. Conclusión. Constituye la primera observación con una mutación heterocigota en el gen MBD5 asociada a un trastorno en la migración neuronal.

Evidence of Intra-individual SSU Polymorphisms in Dark-spored Myxomycetes (Amoebozoa).

The nuclear small subunit rRNA gene (SSU or 18S) is a marker frequently used in phylogenetic and barcoding studies in Amoebozoa, including Myxomycetes. Despite its common usage and the confirmed existence of divergent copies of ribosomal genes in other protists, the potential presence of intra-individual SSU variability in Myxomycetes has never been studied before. Here we investigated the pattern of nucleotide polymorphism in the 5' end fragment of SSU by cloning and sequencing a total of 238 variants from eight specimens, each representing a species of the dark-spored orders Stemonitidales and Physarales. After excluding singletons, a relatively low SSU intra-individual variability was found but our data indicate that this might be a widely distributed phenomenon in Myxomycetes as all samples analyzed possessed various ribotypes. To determine if the occurrence of multiple SSU variants within a single specimen has a negative effect on the circumscription of species boundaries, we conducted phylogenetic analyses that revealed that clone variation may be detrimental for inferring phylogenetic relationships among some of the specimens analyzed. Despite that intra-individual variability should be assessed in additional taxa, our results indicate that special care should be taken for species identification when working with closely related species.

[Hypomyelinating leukodystrophy type 6. Clinical and neuroimaging key features in the detection of a new case]. / Leucodistrofia hipomielinizante de tipo 6. Claves clinicas y de neuroimagen en la deteccion de un nuevo caso.

INTRODUCTION: Hypomyelinating leukodystrophy-6 is a rare and early onset neurodegenerative disease which entails a clinical pattern of pyramidal-extrapyramidal and cerebellar involvement and it comes with a neuroimaging consisting of hypomielination, cerebellar hypoplasia and specific abnormalities in basal ganglia, particularly the absence or nearly absence of putamen and the possible loss of caudate's volume. It is due to an alteration in tubulin and it is determined by mutations in heterocygosis in TUBB4A gene, showing complete penetrance. CASE REPORT: An 8-year-old child with history of delayed motor development, tremor, dysathria, ataxia, nystagmus, cognitive deficit and dystonia with pattern of hypomielination, vermis hypoplasia and absence of putamen. These findings, although distinctive, had been underestimated in previous evaluations and their detection determined the analyse and identification of a pathogenic variant in TUBB4A gene. CONCLUSIONS: Progressive deterioration leads the patient to total dependence or death in infancy or youth and there is no specific treatment capable of modifying its natural course.

TITLE: Leucodistrofia hipomielinizante de tipo 6. Claves clinicas y de neuroimagen en la deteccion de un nuevo caso.Introduccion. La leucodistrofia hipomielinizante de tipo 6 es una enfermedad neurodegenerativa rara de inicio temprano que cursa clinicamente con un patron de afectacion piramidoextrapiramidal y cerebeloso, y asocia en neuroimagen hipomielinizacion, hipoplasia cerebelosa y anomalias especificas en los ganglios basales, en concreto atrofia o practica ausencia del putamen y posible perdida del volumen del caudado. Se debe a una alteracion en la tubulina, esta condicionada por mutaciones en heterocigosis en el gen TUBB4A y muestra una penetrancia completa y una expresividad variable. Caso clinico. Niño de 8 años con clinica de retraso de la marcha, temblor, disartria, ataxia, nistagmo, afectacion cognitiva y distonia, con un patron de hipomielinizacion, hipoplasia vermiana y ausencia del putamen. Estos hallazgos, aunque distintivos, habian sido infraestimados en valoraciones previas y su objetivacion conllevo el analisis y la identificacion de una variante patogena en el gen TUBB4A. Conclusiones. El deterioro progresivo lleva al paciente a la dependencia total o el fallecimiento en la infancia o la juventud, y no existe tratamiento especifico capaz de modificar su curso natural.

[Treatment of choline kinase beta deficiency with citicoline]. / Tratamiento de la deficiencia en colina cinasa beta con citicolina.

TITLE: Tratamiento de la deficiencia en colina cinasa beta con citicolina.

[Functional hemispherectomy: long-term follow-up in a series of five patients]. / Hemisferectomia funcional: seguimiento a largo plazo en una serie de cinco casos.

INTRODUCTION: Functional hemispherectomy consists in palliative epilepsy surgical procedure usually performed in patients with pharmaco-resistant epilepsy and hemispheric syndromes. It is based on the neural disconnection of the affected hemisphere with preservation of the vascular supply. AIM: To analyze long-term prognosis and safety of the hemispherectomies performed in our institution. PATIENTS AND METHODS: Retrospective analysis collecting the following variables: age, gender, age of epilepsy onset, type of seizures, etiology, age of epilepsy surgery, prognosis and potential surgical complications. All patients had a minimum of five years of follow up. RESULTS: Five patients (60% females) underwent hemispherotomy between 1999 and 2010. Age of epilepsy onset was 36 months and time of evolution until surgery was 7 years. The most frequent type of seizures were simple motor seizures with secondary generalization (n = 5). Three patients remained seizure free persistently after surgery and another patient had a more than 90% improvement. Time of follow up was 13 years. One patient suffered a bacterial meningitis without sequelae. Six years after surgery a patient suffered hydrocephalous requiring ventriculoperitoneal shunt. CONCLUSIONS: Functional hemispherectomy constitutes an effective method to treat patients with pharmaco-resistant epilepsy, extensive unihemispheric pathology and seizures limited to that hemisphere. Late complications may occur thus long-term follow-up is needed.

TITLE: Hemisferectomia funcional: seguimiento a largo plazo en una serie de cinco casos.Introduccion. La hemisferectomia funcional es una de las tecnicas quirurgicas con intencion paliativa que se pueden realizar en pacientes con epilepsia farmacorresistente y sindromes hemisfericos. Se basa en la desconexion neuronal del hemisferio afectado preservando el arbol vascular. Objetivo. Analizar el pronostico y la seguridad a largo plazo de las hemisferectomias realizadas en nuestro centro. Pacientes y metodos. Revision retrospectiva de los casos intervenidos, recogiendo las siguientes variables clinicas: edad, sexo, edad de inicio de la epilepsia, tipo de crisis, etiologia de la epilepsia, edad de intervencion, pronostico posquirurgico y posibles complicaciones. El seguimiento minimo fue de cinco años. Resultados. Cinco pacientes (60% mujeres) fueron intervenidos entre 1999 y 2010. La edad de inicio de la epilepsia fue de 36 meses, y el tiempo de evolucion hasta la cirugia, de 7 años. El tipo de crisis mas habitual fueron las crisis parciales simples motoras con generalizacion secundaria (n = 5). Tres pacientes permanecieron libres de crisis tras la cirugia, y otro paciente mejoro mas de un 90%. El tiempo medio de seguimiento fue de 13 años. Como complicaciones, una paciente sufrio una meningitis bacteriana sin secuelas posteriores. A los seis años de la cirugia, un paciente presento una hidrocefalia que requirio la implantacion de una valvula de derivacion ventriculoperitoneal. Conclusiones. La hemisferectomia funcional constituye un procedimiento quirurgico eficaz para el tratamiento de pacientes con epilepsia farmacorresistente, patologia hemisferica extensa y crisis limitadas a ese hemisferio. Hay complicaciones que pueden aparecer tardiamente, por lo que se aconseja un seguimiento a largo plazo de estos pacientes.

[Retrospective analysis of the effect of a vagus nerve stimulator implanted in paediatric patients with refractory epilepsy]. / Analisis retrospectivo sobre el efecto del estimulador vagal implantado en pacientes pediatricos con epilepsia refractaria.

INTRODUCTION: The vagus nerve stimulator is a therapeutic alternative in patients with epilepsy which is refractory to treatment with antiepileptic drugs that are not candidates for surgical resection. AIM: To analyse the effectiveness of vagus nerve stimulator in the paediatric patients of our centre. PATIENTS AND METHODS: Set of 13 patients implanted between 2008 y 2013. It was registered the frequency of crises prior to implantation, after a year and at the end of the monitoring period. As well, it was recorded the number of antiepileptic drugs used and in a qualitative way the behavioural improvement and the change in the intensity of the crises, besides the apparition of secondary effects and the removal or not of the device. RESULTS: After a year, two years and at the end of the monitoring period it has been a fall in the number of crises about of 61%, 66.7% y 69% respectively, finding one patient free of crises after two years. At the end of the monitoring period, the 23% of those who had reduced their crises had experimented a reduction over 90%. Independently the effect on the number of crises, 77% of the patients presented an improvement in the intensity and the length of the crises, the same average showed a behavioural improvement. The secondary effects appeared in a 30.7% of the patients, being of mild intensity. CONCLUSIONS: Despite the small size of our sample, our results shows that the vagus nerve stimulator has a relevant efficacy over the pediatric drug resistant population, as much in the frequency and intensity of the crises, as over the behaviour.

TITLE: Analisis retrospectivo sobre el efecto del estimulador vagal implantado en pacientes pediatricos con epilepsia refractaria.Introduccion. El estimulador vagal es una alternativa terapeutica en los pacientes con epilepsia refractaria al tratamiento con farmacos antiepilepticos que no son candidatos a cirugia de reseccion. Objetivo. Analizar la eficacia del estimulador vagal en los pacientes pediatricos de nuestro centro. Pacientes y metodos. Conjunto de 13 pacientes implantados entre los años 2008 y 2013. Se registro la frecuencia de crisis previa a la implantacion, al año, a los dos años y al final del seguimiento. Asimismo, se recogio el numero de farmacos antiepilepticos utilizados, de forma cualitativa la mejoria conductual y el cambio en la intensidad de las crisis, asi como la aparicion de efectos secundarios y la retirada o no del dispositivo. Resultados. Al año, a los dos años y al final del seguimiento se habia producido una reduccion en el numero de crisis del 61%, 66,7% y 69%, respectivamente, y uno de los pacientes se encontro libre de crisis a los dos años. Al final del seguimiento, un 23% de los que habian disminuido sus crisis habia experimentado una reduccion superior al 90%. De forma independiente al efecto sobre el numero de crisis, el 77% de los pacientes presento una mejoria en la intensidad y duracion de las crisis, y ese mismo porcentaje mostro una mejoria conductual. Los efectos secundarios aparecieron en un 30,7% de los pacientes y fueron de intensidad leve. Conclusiones. A pesar del pequeño tamaño de la muestra, nuestros resultados indican que el estimulador vagal tiene una eficacia relevante en la poblacion pediatrica farmacorresistente, tanto sobre la frecuencia e intensidad de las crisis como sobre la conducta.

Description and life cycle of a new Physarum (Myxomycetes) from the Atacama Desert in Chile.

A new species of Physarum (Myxomycetes), Physarum atacamense is described in this paper, and details are provided on its life cycle as observed in spore-to-spore culture in agar. The new species was collected during studies of the Atacama Desert in Chile. It has been collected directly in the field and isolated in moist chamber cultures prepared with material from an endemic cactus. The combination of characters that make this species unique in the genus are its large fusiform nodes of the capillitium, its long, bicolored stalk and the very dark brown and densely warted angular spores. The morphology of specimens of this myxomycete was examined with scanning electron microscopy and light microscopy, and micrographs of relevant details and life cycle stages are included in this paper. The importance of resistant stages in the life cycle of this myxomycete is stressed, and the close association of this myxomycete with its plant substrates is discussed.

Spore to spore culture of Didymium operculatum, a new Myxomycete from the Atacama Desert of Chile.

A new species of Didymium (Myxomycetes), D. operculatum, is described in this paper, and details of its life cycle are provided. The new species was recorded during studies of the Atacama Desert in Chile. It has been collected directly in the field and isolated in moist chamber cultures prepared with material from an endemic cactus. The distinguishing characters of this species are its dehiscence by means of an apical operculum combined with a whitish calcareous stalk and the banded reticulate ornamentation of the spores. The morphology of this new myxomycete was examined with scanning electron microscopy and light microscopy, and micrographs of relevant details are included in this paper. Some comments are made on the patterns of distribution of Didymium species in arid lands and adaptive characters enabling this genus to colonize such extreme environments. It is proposed that a longer cycle and the ability to resort to resistant forms many times during their development reflect the response of these myxomycetes to the largely unfavorable conditions of their environment.

Licea eremophila, a new myxomycete from arid areas of South America.

A new stipitate species of myxomycete of the genus Licea is described based on material from arid areas in Argentina and Chile. It was isolated from moist chamber cultures and found fruiting on field collections, usually on the same substrate, Puya sp. (Bromeliaceae). It differs from all described species in the genus in that it has stipitate sporocarps with dehiscence by defined preformed platelets and a smooth inner peridial surface. The new species has polyhedral, yellow spores with a uniform thick spore wall and dense warts except on irregularly dispersed raised bands with fewer warts, visible by SEM, an ornamentation not previously observed in the genus. Life-cycle events are described and illustrated, from germination to sporulation, based on moist chamber and agar cultures. The morphology of the myxomycete specimens was examined with scanning electron microscopy and light microscopy, and both light and SEM micrographs of relevant details are included.

Description and life cycle of a new Didymium (Myxomycetes) from arid areas of Argentina and Chile.

A new species of Didymium (Myxomycetes), D. infundibuliforme, is described herein, and details are provided on its life cycle as observed in spore to spore culture on agar. The new species was recorded during intensive studies of areas of the Monte Desert in Argentina and the Atacama Desert in Chile. It has been collected directly in the field in both countries on several occasions over 4 y and isolated in moist chamber cultures prepared with material from native plant species. The characters that make this species unique in the genus are its funnel-shape sporocarps with white stalks, the apical circumscissile dehiscence of the sporotheca that causes the base to resemble a calyculus and the ornamentation on the spores. The morphology of specimens of this new myxomycete was examined with scanning electron microscopy and light microscopy, and micrographs of relevant details are included in this paper.

[How valuable are genetic studies in paediatric neurology?]. / Hasta dónde con los estudios genéticos en neurología pediátrica?

INTRODUCTION AND DEVELOPMENT: Paediatric neurology is fully aware of the fact that important advances in genetics are being applied to the clinical and prenatal diagnoses of a wide range of diseases. The discovery of new genes related to a growing number of pathologies with neurological implications opens up new diagnostic approaches and provides information that is very useful in the process of detecting carriers and identifying pre-symptomatic individuals. More selective genetic techniques with higher resolutions are increasingly more commonly available in genetic laboratories, as is the possibility of sequencing and searching for specific mutations in certain genes; for some processes their application to clinical practice has made them the initial diagnostic approach. A precise clinical orientation and knowledge of their applications and limitations is essential, and requires an increasingly close relationship between clinicians and geneticists in order to design a tailored diagnostic protocol that offers a rational balance between technical availability, cost, time and relevance of the findings. CONCLUSIONS: We discuss some of the current aspects and considerations about advances in specific neuropaediatric pathologies, within the group of neuromuscular disorders, mental retardation, autism spectrum disorders and epilepsy.

¿Hasta dónde con los estudios genéticos en neurología pediátrica? / How valuable are genetic studies in paediatric neurology?

Introducción y desarrollo. La neurología pediátrica no ha permanecido ajena a la aplicación de los grandes avances genéticos al diagnóstico clínico y prenatal de una amplia variedad de enfermedades. El descubrimiento de nuevos genes relacionados con un número creciente de patologías con implicaciones neurológicas ofrece nuevos planteamientos diagnósticos y provee una información de gran utilidad en el proceso de detección de portadores e identificación de individuos presintomáticos. La disponibilidad de técnicas genéticas más selectivas y de mayor resolución, así como la posibilidad de secuenciación y búsqueda de mutaciones concretas para algunos genes, es cada vez mayor en los laboratorios de genética, y su aplicación a la clínica ha permitido que para algunos procesos suponga la aproximación diagnóstica inicial. Una orientación clínicaprecisa, y el conocimiento de sus aplicaciones y limitaciones es fundamental y, cada vez más, exige una estrecha relación entre clínicos y genetistas para el diseño individualizado de un protocolo diagnóstico que ofrezca un equilibrio racional entre disponibilidad técnica, coste, tiempo y relevancia de los hallazgos. Conclusiones. Se plantean algunos aspectos actuales y reflexiones sobre avances en patologías neuropediátricas concretas, dentro del grupo de los trastornos neuromusculares, retraso mental, trastornos del espectro autista y epilepsia

Introduction and development. Paediatric neurology is fully aware of the fact that important advances in genetics are being applied to the clinical and prenatal diagnoses of a wide range of diseases. The discovery of new genes related to a growing number of pathologies with neurological implications opens up new diagnostic approaches and provides information that is veryuseful in the process of detecting carriers and identifying pre-symptomatic individuals. More selective genetic techniques with higher resolutions are increasingly more commonly available in genetic laboratories, as is the possibility of sequencing andsearching for specific mutations in certain genes; for some processes their application to clinical practice has made them the initial diagnostic approach. A precise clinical orientation and knowledge of their applications and limitations is essential, and requires an increasingly close relationship between clinicians and geneticists in order to design a tailored diagnostic protocol that offers a rational balance between technical availability, cost, time and relevance of the findings. Conclusions. We discuss some of the current aspects and considerations about advances in specific neuropaediatric pathologies, within the group of neuromuscular disorders, mental retardation, autism spectrum disorders and epilepsy

Deficiencia del transportador de glucosa tipo I: una enfermedad neurometabólica tratable / Glucose transporter type 1 deficiency: a treatable neuro-metabolicdisorder

No disponible

Asociación del espectro autista con patología mitocondrial / Association between autistic spectrum and mitochondrial pathology

No disponible

Aspectos actuales de los trastornos de la cadena respiratoria mitochondrial durante la infancia y adolescencia / Current aspects of mitochondrial respiratory chain disorders during childhood and adolescence

Se realiza una revisión actualizada sobre los aspectos genéticos, bioquímicos, clínicos, diagnósticos y terapéuticos básicos de las citopatías mitocondriales debidas a deficiencia de los complejos de la cadena respiratoria mitocondrial y con expresividad clínica durante la infancia y/o adolescencia. A efectos de exposición se sistematizan los aspectos clínicos en dos amplios grupos o apartados: citopatías mitocondriales debidas a alteraciones del ADN mitocondrial (ADNmt) y citopatías mitocondriales secundarias a alteraciones del ADN nuclear (ADNn), aportando algunas reflexiones sobre la importancia de estos procesos en este margen de edad (AU)

We carry out a review of the current basic genetic, biochemical, clinical, diagnostic and therapeutic aspects of mitocondrial cytopathies due to deficiencies in the mitocondrial cytopathies due to deficiencies in the mitocondrial respiratory chain complexes, which appear clinically during childhood and/or adolescence. The clinical description has been divided into two groups: mitochondrial cytopathies secondary to alterations of mitochondrial DNA (mtDNA) and mitochondrial cytopathies secondary to alterations of the nuclear DNA (nDNA) and we considering about the importance of such conditions at this age (AU)