Presentación atípica de encefalopatía epiléptica infantil precoz asociada al gen KCNT1 / Atypical presentation of early childhood epileptic encephalopathy associated with the gene KCNT1

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Molecular characterization of Spanish patients with MECP2 duplication syndrome.

MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset hypotonia and diverse psycho-motor and behavioural features. To date, fewer than 200 cases have been published. We report the clinical and molecular characterization of a Spanish MDS cohort that included 19 boys and 2 girls. Clinical suspicions were confirmed by array comparative genomic hybridization and multiplex ligation-dependent probe amplification (MLPA). Using, a custom in-house MLPA assay, we performed a thorough study of the minimal duplicated region, from which we concluded a complete duplication of both MECP2 and IRAK1 was necessary for a correct MDS diagnosis, as patients with partial MECP2 duplications lacked some typical clinical traits present in other MDS patients. In addition, the duplication location may be related to phenotypic severity. This observation may provide a new approach for genotype-phenotype correlations, and thus more personalized genetic counselling.

Neurofibromatosis 1 y cavernomatosis múltiple familiar en un lactante con sialorrea profusa episódica / Neurofibromatosis 1 and multiple familial cavernomatosis in an infant with episodic profuse sialorrhoea

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Mitos y evidencias en el empleo de la toxina botulínica: neurofarmacología y distonías / Myths and evidence on the use of botulinum toxin: neuropharmacology and dystonia

Introducción. La toxina botulínica de tipo A (TBA) ha supuesto una verdadera revolución terapéutica en neurología, y en la actualidad es el tratamiento rutinario en las distonías focales y la espasticidad. Objetivo. Plantear, revisar y responder cuestiones controvertidas en relación con la neurofarmacología de a TBA y su uso en las distonías en la práctica clínica habitual. Desarrollo. Un grupo de expertos en trastornos del movimiento revisó una lista de temas controvertidos relacionados con la farmacología de la TBA y su uso en las distonías. Revisamos la bibliografía e incluimos artículos relevantes especialmente en inglés, pero también, si su importancia lo merece, en castellano y en francés, hasta junio de 2016. El documento se estructuró como un cuestionario que incluyó las preguntas que podrían generar mayor controversia o duda. El borrador inicial del documento fue revisado por los miembros del panel y se realizaron las modificaciones necesarias hasta alcanzar el mayor grado de consenso. Incluimos preguntas sobre diferentes aspectos de la neurofarmacología, especialmente el mecanismo de acción, la bioequivalencia de los diferentes preparados y la inmunogenicidad. En relación con el subapartado de las distonías, se incluyeron aspectos sobre la evaluación y el tratamiento de las distonías focales. Conclusiones. Esta revisión no pretende ser una guía, sino una herramienta práctica destinada a neurólogos y médicos internos residentes interesados en esta área, dentro de diferentes ámbitos específicos del manejo de la TBA (AU)

Introduction. Botulinum toxin type A (BTA) is a bacterial endotoxin, whose therapeutic use has had a dramatic impact on different neurological disorders, such as dystonia and spasticity. Aim. To analyze and summarize different questions about the use of BTA in our clinical practice. Development. A group of experts in neurology developed a list of topics related with the use of BTA. Two groups were considered: neuropharmacology and dystonia. A literature search at PubMed, mainly for English language articles published up to June 2016 was performed. The manuscript was structured as a questionnaire that includes those questions that, according to the panel opinion, could generate more controversy or doubt. The initial draft was reviewed by the expert panel members to allow modifications, and after subsequent revisions for achieving the highest degree of consensus, the final text was then validated. Different questions about diverse aspects of neuropharmacology, such as mechanism of action, bioequivalence of the different preparations, immunogenicity, etc. were included. Regarding dystonia, the document included questions about methods of evaluation, cervical dystonia, blepharospasm, etc. Conclusion. This review does not pretend to be a guide, but rather a tool for continuous training of residents and specialists in neurology, about different specific areas of the management of BTA (AU)

Mitos y evidencias en el empleo de la toxina botulínica: espasticidad del adulto y del niño con parálisis cerebral / Myths and evidence on the use of botulinum toxin: spasticity in adults and in children with cerebral palsy

Introducción. La espasticidad es un problema médico frecuente que impacta de forma significativa en la calidad de vida de los pacientes y sus familias. Objetivo. Analizar y dar respuesta a diferentes cuestiones en el uso de la toxina botulínica tipo A (TBA) en nuestra práctica clínica habitual. Desarrollo. Un grupo de expertos en neurología elaboró una lista de temas relacionados con el uso de la TBA. Se consideraron dos grandes bloques: espasticidad del adulto y del niño con parálisis cerebral. Se realizó una revisión de la bibliografía que incluyó los diferentes artículos publicados en español, inglés y francés hasta junio de 2016. El documento se estructuró como un cuestionario que incluyó las preguntas que, según el criterio del panel, podrían generar mayor controversia o duda. El borrador inicial del documento fue revisado por los miembros del panel y se realizaron las modificaciones necesarias hasta alcanzar el mayor grado de consenso. A continuación, el texto final fue validado. Se incluyeron diferentes preguntas sobre diferentes aspectos de la espasticidad en adultos: evaluación de la espasticidad, técnicas de infiltración, dosis, número de puntos, etc. En cuanto a la espasticidad en los niños con parálisis cerebral, se analizaron preguntas como: edad mínima de infiltración, métodos de sedoanalgesia, etc. Conclusiones. Esta revisión constituye una herramienta para neurólogos, médicos rehabilitadores y residentes de ambas especialidades, dentro de diferentes ámbitos específicos del manejo de la TBA (AU)

Introduction. Spasticity is a medical problem with a high incidence that significantly impact on the quality of life of patients and their families. Aim. To analyze and to answer different questions about the use of botulinum toxin type A (BTA) in our clinical practice. Development: A group of experts in neurology develop a list of topics related with the use of BTA. Two big groups were considered: spasticity in adults and in children with cerebral palsy. A literature search at PubMed for English, French, and Spanish language articles published up to June 2016 was performed. The manuscript was structured as a questionnaire that includes those questions that, according to the panel opinion, could generate more controversy or doubt. The initial draft was reviewed by the expert panel members to allow for modifications, and after subsequent revisions for achieving the highest degree of consensus, the final text was then validated. Different questions about diverse aspects of spasticity in adults, such as methods for evaluating spasticity, infiltration techniques, doses, number of infiltration points, etc. Regarding spasticity in children with cerebral palsy, the document included questions about minimum age of infiltration, methods of analgesia, etc. Conclusions: This review is a tool for continuous training for neurologist and rehabilitation specialist and residents of both specialties, about different specific areas of the management of BTA (AU)

Paraparesia espástica progresiva y siringomielia estática: síndrome de Silver/SPG17 / Progressive spastic paraparesis and static syringomyelia: Silver syndrome/SPG17

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Síndrome de Cockayne: una nueva mutación en el gen ERCC8 / Cockayne syndrome: a new mutation in the ERCC8 gene

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Síndrome de cefalea y déficits neurológicos transitorios con linfocitosis en líquido cefalorraquídeo asociado a papiledema / Syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis associated to papilloedema

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CAPN3 mutations in patients with idiopathic eosinophilic myositis.

OBJECTIVE: Eosinophilic myositis (EM) constitutes a rare pathological entity characterized by eosinophilic infiltration of skeletal muscles, usually associated with parasite infections, systemic disorders, or the intake of drugs or L-tryptophan. The exclusion of such causes defines the spectrum of idiopathic EM. Based on a protein analysis performed in one affected patient, we identified the gene encoding calpain-3, CAPN3, as a candidate for a subset of idiopathic EM. METHODS: We screened CAPN3 for mutations using DHPLC and direct sequencing in six unrelated patients, recruited for EM diagnosed after histological examination of muscle biopsy samples, without any identified causative factor. RESULTS: We identified CAPN3 mutations in the six unrelated patients originally diagnosed with idiopathic EM. INTERPRETATION: Mutations in CAPN3 can cause EM. Thus, a subset of idiopathic EM is genetically determined, with an autosomal recessive mode of inheritance. Patients presented with a triad that appears to be indicative of CAPN3 mutations: (1) EM in the first decade, (2) elevated serum creatine phosphokinase levels (isolated or with little corresponding weakness), and (3) inconstant peripheral hypereosinophilia. However, that EM represents a distinct phenotype associated to CAPN3 mutations or, rather, an early histopathological picture of LGMD2A must be further evaluated. Our findings should be of interest toward further investigating the role of calpain-3 in skeletal muscle. Furthermore, patients with idiopathic EM should undergo calpain-3 protein analysis and be considered for subsequent molecular analysis of the CAPN3 gene.