Publications by authors named "Gustavo Lorenzo Sanz"

Acute spinal cord infarct in childhood is extremely rare, generally secondary to spinal/cardiovascular surgery or severe vertebral injuries. However, spontaneous spinal cord infarct cases have been described. We present a clinical case of a teenager who developed an acute weakness and paraesthesia in lower limbs after playing piggyback.

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Background: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration.

Methods: In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol.

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Introduction: A convulsive status in infants is usually triggered by a febrile syndrome secondary to an intercurrent infection or an infection affecting the central nervous system. Shaken baby syndrome is characterised by its association with bilateral or multifocal haemorrhage, retinal haemorrhage and encephalopathy. Children under one year old are the group with the highest risk, with a maximum incidence reaching a peak between 10 and 16 weeks of age.

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Introduction: A number of genetic and neuroimagen proofs support the idea that attention-deficit/hyperactivity disorder (ADHD) present a neurobiological alteration. Vesicular monoamine transporters (VMATs) are important proteins that regulate the intraneuronal monoamine concentration and disposition as this protein sequesters cytoplasmic dopamine within synaptic vesicles thus contributing to subsequent excitotoxic release.

Development: Two pharmacologically distinct VMAT isoforms VMAT1 and VMAT2 have been cloned and described.

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