Current Issue Table of Contents: Brain and Development
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Visual snow (VS) is defined as dynamic, continuous tiny dots across the entire visual field persisting for more than three months. VS is frequently associated with enhanced entoptic phenomenon, palinopsia, photophobia and night blindness. This constellation of symptoms is now referred to as visual snow syndrome (VSS). VSS is reported to affect approximately 2 % of the UK population. Neuroimaging has contributed to a better understanding of VSS disease mechanism. While the dysfunction of visual association area is likely to play a pivotal role in its pathophysiology, functional and microstructural abnormalities extend beyond the visual system.
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Neurodevelopmental disorders (NDDs) are often referred to as “synaptopathies” because many of their behavioral symptoms arise from impaired synaptic development and function. However, the mechanisms that connect synaptic dysfunction to neurological symptoms remain unclear, mainly due to the wide variety of genetic and environmental factors involved in these disorders. Fragile X syndrome and Rett syndrome, two extensively studied monogenic NDDs, provide a unique opportunity to explore these mechanisms at molecular, cellular, and synaptic levels.
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Opening pressure in lumbar puncture (LP) is an important parameter in the diagnosis of various neurological diseases. In children pressures may vary according to age. This study aimed to analyze the variation of opening pressure in LP according to age in children.
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This study explored the potential of miRNA-134-3p and miRNA-155-5p as biomarkers for assessing seizure severity in children.
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Recent advancements in molecular biology and radiology have led to the identification of several new leukodystrophies. A key diagnostic feature of leukodystrophies is the increased white matter signal intensity observed on T2-weighted magnetic resonance (MR) images. Leukodystrophies are typically classified into two main categories: hypomyelinating leukodystrophies (HLD) and other forms, including demyelinating leukodystrophies. HLD is characterized by a primary defect in myelin due to genetic variants that affect structural myelin proteins, oligodendrocyte transcription factors, RNA translation, and lysosomal proteins.
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Tubulin plays an important role in cell morphogenesis and chromosomal segregation. Tubulinopathies are caused by pathogenic TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBB, and TUBG1 variants. Although radiological features and genotype–phenotype correlations of tubulinopathy have been described, clinical severity by genotype has not been described in detail. Herein, we discuss the correlations between the clinical and radiological features of head MRI of patients with tubulinopathy and its clinical severity by genotype.
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ZMYM2 heterozygous pathogenic variants cause an ultra-rare disease characterized by a broad clinical phenotype. This condition has been named neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC, MIM#619522). Associated anomalies include congenital abnormalities of the kidney and urinary tract (CAKUT), non-specific facial, cardiac, and skeletal abnormalities, along with a variety of neurodevelopmental disorders. Other abnormalities reported in some patients include infantile hypotonia, poor growth, microcephaly, hypospadias, and motor stereotypies.
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FOXP1 syndrome is a rare neurodevelopmental disorder associated with a range of cognitive, behavioural, and physical consequences, including autism spectrum disorder and associated symptomatology. This scoping review aims to explore the prevalence and characteristics of autism and autism-like features in individuals with FOXP1 syndrome. A comprehensive literature search identified 15 studies encompassing 103 participants. Of these, 13 studies (n = 76 participants) detailed autism spectrum disorder diagnostic information, and 13 studies (n = 37 participants) detailed information at the symptom level.
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Ryanodine receptor 1 (RYR1)-related myopathy is inherited in an autosomal dominant (AD) or recessive (AR) manner. We experienced two sporadic cases of RYR1-related myopathy. One patient harbored a de novo missense variant, whereas the other harbored compound heterozygous variants inherited from each parent. The possibility of dual inheritance makes it challenging to distinguish between these two inheritance patterns based only on clinical information.
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To clarify the difference in clinical-radiological features between neonatal-onset arterial ischemic stroke (AIS) and presumed neonatal AIS with a normal neonatal neurological history.
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Rett syndrome is a genetic neurodevelopmental disorder that predominantly affects girls. While microcephaly is a common feature, there is limited information on the detailed structural changes in the brain. This study aimed to identify regional brain volume abnormalities and explore the correlation between brain volume and clinical characteristics.
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Head magnetic resonance imaging (MRI) is of critical importance in the diagnosis and management of neurodevelopmental disorders. However, the use of sedation in affected children can present a significant challenge.
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BVVLS (Brown-Vialetto-Van Laere syndrome), a rare genetic condition characterized by progressive neuropathy, is caused by defects in SLC52A2 and SLC52A3 genes coding for hRFVT-2 and hRFVT-3.
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Childhood migraine is a recurrent neurobiological complex disease and caused by multiple genetic and environmental factors. In this study, the clinical relevance of ICHD-3 diagnostic criteria, familial history of migraine and motion sickness was investigated.
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Migraine is a common neurological disorder in children, significantly impacting quality of life and academic performance. The kynurenine pathway, a major metabolic route of tryptophan, plays a critical role in neuroinflammation and neurotransmission, yet its involvement in pediatric migraine remains unexplored. This study aims to investigate alterations in kynurenine pathway metabolites in children with migraine and assess their correlation with headache frequency and severity.
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We aimed to investigate structural changes in the hippocampus using automated segmentation techniques to evaluate the anatomy and function of the hippocampus in patients with West syndrome (WS).
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The aim of this study was to develop a manual for an upper extremity intensive rehabilitation program for pediatric hemiplegia in Japan, and to clarify its effectiveness and usability.
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Early-onset scoliosis, which develops before 2 years of age and progresses rapidly, has been reported as an inevitable complication in spinal muscular atrophy (SMA) patients with 2 copies of the survival motor neuron 2 (SMN2) gene that receive post-onset disease-modifying therapy (DMT) within 6 months after birth. We describe a case of SMA type 0 in a patient with 2 copies of SMN2 that was treated with nusinersen, in which the patient's motor function improved and no progression of spinal deformity was observed.
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