Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families
Recessive forms of megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare early-onset leukodystrophy that presents with macrocephaly, seizures, slowly progressive gross motor deterioration, and MRI evidence of diffuse symmetric white matter swelling and subcortical cysts in the anterior temporal and frontoparietal regions. Later in the disease course, significant spasticity and ataxia develop, which may be accompanied by intellectual deterioration. This disease is caused mostly by biallelic pathogenic variants in the MLC1 gene. (Source: Brain and Development)
Source: Brain and Development - April 16, 2022 Category: Neurology Authors: Reham Khalaf-Nazzal, Imad Dweikat, Mosab Maree, Maysa Alawneh, Myassar Barahmeh, Rasha T. Doulani, Mohammad Qrareya, Mohammad Qadi, Anwar Dudin Tags: Original article Source Type: research
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review
De novo mutations in the GABBR2 (Gamma-Aminobutyric acid Type B Receptor Subunit 2) gene have recently been reported to be associated with a form of early-infantile epileptic encephalopathy (EIEE59; OMIM# 617904), as well as a Rett syndrome (RTT)-like disorder defined as a neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS; OMIM# 617903). (Source: Brain and Development)
Source: Brain and Development - April 9, 2022 Category: Neurology Authors: Gianluca D'Onofrio, Antonella Riva, Gabriella Di Rosa, Elisa Cali', Stephanie Efthymiou, Eloisa Gitto, Francesca Madia, Andrea Accogli, Federico Zara, Henry Houlden, Vincenzo Salpietro, Pasquale Striano, Doriette Soler Tags: Case Report Source Type: research
Copy number assessment of SMN1 based on real-time PCR with high-resolution melting: fast and highly reliable testing
Spinal muscular atrophy (SMA) is a neuromuscular disease mainly caused by the absence of both copies of the survival motor neuron 1 (SMN1) gene. Multiple regions recommended population-wide SMA screening to quantify the copy number of SMN1. SMN1 diagnostic assays for the simplified procedure, high sensitivity, and throughput continue to be needed. (Source: Brain and Development)
Source: Brain and Development - April 9, 2022 Category: Neurology Authors: Ying Xu, Tingting Song, Xiaozhou Wang, Jiao Zheng, Yu Li, Fenfen Guo, Yuanfeng Li, Zijian Guo, Yaling Dou, Yu Wang, Ye Zhao, Hong Yang Tags: Original article Source Type: research
A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome
The PRRT2 gene located at 16p11.2 encodes proline-rich transmembrane protein 2. In recent reviews, clinical spectrum caused by pathogenic PRRT2 variants is designated as PRRT2-associated paroxysmal movement disorders, which include paroxysmal kinesigenic dyskinesia, benign familial infantile epilepsy, and infantile convulsions with choreoathetosis, and hemiplegic migraine. The recurrent 16p11.2 microdeletion encompassing PRRT2 has also been reported to cause neurodevelopmental syndrome, associated with autism spectrum disorder. (Source: Brain and Development)
Source: Brain and Development - April 7, 2022 Category: Neurology Authors: Kazuyuki Komatsu, Shinobu Fukumura, Kimio Minagawa, Mitsuko Nakashima, Hirotomo Saitsu Tags: Case Report Source Type: research
Surgery for intractable epilepsy after severe encephalopathy with reversible splenial lesion and new onset hippocampal lesion associated with parechovirus
We describe a case of severe encephalopathy with reversible splenial lesion associated with parechovirus, followed by intractable temporal lobe epilepsy (TLE), which was improved by epilepsy surgery. A 3-year-old girl was admitted because of fever, consciousness disturbance and generalized tonic clonic seizure. Her seizure lasted for four hours. Fluid-attenuated inversion recovery (FLAIR) showed a hyperintensity in the splenium of the corpus callosum. Electroencephalogram (EEG) demonstarated continuous diffuse epileptic activity represented by synchronous and rhythmic high-amplitude spikes and waves, which led to the diagn...
Source: Brain and Development - April 4, 2022 Category: Neurology Authors: Yasushi Iimura, Mika Nakazawa, Hiroharu Suzuki, Takumi Mitsuhashi, Tetsuya Ueda, Koichiro Sakamoto, Kazuki Nishioka, Kou Horikoshi, Hidenori Sugano Tags: Case Report Source Type: research
Pseudotumor cerebri syndrome in children: Clinical characteristic and re-classification
To describe the clinical characteristics of children with pseudotumor cerebri syndrome (PTCS) who were diagnosed according to the modified Dandy criteria and to reclassify them according to the newly proposed diagnostic criteria by Freidman. (Source: Brain and Development)
Source: Brain and Development - April 4, 2022 Category: Neurology Authors: Amira Masri, Mira Al Jaberi, Raghad Shihadat, Abdallah Rayyan, Mohammad AlMasri, Lina Abuna'meh, Majd Ali, Nosaiba Al ryalat, Azmy Hadidy, Ashjan ahmad Al-Shakkah Tags: Original article Source Type: research
Impairment of autonomic emotional response for executive function in children with ADHD: A multi-modal fNIRS and pupillometric study during the Wisconsin Card Sorting Test
Children with attention deficit hyperactivity disorder (ADHD) often experience difficulties with emotional control and a consequent inability to perform tasks. To clarify the effects of emotional behavior on cognitive functions, we aimed to determine the association between emotional changes and executive functions in children with ADHD by measuring the pupil diameter changes associated with emotional changes. (Source: Brain and Development)
Source: Brain and Development - April 4, 2022 Category: Neurology Authors: Yoshimi Kaga, Tetsuo Ohyama, Yusuke Goto, Kakuro Aoyagi, Sayaka Ishii, Takeshi Inukai, Masao Aihara Tags: Original article Source Type: research
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1
Next generation sequencing technologies allow detection of very rare pathogenic gene variants and uncover cerebral palsy. Herein, we describe two siblings with cerebral palsy due to ELOVL1 splice site mutation in autosomal recessive manner. ELOVL1 catalyzes fatty acid elongation to produce very long-chain fatty acids (VLCFAs; ≥C21), most of which are components of sphingolipids such as ceramides and sphingomyelins. Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies (MIM: 618527) stem from ELOVL1 gene deficiency in human. (Source: Brain and Development)
Source: Brain and Development - April 1, 2022 Category: Neurology Authors: Taiko Takahashi, Sevcan Mercan, Takayuki Sassa, G ünseli Bayram Akçapınar, Kanay Yararbaş, Seda Süsgün, Sibel Aylin Uğur İşeri, Akio Kihara, Nihan Hande Akçakaya Tags: Original article Source Type: research
Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause
Methyl-CpG binding protein 2 gene (MECP2) is located on the X chromosome (Xq28) and is important for nervous and immune system functioning. Patients with MECP2 duplication syndrome (MDS) have recurrent respiratory infections (RRIs). Although RRIs often occur with MDS because some patients with MDS also have hypoimmunoglobulinemia and duplication of the in terleukin-1-receptor-associated kinase-1 gene (IRAK1), which is also located on Xq28, the phenotype of IRAK1 duplication in patients with MDS remains unclear. (Source: Brain and Development)
Source: Brain and Development - March 26, 2022 Category: Neurology Authors: Ryo Sugitate, Kazuhiro Muramatsu, Tomomi Ogata, Masahide Goto, Shin Hayashi, Noriko Sawaura, Masako Kawada-Nagashima, Atsushi Matsui, Takanori Yamagata Tags: Case Report Source Type: research
Arterial spin labeling perfusion imaging in an infant with anti-N-methyl-D-aspartate receptor encephalitis: A case report
Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is an autoimmune encephalitis characterized by complex neuropsychiatric syndromes and the presence of cerebrospinal fluid (CSF) antibodies against NMDAR. The characteristics of anti-NMDAR encephalitis in children, particularly infants, are unclear due to difficulties in neurologic assessment such as psychiatric symptoms. Additionally, subtle or non-specific findings of conventional magnetic resonance imaging (MRI) make early diagnosis even more difficult. (Source: Brain and Development)
Source: Brain and Development - March 25, 2022 Category: Neurology Authors: Yuriko Watanabe, Fumikazu Sano, Toshimichi Fukao, Tatsuya Shimizu, Emi Sawanobori, Anna Kobayashi, Kaoru Fujioka, Hideaki Yagasaki, Takeshi Inukai, Yoshimi Kaga Tags: Case Report Source Type: research
Early therapeutic plasma exchange may lead to complete neurological recovery in moderate to severe influenza-associated acute necrotizing encephalopathy
Acute necrotizing encephalopathy (ANE) is a pediatric neurological disease, presumably caused by cytokine storms, with a poor prognosis. Immunomodulatory therapy, including therapeutic plasma exchange (TPE), could be an effective treatment. (Source: Brain and Development)
Source: Brain and Development - March 22, 2022 Category: Neurology Authors: Kie Okajima, Itaru Hayakawa, Norihiko Tsuboi, Kisho Shimura, Akira Ishiguro, Yuichi Abe Tags: Case Report Source Type: research
Editorial Board
(Source: Brain and Development)
Source: Brain and Development - March 15, 2022 Category: Neurology Source Type: research
Cover
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Source: Brain and Development - March 15, 2022 Category: Neurology Source Type: research
Contents
(Source: Brain and Development)
Source: Brain and Development - March 15, 2022 Category: Neurology Source Type: research
The influence of intelligence and cognitive abilities on the reading ability of Japanese students with developmental disorders
We examined the differences in reading skills between Japanese students with developmental dyslexia (DD) having developmental disorders who had borderline IQ (BIQ) and those who had normal IQ (NIQ), and the influence of cognitive factors through subscale scores of the Wechsler Intelligence Scale for Children - Fourth Edition on the reading skills of all students with DD having developmental disorders. (Source: Brain and Development)
Source: Brain and Development - March 15, 2022 Category: Neurology Authors: Daisuke Yamaguchi, Michio Hiratani, Naomi Matsuura, Takashi X. Fujisawa, Shinichiro Takiguchi, Toru Fujioka, Toshihiro Kono, Ikuyo Ishizaka, Akemi Tomoda Tags: Original article Source Type: research
