Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants
ST3GAL5 encodes GM3 synthase (ST3 beta-galactoside alpha-2,3-sialyltransferase 5; ST3GAL5), which synthesizes GM3 by transferring sialic acid to lactosylceramide. GM3, a sialic acid-containing glycosphingolipid known as ganglioside, is a precursor to the biosynthesis of various more complex gangliosides that are active in the brain. Biallelic variants in ST3GAL5 cause GM3 synthase deficiency (GM3SD), a rare congenital disorder of glycosylation. GM3SD was first identified in the Amish population in 2004. (Source: Brain and Development)
Source: Brain and Development - January 21, 2023 Category: Neurology Authors: Shiena Watanabe, Ming Lei, Eiji Nakagawa, Eri Takeshita, Kei-Ichiro Inamori, Fumi Shishido, Masayuki Sasaki, Satomi Mitsuhashi, Naomichi Matsumoto, Yuiko Kimura, Masaki Iwasaki, Yuji Takahashi, Hidehiro Mizusawa, Ohsuke Migita, Isao Ohno, Jin-ichi Inokuch Tags: Original article Source Type: research
Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality
Heterozygous KCNQ2 variants cause benign familial neonatal seizures and early-onset epileptic encephalopathy in an autosomal dominant manner; the latter is called KCNQ2 encephalopathy. No case of KCNQ2 encephalopathy with arthrogryposis multiplex congenita has been reported. Furthermore, early-onset scoliosis and opisthotonus have not been documented as characteristics of KCNQ2 encephalopathy. (Source: Brain and Development)
Source: Brain and Development - January 9, 2023 Category: Neurology Authors: Osamu Kawano, Takashi Saito, Noriko Sumitomo, Eri Takeshita, Yuko Shimizu-Motohashi, Eiji Nakagawa, Kanako Mizuma, Sachiko Tanifuji, Toshiyuki Itai, Satoko Miyatake, Naomichi Matsumoto, Yuji Takahashi, Hidehiro Mizusawa, Masayuki Sasaki Tags: Case Report Source Type: research
Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4
Hyperkalemic periodic paralysis (HyperPP) is an autosomal dominantly inherited disease characterized by episodic paralytic attacks with hyperkalemia, and is caused by mutations of the SCN4A gene encoding the skeletal muscle type voltage-gated sodium channel Nav1.4. The pathological mechanism of HyperPP was suggested to be associated with gain-of-function changes for Nav1.4 gating, some of which are defects of slow inactivation. (Source: Brain and Development)
Source: Brain and Development - January 9, 2023 Category: Neurology Authors: Kazuki Segawa, Masahiro Nishiyama, Itsuki Mori, Tomoya Kubota, Masanori P. Takahashi Tags: Original article Source Type: research
Editorial Board
(Source: Brain and Development)
Source: Brain and Development - January 4, 2023 Category: Neurology Source Type: research
Cover
(Source: Brain and Development)
Source: Brain and Development - January 4, 2023 Category: Neurology Source Type: research
Contents
(Source: Brain and Development)
Source: Brain and Development - January 4, 2023 Category: Neurology Source Type: research
A preliminary study of the different memory systems in neurofibromatosis type 1: What is impaired and what is spared?
Since 1990's, the cognitive profile of children with a neurofibromatosis type 1 (NF1) has been refined by many different studies. Children with NF1 may exhibit a variety of cognitive dysfunctions. Memory difficulties have been reported, but the results are contradictory and, compared to other cognitive functions, memory has been less evaluated. (Source: Brain and Development)
Source: Brain and Development - January 4, 2023 Category: Neurology Authors: St éphanie Maziero, Mélanie Jucla, Mélody Blais, Jean-Michel Albaret, Jessica Tallet, Yves Chaix Tags: Original article Source Type: research
Perampanel therapy for intractable GRIN2D-related developmental and epileptic encephalopathy: A case report and literature review
N-methyl-d-aspartate receptors (NMDARs) are ligand-gated ion channels that mediate excitatory synaptic transmission and brain development in the central nervous system. Mutations in GRIN2D encoding the NMDAR subunit GluN2D are associated with a wide spectrum of neurodevelopmental disorders. (Source: Brain and Development)
Source: Brain and Development - December 24, 2022 Category: Neurology Authors: Jiaqing Li, Yalan Zhou, Tangfeng Su, Sanqing Xu Tags: Case Report Source Type: research
Two differential cavities in syringomyelia of pediatric Chiari I malformation presenting with unilateral foot drop
Patients with Chiari I malformation (CM1) may have chronic symptoms of syringomyelia, including numbness and weakness of the upper limbs, typically during young adulthood. Acute or subacute presentation of unilateral foot drop has been rarely reported as a first symptom of CM1-associated syringomyelia exclusively in childhood or adolescence. Why these patients do not show any symptoms of the upper limbs although holocord syringomyelia is always observed on magnetic resonance imaging (MRI) is unclear. (Source: Brain and Development)
Source: Brain and Development - December 16, 2022 Category: Neurology Authors: Naoya Higuchi, Takuji Nakamura, Fumitaka Yoshioka, Masafumi Sanefuji, Muneaki Matsuo Tags: Case Report Source Type: research
Sialic acid and anti-ganglioside M1 antibodies are invaluable biomarkers correlated with the severity of autism spectrum disorder
Autism spectrum disorders (ASD) are devastating neurodevelopmental disorders that showed global increased prevalence. They are characterized by impairment of social communication and stereotyped patterns. (Source: Brain and Development)
Source: Brain and Development - December 13, 2022 Category: Neurology Authors: Engy A. Ashaat, Sahar Sabry, Moushira E. Zaki, Ramy Mohamed, Hoda A. Abdelsattar, Somia A. Bawady, Neveen A. Ashaat, Walaa Elnaggar, Mona M.F. Ganem, Hazem M. El-Hariri, Hala T. El-Bassyouni, Dina Amin Saleh Tags: Original article Source Type: research
Editorial Board
(Source: Brain and Development)
Source: Brain and Development - December 9, 2022 Category: Neurology Source Type: research
New Year ’s Greetings
We wish a Happy New Year 2023 to the readers of Brain& Development, an official journal of the Japanese Society of Child Neurology. (Source: Brain and Development)
Source: Brain and Development - December 9, 2022 Category: Neurology Authors: Katsuhiro Kobayashi Tags: Editorial Source Type: research
Cover
(Source: Brain and Development)
Source: Brain and Development - December 9, 2022 Category: Neurology Source Type: research
Contents
(Source: Brain and Development)
Source: Brain and Development - December 9, 2022 Category: Neurology Source Type: research
Muscle impairment in MRI affect variability in treatment response to nusinersen in patients with spinal muscular atrophy type 2 and 3: A retrospective cohort study
Real-world data have shown variability in treatment responses to nusinersen in spinal muscular atrophy (SMA). We investigated whether the magnitude of muscle impairment assessed by magnetic resonance imaging (MRI) at baseline can predict the treatment response. (Source: Brain and Development)
Source: Brain and Development - November 29, 2022 Category: Neurology Authors: Yuko Shimizu-Motohashi, Emiko Chiba, Katsuhiro Mizuno, Hiroyuki Yajima, Akihiko Ishiyama, Eri Takeshita, Noriko Sato, Mari Oba, Masayuki Sasaki, Shuichi Ito, Hirofumi Komaki Tags: Original article Source Type: research
