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  • Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1
    Brain Dev. (IF 1.504) Pub Date : 2020-08-11
    Tibor Kalmár; Zoltán Maróti; Alíz Zimmermann; László Sztriha

    Background The ALDH18A1 gene is located at 10q24.1 and encodes delta-1-pyrroline-5-carboxylate synthetase (P5CS), a mitochondrial bifunctional enzyme that catalyzes the first two steps in de novo biosynthesis of proline, ornithine, citrulline, and arginine. ALDH18A1-related disorders have been classified into four groups, such as autosomal dominant and recessive hereditary spastic paraplegia (SPG9A

    更新日期:2020-08-11
  • Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency
    Brain Dev. (IF 1.504) Pub Date : 2020-08-11
    Hideaki Shiraishi; Kenji Yamada; Kiyoshi Egawa; Mika Ishige; Fumihiro Ochi; Asami Watanabe; Sanae Kawakami; Kazuyo Kuzume; Kenji Watanabe; Koji Sameshima; Kiyotaka Nakamagoe; Akira Tamaoka; Naoko Asahina; Saki Yokoshiki; Keiko Kobayashi; Takashi Miyakoshi; Koji Oba; Toshiyuki Isoe; Norihiro Sato

    Background Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a mitochondrial fatty acid oxidation disorder that causes episodic attacks, such as general fatigue, hypotonia, myalgia, and rhabdomyolysis accompanied by lack of energy. As yet, there are no preventative drugs for these VLCADD-associated metabolic attacks. Patients and methods We conducted an open-label, non-randomized, multi-center

    更新日期:2020-08-11
  • Eight years follow-up of a generalized epilepsy patient with eating-induced late-onset epileptic spasms and atypical absence with myoclonic jerks
    Brain Dev. (IF 1.504) Pub Date : 2020-08-10
    Xiaoli Wang; Beibei Chen; Lang Jin; Wenjuan Zhang; Yonghong Liu

    Purpose Eating epilepsy was previously known as a kind of focal reflex epilepsy. However, the development of eating-induced multiple generalized seizures and the associated EEG changes were rarely reported. Herein, we present a 13-year-old generalized epilepsy patient with eating-induced generalized seizures since the age of 5. Case presentation The 13-year-old male patient had suffered from late-onset

    更新日期:2020-08-10
  • Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy
    Brain Dev. (IF 1.504) Pub Date : 2020-08-07
    Luciana Midori Inuzuka; Lucia Inês Macedo-Souza; Bruno Della-Ripa; Fabiola Paoli Monteiro; Luiza Ramos; João Paulo Kitajima; Eliana Garzon; Fernando Kok

    Introduction KCNT2 was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. Case report We present an additional observation of a 16-year-old male patient with a novel de novo KCNT2 likely pathogenic variant and review the five previously reported cases of de novo variants in this gene. Discussion Whole exome sequencing identified the missense variant c.725C > A p

    更新日期:2020-08-08
  • Administration of nusinersen via paramedian approach for spinal muscular atrophy
    Brain Dev. (IF 1.504) Pub Date : 2020-08-06
    Hideyuki Iwayama; Norimitsu Wakao; Hirokazu Kurahashi; Norika Kubota; Ayako Hattori; Toshiyuki Kumagai; Akihisa Okumura

    Objective To assess the success rate, procedure time, and adverse events of intrathecal administration of nusinersen via the paramedian approach in adolescents and adults with spinal muscular atrophy (SMA) associated with scoliosis. Methods Seven patients with genetically confirmed SMA (age, 12–40 years) were included. Intrathecal administration of nusinersen was performed via paramedian approach using

    更新日期:2020-08-08
  • Executive dysfunction in medication-naïve children with ADHD: A multi-modal fNIRS and EEG study.
    Brain Dev. (IF 1.504) Pub Date : 2020-06-10
    Yoshimi Kaga,Riyo Ueda,Miho Tanaka,Yosuke Kita,Kota Suzuki,Yasuko Okumura,Yuka Egashira,Yuka Shirakawa,Shota Mitsuhashi,Yuzuki Kitamura,Eiji Nakagawa,Yushiro Yamashita,Masumi Inagaki

    Objective Children with attention deficit hyperactivity disorder (ADHD) exhibit deficits in executive function. Since there are no clear biomarkers for the disorder, this study aimed to investigate the neurophysiological biomarkers for deficits in executive function in children with ADHD using functional near-infrared spectroscopy (fNIRS) and electroencephalography. Methods Twenty patients diagnosed

    更新日期:2020-08-05
  • Single gene, two diseases, and multiple clinical presentations: Biotin–thiamine-responsive basal ganglia disease
    Brain Dev. (IF 1.504) Pub Date : 2020-06-26
    Betül Kılıç; Yasemin Topçu; Şiar Dursun; İlknur Erol; Merve Hilal Dolu; Haydar Ali Taşdemir; Kürşad Aydın

    Aim To present seven new genetically confirmed cases of biotin–thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics. Material and methods Genetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described.

    更新日期:2020-08-05
  • 13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement.
    Brain Dev. (IF 1.504) Pub Date : 2020-06-04
    Masaki Miura,Akihiko Ishiyama,Eiji Nakagawa,Masayuki Sasaki,Kenji Kurosawa,Ken Inoue,Yu-Ichi Goto

    Background Deletion of 13q13.3 is an extremely rare event. Case We report on a 25-month-old girl with neurodevelopmental disorder and intellectual disability. She had dysmorphic facies characterized by synophrys, long and narrow palpebral fissures; and a large, round face with small organs such as the eyes and mouth positioned near the center. She was hypotonic and had autism-like behaviors. Blood

    更新日期:2020-08-05
  • Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan.
    Brain Dev. (IF 1.504) Pub Date : 2020-06-03
    Kentaro Okamoto,Takahiro Motoki,Isao Saito,Risako Urate,Kaori Aibara,Toshihiro Jogamoto,Mitsumasa Fukuda,Hiroyuki Wakamoto,Satoshi Maniwa,Yoichi Kondo,Yoshihiro Toda,Aya Goji,Tatsuo Mori,Tomohiro Soga,Yukihiko Konishi,Shigehiro Nagai,Yoko Takami,Chiho Tokorodani,Ritsuo Nishiuchi,Daisuke Usui,Rina Ando,Satoshi Tada,Yuki Yamanishi,Masahiro Nagai,Reiko Arakawa,Kayoko Saito,Hisahide Nishio,Eiichi Ishii

    Background Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder associated with spinal motor neuron loss and characterized by generalized muscle weakness. Only a few reports exist on SMA epidemiology in Japan. Additionally, nusinersen recently became available as a treatment for this condition. We estimated the prevalence of each type of SMA on Shikoku, Japan’s fourth-largest major

    更新日期:2020-08-05
  • A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay
    Brain Dev. (IF 1.504) Pub Date : 2020-06-25
    Satoru Ikemoto; Shin-ichiro Hamano; Kenjiro Kikuchi; Reiko Koichihara; Yuko Hirata; Ryuki Matsuura; Takuya Hiraide; Mitsuko Nakashima; Ken Inoue; Kenji Kurosawa; Hirotomo Saitsu

    Introduction Hypomyelinating leukodystrophies (HLDs) are genetically heterogeneous syndromes, presenting abnormalities in myelin development in the central nervous system. Recently, a recurrent de novo mutation in TMEM106B was identified to be responsible for five cases of HLD. We report the first Japanese case of TMEM106B gene mutation. Case Study A 3-year-old patient presented with nystagmus and

    更新日期:2020-08-05
  • KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report.
    Brain Dev. (IF 1.504) Pub Date : 2020-06-03
    Chihiro Takase,Kentaro Shirai,Yu Matsumura,Tomohiro Watanabe,Akimitsu Watanabe,Ayaka Hirasawa-Inoue,Takeshi Mizuguchi,Naomichi Matsumoto,Kenji Sugai,Masaharu Hayashi

    Background Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the early-onset epileptic encephalopathies resistant to antiepileptic drugs, therefore carrying an extremely poor neurodevelopmental outcome. KCNT1, encoding for a sodium-activated potassium channel (KCa4.1 channel), has recently been reported as the major gene responsible for EIMFS. Since gain of function is the only type

    更新日期:2020-08-05
  • Effect of total callosotomy on KCNQ2-related intractable epilepsy.
    Brain Dev. (IF 1.504) Pub Date : 2020-06-09
    Ayako Yamamoto,Yoshiaki Saito,Yoshitaka Oyama,Yoshihiro Watanabe,Azusa Ikeda,Rumiko Takayama,Hiroko Ikeda,Saoko Takeshita,Ichiro Takumi,Toshiyuki Itai,Satoko Miyatake,Naomichi Matsumoto

    Aim To describe beneficial effects of callosotomy on KCNQ2-related intractable epilepsy. Case report Our patient was a 10-year-old girl who had developed epilepsy during the neonatal period, accompanied by a suppression-burst pattern on the electroencephalography (EEG). The patient showed profound psychomotor developmental delay since early infancy. Daily seizures of versive posturing and ocular deviation

    更新日期:2020-08-05
  • White matter abnormality in Jacobsen syndrome assessed by serial MRI.
    Brain Dev. (IF 1.504) Pub Date : 2020-06-05
    Shuhei Fujino,Hiroshi Yoshihashi,Ryojun Takeda,Satoshi Ihara,Sahoko Miyama

    Introduction Jacobsen syndrome (JS) is caused by a deletion at the terminus of the long arm of chromosome 11. There are few reports of JS associated with cerebral white matter abnormalities (WMA), and the etiology, pathophysiology, and time-dependent changes in WMA with JS still remain unclear. Case report The patient was a 2-month-old female with several morphological anomalies, including trigonocephaly

    更新日期:2020-08-05
  • Two cases of persistent falcine and occipital sinuses
    Brain Dev. (IF 1.504) Pub Date : 2020-08-03
    Takehiko Inui; Moriei Shibuya; Takuya Miyabayashi; Ryo Sato; Yukimune Okubo; Wakaba Endo; Noriko Togashi; Yoshihisa Shimanuki; Harushi Mori; Kazuhiro Haginoya

    Background The coexistence of falcine and occipital sinuses is rare and its natural course has not been reported. Case reports Two patients with persistent falcine and occipital sinuses are described. Both patients had straight sinuses. In one, both the transverse and sigmoid sinuses were hypoplastic and the patient had an acquired Chiari I malformation. The other patient had no other venous anomalies

    更新日期:2020-08-04
  • A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation
    Brain Dev. (IF 1.504) Pub Date : 2020-08-01
    Tuğçe Aksu Uzunhan; Nafiye Emel Çakar; Serhat Seyhan; Kürşad Aydin

    Background Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions syndrome I. This disorder is a severe autosomal recessive disease with onset in early infancy. It is characterized by disruption of the energy metabolism, resulting in weakness, neurological

    更新日期:2020-08-01
  • Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder
    Brain Dev. (IF 1.504) Pub Date : 2020-07-31
    Snehal Shah; Najm Khan; Rahul Lakshmanan; Barry Lewis; Lakshmi Nagarajan

    Biotinidase deficiency disorder is a rare inherited metabolic disorder with typical neurological manifestations of hypotonia, developmental delay, rashes, seizures, hearing and vision impairment. We present two cases with different and unusual clinical profiles, whose neuroimaging resembled Neuromyelitis Optica Spectrum Disorder. Case 1 was initially treated with immunomodulation with steroids and

    更新日期:2020-07-31
  • Diagnostic yield of capillary compared to venous glucose in the diagnosis of hypoglycorrhachia in children: A prospective, observational study
    Brain Dev. (IF 1.504) Pub Date : 2020-07-30
    Juan David Farfán-Albarracín; Cristina Lorena Ramírez-Sierra; Oscar Mauricio Espitia Segura; Sofy Helena Pérez; Hugo Andrés Téllez Prada; María Camila Rueda Rodríguez; Ingrid Lemus Espitia; Ana Maritza Bedoya

    Introduction The ratio of cerebrospinal fluid (CSF) glucose and blood glucose is of major relevance, conducting to the diagnosis of hypoglycorrhachia, which is a sign of neuroinfection, as well as a number of neurological diseases of genetic or neoplastic etiology. Glucose in capillary sample (glucometry) is a low cost, readily available technique, as compared to venous glucose. This study aims to

    更新日期:2020-07-31
  • Low threshold to Vestibular and Oral Sensory stimuli might affect quality of sleep among children with autism spectrum disorder
    Brain Dev. (IF 1.504) Pub Date : 2020-07-30
    Takuya Kosaka; Masao Kawatani; Genrei Ohta; Yoshifumi Mizuno; Shinichiro Takiguchi; Asami Kumano; Hisako Hayashi; Akio Fujine; Akemi Tsuda; Takashi X. Fujisawa; Akemi Tomoda; Yusei Ohshima

    Aims The current study aimed to validate the relationship between sensory characteristics and sleep dynamics among children with autism spectrum disorder (ASD) using an actigraph, which is an objective assessment device used for sleep monitoring. Methods A total of 40 children (age range, 3–6 years) participated in this study (n = 20, with ASD and n = 20, age-matched children with typical development

    更新日期:2020-07-31
  • Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome
    Brain Dev. (IF 1.504) Pub Date : 2020-07-30
    Jun Natsume; Naoko Ishihara; Yoshiteru Azuma; Tomohiko Nakata; Tomoya Takeuchi; Masaharu Tanaka; Yoko Sakaguchi; Yu Okai; Yuji Ito; Hiroyuki Yamamoto; Atsuko Ohno; Hiroyuki Kidokoro; Ayako Hattori; Shin Nabatame; Katsuhiko Kato

    Purpose To establish an objective method of [18F]-fluorodeoxyglucose positron emission tomography (FDG-PET) that can assist in the diagnosis of glucose transporter 1 deficiency syndrome (GLUT1-DS). Methods FDG-PET was performed in 8 patients with a mean age of 12.5 years (range, 2–22 years) with GLUT1-DS. Their PET findings were compared with those of 45 controls with a mean age of 11.2 years (range

    更新日期:2020-07-30
  • Efficacy of perampanel for epileptic seizures and daily behavior in a patient with Leigh syndrome: A case report
    Brain Dev. (IF 1.504) Pub Date : 2020-07-29
    Shuhei Kimura; Hideaki Shiraishi; Kiyoshi Egawa; Masaya Uchida; Michihiko Ueno

    Background Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug. Case presentation A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diagnosed with LS according to the results of cerebrospinal fluid and high signal intensity

    更新日期:2020-07-30
  • Chaperone therapy for molecular pathology in lysosomal diseases
    Brain Dev. (IF 1.504) Pub Date : 2020-07-29
    Yoshiyuki Suzuki

    In lysosomal diseases, enzyme deficiency is caused by misfolding of mutant enzyme protein with abnormal steric structure that is expressed by gene mutation. Chaperone therapy is a new molecular therapeutic approach primarily for lysosomal diseases. The misfolded mutant enzyme is digested rapidly or aggregated to induce endoplasmic reticulum stress. As a result, the catalytic activity is lost. The following

    更新日期:2020-07-29
  • Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy
    Brain Dev. (IF 1.504) Pub Date : 2020-07-25
    Ryoko Kuwayama; Yasuhiro Suzuki; Masanori Nishikawa; Tomokazu Kimizu; Ken Nakajima; Tae Ikeda; Yukiko Mogami; Keiko Yanagihara

    Background Recent advances in respiratory management have improved survival for patients with Fukuyama congenital muscular dystrophy (FCMD), characterized by congenital muscular dystrophy and brain malformation. Previous studies reported that more than half of patients exhibit seizures in childhood. However, little is known about epilepsy after childhood. Methods To elucidate the long-term clinical

    更新日期:2020-07-26
  • Neurochemistry of hyponatremic encephalopathy evaluated by MR spectroscopy
    Brain Dev. (IF 1.504) Pub Date : 2020-07-25
    Yumie Asaki; Yuka Murofushi; Kumi Yasukawa; Mayumi Hara; Jun-ichi Takanashi

    MR spectroscopy in a patient with hyponatremic encephalopathy due to the syndrome of inappropriate secretion of antidiuretic hormone revealed decreased N-acetyl-aspartate, creatine plus phosphocreatine, choline-containing compounds, and myo-inositol, with normal glutamate and increased glutamine, which normalized after Na normalization. The decreased concentrations of creatine plus phosphocreatine

    更新日期:2020-07-25
  • Analysis of factors related to low health-related quality of life in children with epilepsy using a self-assessed Japanese version of the KIDSCREEN-52
    Brain Dev. (IF 1.504) Pub Date : 2020-07-24
    Yasuko Furuichi; Takafumi Sakakibara; Satoko Nezu; Keigo Saeki; Kenji Obayashi; Norio Kurumatani; Toru Hoshida; Toshiaki Doi; Naoki Miki; Seiji Kinoshita; Midori Shima

    Background There is a paucity of studies on self-assessed generic health-related quality of life (HRQOL) in children with epilepsy. The purpose of this study was to investigate generic HRQOL and associated factors among Japanese children with epilepsy. Methods In this clinic-based study, 277 children (aged 8–18 years) with epilepsy and 429 children without any chronic illnesses were recruited. HRQOL

    更新日期:2020-07-25
  • Cannabidiol-enriched oil in children and adults with treatment-resistant epilepsy-does tolerance exist?
    Brain Dev. (IF 1.504) Pub Date : 2020-07-24
    Shimrit Uliel-Sibony; Moran Hausman-Kedem; Aviva Fattal-Valevski; Uri Kramer

    Aim To evaluate the long-term effectiveness of cannabidiol (CBD)-enriched oil for the treatment of refractory epilepsy and to assess the development of tolerance to its anti-seizure effect. Methods A prospective study of 92 consecutive patients (age 1–37 years, mean-11.8 years) with treatment resistant epilepsy who were treated with cannabis oil extract (CBD/tetrahydrocannabinol [THC] ratio of 20:1)

    更新日期:2020-07-24
  • The changes in the topological properties of brain structural network based on diffusion tensor imaging in pediatric epilepsy patients with vagus nerve stimulators: A graph theoretical analysis
    Brain Dev. (IF 1.504) Pub Date : 2020-07-24
    Jin Zhu; Cuiping Xu; Xi Zhang; Liang Qiao; Xueyuan Wang; Xiaohua Zhang; Xiaoming Yan; Duanyu Ni; Tao Yu; Guojun Zhang; Yongjie Li

    Purpose This study aimed to analyze the topological characteristics of brain structural network in pediatric epilepsy patients with vagus nerve stimulation (VNS) by applying graph theoretical approaches. Methods Nine patients with generalized seizures and eight normal controls (NC) were enrolled. Based on diffusion tensor imaging, graph theory analysis was used to characterize the topological properties

    更新日期:2020-07-24
  • Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome
    Brain Dev. (IF 1.504) Pub Date : 2020-07-24
    Ji Soo Park; Man Jin Kim; Soo Yeon Kim; Byung Chan Lim; Ki Joong Kim; Moon-Woo Seong; Jin Sook Lee; Jong-Hee Chae

    Background The ACO2 gene encodes mitochondrial aconitase, the enzyme involved in the second step of the tricarboxylic acid cycle, catalyzing the interconversion of citrate into isocitrate. To date, fewer than 20 families harboring ACO2 mutations have been identified since the first report of a neurodegenerative disorder such as infantile cerebellar retinal degeneration in 2012. Subsequently, various

    更新日期:2020-07-24
  • A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism
    Brain Dev. (IF 1.504) Pub Date : 2020-07-21
    Xiaoli Yi; Xinyu Yuan; Hua Xie; Xiaoli Chen; Yanli Zhu

    Background Agenesis of the corpus callosum (ACC) is a relatively common brain malformation in children with developmental disabilities, caused by mutations in many genes. These genetic causes are characterized by their extreme heterogeneity with more than 300 causative genes identified to date. Case report We describe two new cases from a three-generation family with ACC and a de novo mutation of the

    更新日期:2020-07-21
  • Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome
    Brain Dev. (IF 1.504) Pub Date : 2020-07-17
    Tomoko Saikusa; Machiko Kawaguchi; Tetsuji Tanioka (Tetsu T); Shin Nabatame (Shin N); Satoru Takahashi; Kotaro Yuge; Shin-ichiro Nagamitsu; Tomoyuki Takahashi; Yushiro Yamashita; Yasuyuki Kobayashi; Chisato Hirayama; Tatsuyuki Kakuma; Toyojiro Matsuishi; Masayuki Itoh

    Purpose To investigate walking ability in Japanese patients with Rett syndrome (RTT). Methods Walking ability was assessed in 100 female Japanese patients with RTT using univariate and multivariate analysis in all age groups, and in patients over 10 years of age. We analyzed walking ability and confounding factors including prenatal-perinatal histories, developmental milestones, somatic and head growth

    更新日期:2020-07-17
  • Movement disorders in children with congenital Zika virus syndrome
    Brain Dev. (IF 1.504) Pub Date : 2020-07-16
    Hélio van der Linden; Laura Silveira-Moriyama; Vanessa van der Linden; André Pessoa; Kette Valente; Jonathan Mink; Alex Paciorkowski

    Background Congenital Zika Virus Syndrome (CZVS) denotes the neurologic and developmental sequelae of congenital infection of the Zika virus. While prior studies have detailed the associated clinical phenotypes, new findings continue to be identified. Abnormal postures and movements have been previously described in children with CZVS, but not in detail. Objective To examine a cohort of infants with

    更新日期:2020-07-16
  • A nationwide survey of bilirubin encephalopathy in preterm infants in Japan
    Brain Dev. (IF 1.504) Pub Date : 2020-07-10
    Akihisa Okumura; Ichiro Morioka; Hiroshi Arai; Masahiro Hayakawa; Yoshihiro Maruo; Takashi Kusaka; Tetsuya Kunikata; Satoko Kumada

    Objectives To examine the clinical characteristics of bilirubin encephalopathy in preterm infants (pBE) in Japan. Methods We performed a two-step nationwide questionnaire survey. The initial survey determined the number of children with pBE. Using a structured questionnaire, the second survey clarified the clinical manifestations and characteristics of children with pBE, including the perinatal history

    更新日期:2020-07-10
  • Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy
    Brain Dev. (IF 1.504) Pub Date : 2020-07-09
    Noriko Togashi; Atsushi Fujita; Moriei Shibuya; Saki Uneoka; Takuya Miyabayashi; Ryo Sato; Yukimune Okubo; Wakaba Endo; Takehiko Inui; Kazutaka Jin; Naomichi Matsumoto; Kazuhiro Haginoya

    Background Generalized epilepsy and tremor phenotypes have been reported in some genetic disorders. Among them benign adult familial myoclonus epilepsy (BAFME) has been confirmed as a clearly defined clinical and genetic entity. On the other hand, non-progressive tremor and generalized epilepsy phenotypes have also been reported in patients with DHDDS variants. Case presentation. We report on a long

    更新日期:2020-07-10
  • Circulating markers of oxidative stress are associated with a muscle injury in patients with muscular dystrophy Duchenne
    Brain Dev. (IF 1.504) Pub Date : 2020-07-09
    Tomas Almeida-Becerril; Maricela Rodríguez-Cruz; Juan Raúl Sánchez-González; Marco Antonio Villaldama-Soriano; Salvador Atilano-Miguel; Judith Villa-Morales; Alan Cárdenas-Conejo; René Cárdenas-Vázquez

    Background A small number of studies have confirmed the presence of oxidative damage in patients with Duchenne muscular dystrophy (DMD). Nevertheless, it is unknown if there a relationship of circulating markers of oxidative stress with a muscle injury. Objective We evaluated if oxidative damage and anti-oxidant markers are associated with muscle damage in DMD. Methods This cross-sectional study included

    更新日期:2020-07-10
  • Personality, emotional and cognitive functions in young adults born preterm
    Brain Dev. (IF 1.504) Pub Date : 2020-07-09
    Serafina Perrone; Elisa Laschi; Simona Negro; Monica Tei; Daniela Urilli; Giuseppe Buonocore

    Background Survival of preterm very low birthweight infants resulted in high risk for developmental cognitive deficits, poor academic achievement, and behaviour disorders. While numerous studies evaluated the prevalence of neurodevelopmental disability in early childhood, poor literature is available for infants born very low birthweight in adulthood. Materials and methods Fifty-five young adults born

    更新日期:2020-07-09
  • Longitudinal correspondence of epilepsy and scalp EEG fast (40–200 Hz) oscillations in pediatric patients with tuberous sclerosis complex
    Brain Dev. (IF 1.504) Pub Date : 2020-07-04
    Hiroki Tsuchiya; Fumika Endoh; Tomoyuki Akiyama; Masao Matsuhashi; Katsuhiro Kobayashi

    Introduction Epilepsy associated with tuberous sclerosis complex (TSC) has very complex clinical characteristics. Scalp electroencephalogram (EEG) fast (40–200 Hz) oscillations (FOs) were recently suggested to indicate epilepsy severity. Epileptic FOs may undergo age-dependent longitudinal change in individual patients, however, and the typical pattern of such change is not yet fully clarified. We

    更新日期:2020-07-05
  • Learning difficulties in Japanese schoolchildren with focal epilepsy
    Brain Dev. (IF 1.504) Pub Date : 2020-07-03
    Mitsuaki Miyazaki; Tomomi Tanaka; Yuichi Adachi; Kazushi Miya

    Background Children with epilepsy often show some degree of cognitive impairment. In this study, we investigated their learning skills to clarify the characteristics of the difficulties related to learning in Japanese-speaking children with focal epilepsy. Methods The study included 13 boys and 17 girls of mean age 9.7 years (standard deviation 2.61; range 6–14 years) with focal epilepsy and a normal

    更新日期:2020-07-03
  • Risk factors of malnutrition in children with severe motor and intellectual disabilities
    Brain Dev. (IF 1.504) Pub Date : 2020-07-02
    Mari Hasegawa; Kiyotaka Tomiwa; Yukie Higashiyama; Chiharu Kawaguchi; Hajime Kin; Masaru Kubota; Midori Shima; Keiji Nogami

    Background Children with severe motor and intellectual disabilities (SMID) are at a high risk of malnutrition and often require tube feeding to maintain their nutritional status. However, determining their energy requirements is difficult since inadequate dietary intake, severe neurological impairment, respiratory assistance, and cognitive impairment are all factors that affect malnutrition in SMID

    更新日期:2020-07-03
  • Prevalence and clinical characteristics of children with medical complexity in Tottori Prefecture, Japan: A population-based longitudinal study
    Brain Dev. (IF 1.504) Pub Date : 2020-07-01
    Hiroyuki Yamada; Koyo Ohno; Madoka Shiota; Masami Togawa; Yasushi Utsunomiya; Shinjiro Akaboshi; Hirokazu Tsuchie; Takayoshi Okada; Masayosi Oguri; Shigeru Higami; Hisashi Noma; Yoshihiro Maegaki

    Objectives To investigate the prevalence and background of children with medical complexity (CMC) and its secular trend in Japan. Methods CMC were defined as patients under the age of 20 years requiring medical care and devices. The patients were enrolled using the national health insurance claims data of three hospitals and two rehabilitation centers in Tottori Prefecture. The study period was divided

    更新日期:2020-07-02
  • IVIG in childhood primary angiitis of the central nervous system: A case report
    Brain Dev. (IF 1.504) Pub Date : 2020-07-01
    Hiroya Nishida; Satoko Kumada; Takashi Komori; Keisuke Takai; Harushi Mori; Michiharu Morino; Hiromi Suzuki; Hideaki Mashimo; Kenji Inoue; Atsuko Arisaka; Mitsumasa Fukuda; Yasuhiro Nakata

    Aggressive immunosuppressive therapies have been proposed to treat primary angiitis of the central nervous system (PACNS). Here, we report the first successfully stabilized case of childhood, small-vessel PACNS with intravenous immunoglobulin (IVIG) therapy. A 12-year-old boy was admitted to our hospital complaining of recurrent headaches and upper-left homonymous quadrantanopia, since the age of 11 years

    更新日期:2020-07-02
  • A case of abdominal functional myoclonus analyzed by movement related cortical potentials
    Brain Dev. (IF 1.504) Pub Date : 2020-06-30
    Ryosuke Urabe; Masaya Kubota

    Background Diagnosis of functional (psychogenic) movement disorders is challenging, causing concern for many clinicians. Here, we describe a case in which MRCP (movement related cortical potentials) was useful for understanding pathophysiology. Case report The patient was a 16-year-old male with history of glycogenosis and Crohn’s disease. He also had a history of possible autism spectrum disorder

    更新日期:2020-06-30
  • Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients
    Brain Dev. (IF 1.504) Pub Date : 2020-06-27
    Prateek Kumar Panda; Indar Kumar Sharawat; Kriti Joshi; Lesa Dawman; Rishi Bolia

    Background In the last two decades, with the advent of whole-exome and whole-genome sequencing, supplemented with linkage analysis, more than 150 genes responsible for X-linked intellectual disability have been identified. Some genes like NEXMIF remain an enigmatic entity, as often the carrier females show wide phenotypic diversity ranging from completely asymptomatic to severe intellectual disability

    更新日期:2020-06-27
  • Sensory hypersensitivity in Tourette syndrome: A review
    Brain Dev. (IF 1.504) Pub Date : 2020-06-26
    David Isaacs; Heather Riordan

    Tourette syndrome (TS) is a neurodevelopmental disorder defined by tics, but most patients also experience bothersome sensory phenomena, in the form of premonitory urges and/or sensory hypersensitivity. Whereas premonitory urges are temporally paired with tics, sensory hypersensitivity is a constant, heightened awareness of external and/or internal stimuli. The intensity of sensory hypersensitivity

    更新日期:2020-06-26
  • Glucose transporter type 1 deficiency syndrome associated with autoantibodies to glutamate receptors
    Brain Dev. (IF 1.504) Pub Date : 2020-06-24
    Hiroki Hoshino; Kazuko Takayama; Atsushi Ishii; Yukitoshi Takahashi; Hideaki Kanemura

    Background The clinical spectrum of glucose transporter type 1 deficiency syndrome (GLUT1DS) has broadened, with increasing recognition of a milder phenotype. Antibodies targeting the subunits of glutamate receptors (GluRs), including GluN1, GluN2B, and GluD2, have been detected in various neurological disorders. Anti-GluD2 antibodies in particular may be associated with cerebellar symptoms. Case report

    更新日期:2020-06-24
  • Expanding the phenotype of COL4A1-related disorders-Four novel variants.
    Brain Dev. (IF 1.504) Pub Date : 2020-06-19
    Naoto Nishimura,Tatsuro Kumaki,Hiroaki Murakami,Yumi Enomoto,Yoshinori Tsurusaki,Megumi Tsuji,Yu Tsuyusaki,Tomohide Goto,Noriko Aida,Kenji Kurosawa

    Objective COL4A1 variant causes severe central nervous system (CNS) anomalies, including hydranencephaly. However, the pathogenic mechanism underlying the COL4A1 phenotype remains unclear. Here, we report de novo COL4A1 variants in four Japanese patients with typical or rare CNS involvement and exhibiting diverse phenotypes. Methods We identified and enrolled four patients with white matter abnormalities

    更新日期:2020-06-19
  • Lacosamide for children with paroxysmal kinesigenic dyskinesia.
    Brain Dev. (IF 1.504) Pub Date : 2020-05-16
    Gen Furukawa,Yutaka Negishi,Tomoya Takeuchi,Naoko Ishihara,Akihisa Okumura

    Objectives This study was performed to evaluate the efficacy and tolerability of lacosamide (LCM) for paroxysmal kinesigenic dyskinesia (PKD) in children. Methods We retrospectively reviewed the medical charts of pediatric PKD patients (aged <16 years) treated with LCM. Data regarding demographic characteristics, proline-rich transmembrane protein 2 (PRRT2) gene variant, clinical features of PKD, dose

    更新日期:2020-05-16
  • Neonatal neuron specific enolase, a sensitive biochemical marker of neuronal damage, is increased in preeclampsia: A retrospective cohort study.
    Brain Dev. (IF 1.504) Pub Date : 2020-05-13
    Jiaying Liao,Zuoman Zhang,Weimin Huang,Qitao Huang,Guangliang Bi

    Background Preeclampsia leads to chronic intrauterine hypoxia by interfering with placental blood supply. We aimed to investigate whether preeclampsia exposure has an influence on central nervous system of infants, as evaluated by analyzing neonatal serum neuron specific enolase (NSE). Methods This was a retrospective study including infants born in Nanfang hospital between Jan 2018 and Feb 2019 without

    更新日期:2020-05-13
  • Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.
    Brain Dev. (IF 1.504) Pub Date : 2020-05-10
    Jamil A Hashmi,Fatima Fadhli,Ahmed Almatrafi,Sibtain Afzal,Khushnooda Ramzan,Holger Thiele,Peter Nürnberg,Sulman Basit

    Background Cohen syndrome (CS) is a rare multi-system autosomal recessive disorder with a high prevalence in the Finnish population. Clinical features of Finnish-type CS are homogeneous, however, in non-Finnish populations, CS diagnosis is challenging due to broad phenotypic variability. Methods We studied a consanguineous family having three affected individuals with clinical features of severe intellectual

    更新日期:2020-05-10
  • Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.
    Brain Dev. (IF 1.504) Pub Date : 2020-05-07
    C Paketci,P Edem,S Hiz,E Sonmezler,D Soydemir,G Sarikaya Uzan,Y Oktay,E O'Heir,S Beltran,S Laurie,A Töpf,H Lochmuller,R Horvath,U Yis

    Background Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far. Case Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions

    更新日期:2020-05-07
  • Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis.
    Brain Dev. (IF 1.504) Pub Date : 2020-05-04
    Ramesh Konanki,Radha Rama Devi Akella,Nalinikanta Panigrahy,Dinesh Kumar Chirla,Smilu Mohanlal,Reena Lankala

    Background Hyperammonemia and hyperlactatemia in neonates and young children with non-specific biochemical markers poses a diagnostic challenge. An accurate diagnosis is essential for effective management. Case reports We present three infants from unrelated families, one with infantile and two with neonatal hyperammonemic encephalopathy, hypoglycaemia, and hyperlactatemia. The underlying cause was

    更新日期:2020-05-04
  • Efficacy and safety of intravenous thiamylal in pediatric procedural sedation for magnetic resonance imaging.
    Brain Dev. (IF 1.504) Pub Date : 2020-04-28
    Shinji Irie,Katsuki Hirai,Kyoko Kano,Shuichi Yanabe,Masahiro Migita

    Objective To evaluate the efficacy and safety of intravenous (i.v.) thiamylal in pediatric magnetic resonance imaging (MRI) sedation. Methods Infants and children from 1 month up to 8 years of age who underwent MRI in our hospital between April 2017 and March 2019 were included in this prospective observational study. Initial dose of 2 mg/kg thiamylal was given intravenously; however, additional doses

    更新日期:2020-04-28
  • REM-sleep related hypermotor seizures: Video documentation and ictal source imaging.
    Brain Dev. (IF 1.504) Pub Date : 2020-04-25
    Anca Adriana Arbune,Marina Nikanorova,Daniella Terney,Sándor Beniczky

    Introduction Rapid eye movement (REM) sleep has an inhibitory effect on epileptiform EEG discharges, and seizures occur extremely rarely in REM sleep. Case study We present the case and video recordings of a 10-year-old boy, with sleep-related hypermotor seizures starting from REM sleep, identified from videoEEG recordings. The semiology comprised intense fear, tachycardia, tachypnea, followed by hypermotor

    更新日期:2020-04-25
  • Brainstem auditory pathway function at four months of corrected postnatal age in preterm infants born below 30 week gestation.
    Brain Dev. (IF 1.504) Pub Date : 2020-04-23
    Ze Dong Jiang,Cui Wang,Li Li Ping

    Objective Functional status of the brainstem auditory pathway was examined at four months of corrected postnatal age in infants born below 30 week gestation to assess the effect of very or extremely preterm birth on postnatal development of the pathway. Methods Thirty-four preterm infants born at 24–29 week gestation (GA24-29w) were studied at four months of corrected postnatal age. Normal controls

    更新日期:2020-04-23
  • Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan.
    Brain Dev. (IF 1.504) Pub Date : 2020-04-23
    Yasuo Sunaga,Kazuhiro Muramatsu,Kenjirou Kosaki,Kenji Sugai,Takahisa Mizuno,Miyuki Kouno,Masahiko Tashiro

    Background A report presenting five heterozygous de novo variants in VAMP2 in unrelated individuals with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features was first published in April 4, 2019. Case report We report the case of a male child with VAMP2 variant who was delivered at 38 weeks and 4 days without neonatal asphyxia. At 4 months of

    更新日期:2020-04-23
  • Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome.
    Brain Dev. (IF 1.504) Pub Date : 2020-04-23
    Mari Wold Henriksen,Hilde Breck,Yngve Sejersted,Trond Diseth,Stephen von Tetzchner,Benedicte Paus,Ola H Skjeldal

    Background and purpose Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The diagnostic criteria of RTT are clinical; mutations in MECP2 are neither diagnostic nor necessary, and a mutation in another gene does not exclude RTT. We attempted to correlate genotype and phenotype to see if there are significant clinical associations. Methods All available females

    更新日期:2020-04-23
  • Effectiveness of low-dose riboflavin as a prophylactic agent in pediatric migraine.
    Brain Dev. (IF 1.504) Pub Date : 2020-04-23
    Gaku Yamanaka,Shinji Suzuki,Mika Takeshita,Soken Go,Natsumi Morishita,Tomoko Takamatsu,Atsuro Daida,Shinichiro Morichi,Yu Ishida,Shingo Oana,Shonosuke Nara,Masaru Shimura,Shigeo Nishimata,Hisashi Kawashima

    Background Riboflavin may prevent migraine episodes; however, there is limited evidence of its effectiveness in pediatric populations. This study investigated the effectiveness of riboflavin and clinical predictors of response in children with migraines. Methods We retrospectively reviewed data from 68 Japanese children with migraines, of whom 52 also exhibited another type of headache. Patients received

    更新日期:2020-04-23
  • Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014-2017.
    Brain Dev. (IF 1.504) Pub Date : 2020-04-22
    Mariko Kasai,Akiko Shibata,Ai Hoshino,Yoshihiro Maegaki,Hideo Yamanouchi,Jun-Ichi Takanashi,Takanori Yamagata,Hiroshi Sakuma,Akihisa Okumura,Hiroaki Nagase,Atsushi Ishii,Tomohide Goto,Akira Oka,Masashi Mizuguchi

    Background We previously reported the nationwide, epidemiological data of acute encephalopathy in Japan during 2007–2010. Here we conducted the second national survey of acute encephalopathy during 2014–2017, and compared the results between the two studies to elucidate the trends in the seven years’ interval as well as the influence of changes in pediatric viral infections and guidelines for acute

    更新日期:2020-04-22
  • The association between tic medication therapy and psychiatric comorbidities among patients with Tourette syndrome: A national population-based study in Taiwan
    Brain Dev. (IF 1.504) Pub Date : 2020-02-03
    Chia-Wen Chen; Chang-Wei Hsueh; Chi-Hsiang Chung; Huei-Shyong Wang; Hsiu-Ju Chang; Wu-Chien Chien

    Background Tourette syndrome (TS) is often comorbid with attention deficit hyperactivity disorder, obsessive–compulsive disorder, and depression. Medications are the main treatment for TS. Relationships between TS medication therapy and psychiatric comorbidities remain unclear. This study explored the impacts of TS medication on the risk of psychiatric comorbidities using a nationally representative

    更新日期:2020-04-14
  • A short form of gross motor function measure for Fukuyama congenital muscular dystrophy
    Brain Dev. (IF 1.504) Pub Date : 2020-03-04
    Takatoshi Sato; Michiru Adachi; Aya Matsuo; Masaya Zushi; Keisuke Goto; Megumi Hirose; Kumiko Ishiguro; Minobu Shichiji; Terumi Murakami; Tetsuo Ikai; Makiko Osawa; Izumi Kondo; Satoru Nagata; Keiko Ishigaki

    Objectives The objective of this study was to confirm the validity of a short form of gross motor function measure for Fukuyama congenital muscular dystrophy (GMFM for FCMD). Methods This study is a case series and was conducted at the Tokyo Women’s Medical University. Fifteen patients with FCMD were assessed using both the GMFM for FCMD with 68 items, which was created as a motor function measure

    更新日期:2020-04-14
  • Perampanel for nonepileptic myoclonus in Angelman syndrome
    Brain Dev. (IF 1.504) Pub Date : 2020-03-10
    Osamu Kawano; Kiyoshi Egawa; Hideaki Shiraishi

    Background Angelman syndrome (AS) is a neurodegenerative disorder caused by functional loss of the maternal ubiquitin-protein ligase 3A gene. Nonepileptic myoclonus, also described as tremulous movement, often occurs during puberty and increases in adulthood. The involuntary movement in AS has not been defined patho-physiologically and the drugs used such as levetiracetam and piracetam are not always

    更新日期:2020-04-14
  • Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children
    Brain Dev. (IF 1.504) Pub Date : 2020-03-12
    Hsiu-Fen Lee; Ching-Shiang Chi; Chi-Ren Tsai

    Background The aim of this study was to describe the electroclinical variability of four Taiwanese patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 gene mutations. Methods Demographic data, case histories, clinical seizure patterns, EEG features, neuroimaging findings, ALDH7A1 gene mutations, treatments, and neurodevelopmental outcomes of the four patients were collected and analyzed

    更新日期:2020-04-14
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