研究者詳細 - 柴田　敬

論文 - 柴田　敬

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難治性てんかんで発症したinsular pilocytic astrocytomaの一例

佐々木達也, 細本翔, 岡崎三保子, 水野むつみ, 柴田敬, 秋山麻里, 亀田雅博, 安原隆雄, 小林勝弘, 伊達勲

てんかん研究 36 ( 1 ) 88 - 89 2018年6月

Ethosuximide-induced Stevens-Johnson syndrome: beneficial effect of early intervention with high-dose corticosteroid therapy 査読国際誌

Tachibana K, Hamada T, Tsuchiya H, Shibata T, Fujii K, Kobayashi K, Iwatsuki K

The Journal of Dermatology 45 ( 5 ) 592 - 595 2018年5月

Ethosuximide-induced Stevens-Johnson syndrome: Beneficial effect of early intervention with high-dose corticosteroid therapy 査読国際誌

Kota Tachibana, Toshihisa Hamada, Hiroki Tsuchiya, Takashi Shibata, Kazuyasu Fujii, Katsuhiro Kobayashi, Keiji Iwatsuki

The Journal of Dermatology 45 ( 5 ) 592 - 595 2018年5月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Wiley

We report two rare cases of childhood epilepsy patients who developed ethosuximide-induced Stevens-Johnson syndrome (SJS). Unlike typical SJS, the initial eruption of both patients presented well-demarcated, infiltrating firm papules mainly on the cheeks and the extensor aspects of the arms (case 1), and multiple vesicles on the soles and oral aphthosis (case 2), which closely mimicked viral exanthema. We diagnosed both patients with ethosuximide-induced SJS, based on the dosing period and the positive results of drug-induced lymphocyte stimulation test. Systemic corticosteroids are usually selected as a standard therapy for SJS, despite controversial results regarding their effectiveness. In case 1, an i.v. pulse therapy of methylprednisolone (30 mg/kg, 3 days consecutively) was initiated on day 7 from the onset of illness, and an i.v. immunoglobulin (400 mg/kg, 5 days consecutively) was added the following day. In case 2, an i.v. prednisone treatment (1 mg/kg, for 1 week) was initiated on day 4 from the onset. Eventually, the early therapeutic interventions resulted in good outcomes in both patients.

DOI： 10.1111/1346-8138.14253

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Detection of fast (40–150 Hz) oscillations from the ictal scalp EEG data of myoclonic seizures in pediatric patients 査読国際誌

Katsuhiro Kobayashi, Yuji Ohuchi, Takashi Shibata, Yoshiyuki Hanaoka, Mari Akiyama, Makio Oka, Fumika Endoh, Tomoyuki Akiyama

Brain and Development 40 ( 5 ) 397 - 405 2018年5月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Elsevier BV

OBJECTIVE: We explored fast (40-150 Hz) oscillations (FOs) from the ictal scalp electroencephalogram (EEG) data of myoclonic seizures in pediatric patients to obtain insight into the pathophysiological mechanisms involved in the generation of myoclonic seizures. SUBJECTS AND METHODS: The participants were 21 children (11 boys, 10 girls; age ranging from 5 months to 17 years 2 months) with myoclonic seizures associated with generalized (poly)spike-wave bursts in the ictal EEG data. The patients had heterogeneous etiologies and epilepsy diagnoses. In the ictal data, we detected FOs that clearly showed oscillatory morphology in filtered EEG traces and an outstanding spectral blob in time-frequency analysis. RESULTS: We identified FOs in 61 (88.4%) of all 69 myoclonic seizures. Every patient had at least one myoclonic seizure-associated FO. The observed FOs were embedded in the spike component of (poly)spike-wave discharges, and they had a focal distribution with frontal predominance. They ranged in frequency from 41.0 to 123.0 Hz and involved both the gamma and ripple bands, and their spectral peak frequencies were higher in the group of patients with a genetic background free of apparent fundamental brain pathology than in the group of other patients (p = 0.019). CONCLUSION: FOs were found to represent at least part of the cortical pathophysiological process in the generation of myoclonic seizures that should involve the thalamocortical network system.

DOI： 10.1016/j.braindev.2018.01.004

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Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders 査読

Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Nobuhiko Okamoto, Hirokazu Kurahashi, Nina Ekhilevitch, Masaaki Shiina, Gen Nishimura, Takashi Shibata, Muneaki Matsuo, Tae Ikeda, Kazuhiro Ogata, Naomi Tsuchida, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kenichiro Hata, Tadashi Kaname, Yoichi Matsubara, Hirotomo Saitsu, Naomichi Matsumoto

Human Molecular Genetics 27 ( 8 ) 1421 - 1433 2018年4月

Epileptic high-frequency oscillations in scalp electroencephalography

Takashi Shibata, Katsuhiro Kobayashi

Acta Medica Okayama 72 ( 4 ) 325 - 329 2018年

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Okayama University

Electroencephalography (EEG) examines the functional state of the brain. High-frequency oscillations (HFOs) in the ripple (80-200/250 Hz) and fast ripple (200/250-500/600 Hz) bands have recently been attracting attention, and their recording has been enabled by advancements in digital EEG techniques. The detection of HFOs was previously limited to intracranial EEG, but fast oscillations (FOs) in the gamma (40-80 Hz) and ripple bands can now be detected over the scalp. HFOs and FOs have been shown to be related to epileptogenicity in intracranial EEG and scalp EEG, respectively. A large number of FOs are found in the scalp EEGs of pediatric patients with various epileptic encephalopathies, particularly West syndrome. FOs are suggested to be a biomarker of the epileptogenic cortical region in epilepsy surgery. FOs are detectable even in patients with idiopathic focal epilepsies, including benign epilepsy with centrotemporal spikes and Panayiotopoulos syndrome, who are not generally candidates for operation. The detection of HFOs and FOs may provide clues to the pathophysiology of epilepsy and the relationship between HFOs and cognitive dysfunction.

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SCN8A遺伝子異常を認めた早期発症てんかん性脳症の1例

柴田敬, 岡牧郎, 小林勝弘, 高見勇一

脳と発達 49 ( 6 ) 429 - 429 2017年11月

Another Case of Glucose Transporter 1 Deficiency Syndrome with Periventricular Calcification, Cataracts, Hemolysis, and Pseudohyperkalemia 査読

Katsuhiro Kobayashi, Harumi Yoshinaga, Hiroaki Ono, Michiko Shinpo, Kuriko Kagitani-Shimono, Takashi Shibata

Neuropediatrics 48 ( 05 ) 390 - 393 2017年10月

担当区分：筆頭著者記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Georg Thieme Verlag KG

<title>Abstract</title>Glucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) is a disorder resulting from shortage of energy in the brain caused by reduced GLUT1 activity. Its common clinical symptoms include seizures, microcephaly, intellectual disability, abnormal ocular movements, ataxia, and dystonia. We report a case of GLUT1DS with unusual symptoms, including periventricular calcification. The patient is a Japanese girl, whose seizures had always evolved into status epilepticus since she was 4 months old. She also had cataracts and horizontal nystagmus. Neuroimaging studies showed periventricular calcification and brain atrophy. Laboratory data revealed pseudohyperkalemia, reticulocyte increase, and hypoglycorrhachia. A mutation of c1306_1308delATC (p.Ile436del) was identified in the SLC2A1 gene, and she was thus diagnosed with GLUT1DS. A case with the identical SLC2A1 gene mutation and similar clinical findings was previously reported by Bawazir et al (2012). The leak of monovalent cations through the red cell membrane causes hemolysis in such patients, and a similar phenomenon may occur at the blood–brain barrier and the lens epithelium. After commencing ketogenic diet therapy, the electroencephalogram (EEG) abnormalities improved markedly and the patient's development advanced. Clinicians should be aware of atypical GLUT1DS.

DOI： 10.1055/s-0037-1603520

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Pyridoxal 5′-phosphate, pyridoxal, and 4-pyridoxic acid in the paired serum and cerebrospinal fluid of children 査読国際誌

Tomoyuki Akiyama, Yumiko Hayashi, Yoshiyuki Hanaoka, Takashi Shibata, Mari Akiyama, Hiroki Tsuchiya, Tokito Yamaguchi, Katsuhiro Kobayashi

Clinica Chimica Acta 472 118 - 122 2017年9月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Elsevier BV

BACKGROUND: We quantified pyridoxal 5'-phosphate (PLP), pyridoxal (PL), and 4-pyridoxic acid (PA) in paired serum and cerebrospinal fluid (CSF) samples from children and investigated the effect of age on the concentrations and CSF-to-serum ratios of these vitamers. METHODS: Serum and CSF samples prospectively collected from 49 pediatric patients were analyzed. PLP, PL, and PA were measured using high-performance liquid chromatography with fluorescence detection, using pre-column derivatization by semicarbazide. Effects of age on these vitamers, the PLP-to-PL ratio, CSF-to-serum PLP ratio, and CSF-to-serum PL ratio were evaluated using correlation analysis. RESULTS: The PLP, PL, and PA concentrations in the serum and CSF were higher at younger ages, except for CSF PA concentrations that were mostly below the limit of detection (<1.2nmol/l). The PLP-to-PL ratios in the serum and CSF correlated positively with age. The CSF-to-serum PLP ratio and CSF-to-serum PL ratio were independent of age. CONCLUSIONS: Age-related changes in PLP, PL, and PA in serum and in CSF from pediatric patients and CSF-to-serum ratios of PLP and PL demonstrated in this study will provide valuable information for evaluating PLP supply to the central nervous system from the peripheral blood.

DOI： 10.1016/j.cca.2017.07.032

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Complex observation of scalp fast (40-150 Hz) oscillations in West syndrome and related disorders with structural brain pathology 査読

Katsuhiro Kobayashi, Fumika Endoh, Takashi Agari, Tomoyuki Akiyama, Mari Akiyama, Yumiko Hayashi, Takashi Shibata, Yoshiyuki Hanaoka, Makio Oka, Harumi Yoshinaga, Isao Date

Epilepsia Open 2 ( 2 ) 260 - 266 2017年6月

Measurement of pyridoxal 5′-phosphate, pyridoxal, and 4-pyridoxic acid in the cerebrospinal fluid of children 査読

Tomoyuki Akiyama, Mari Akiyama, Yumiko Hayashi, Takashi Shibata, Yoshiyuki Hanaoka, Soichiro Toda, Katsumi Imai, Shin-ichiro Hamano, Tohru Okanishi, Harumi Yoshinaga, Katsuhiro Kobayashi

Clinica Chimica Acta 466 1 - 5 2017年3月

Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children 査読国際誌

Tomoyuki Akiyama, Yumiko Hayashi, Yoshiyuki Hanaoka, Takashi Shibata, Mari Akiyama, Kazuyuki Nakamura, Yu Tsuyusaki, Masaya Kubota, Harumi Yoshinaga, Katsuhiro Kobayashi

Clinica Chimica Acta 465 5 - 10 2017年2月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Elsevier BV

BACKGROUND: We describe a new method for simultaneous measurement of monoamine metabolites (3-O-methyldopa [3-OMD], 3-methoxy-4-hydroxyphenylethyleneglycol [MHPG], 5-hydroxyindoleacetic acid [5-HIAA], and homovanillic acid [HVA]) and 5-methyltetrahydrofolate (5-MTHF) and its use on cerebrospinal fluid (CSF) samples from pediatric patients. METHODS: Monoamine metabolites and 5-MTHF were measured by high-performance liquid chromatography with fluorescence detection. CSF samples were prospectively collected from children according to a standardized collection protocol in which the first 1-ml fraction was used for analysis. RESULTS: Monoamine metabolites and 5-MTHF were separated within 10min. They showed linearity from the limit of detection to 1024nmol/l. The limit of quantification of each metabolite was sufficiently low for the CSF sample assay. In 42 CSF samples after excluding cases with possibly altered neurotransmitter profiles, the concentrations of 3-OMD, MHPG, 5-HIAA, HVA, and 5-MTHF showed significant age dependence and their ranges were comparable with the reference values in the literature. The metabolite profiles of aromatic l-amino acid decarboxylase deficiency, Segawa disease, and folate receptor α defect by this method were compatible with those in the literature. CONCLUSIONS: This method is a simple means of measuring CSF monoamine metabolites and 5-MTHF, and is especially useful for laboratories not equipped with electrochemical detectors.

DOI： 10.1016/j.cca.2016.12.005

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A Japanese case of β-ureidopropionase deficiency with dysmorphic features 査読国際誌

Tomoyuki Akiyama, Takashi Shibata, Harumi Yoshinaga, Tomiko Kuhara, Yoko Nakajima, Takema Kato, Yasuhiro Maeda, Morimasa Ohse, Makio Oka, Misao Kageyama, Katsuhiro Kobayashi

Brain and Development 39 ( 1 ) 58 - 61 2017年1月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Elsevier BV

β-Ureidopropionase deficiency is a rare autosomal recessive disease affecting the last step of pyrimidine degradation, and it is caused by a mutation in the UPB1 gene. Approximately 30 cases have been reported to date, with a phenotypical variability ranging from asymptomatic to severe neurological illness. Non-neurological symptoms have been rarely reported. We describe a case of this disease with developmental delay and dysmorphic features. Gas chromatography-mass spectrometry-based urine metabolomics demonstrated significant (⩾+4.5 standard deviation after logarithmic transformation) elevations of β-ureidopropionic acid and β-ureidoisobutyric acid, strongly suggesting a diagnosis of β-ureidopropionase deficiency. Subsequent quantitative analysis of pyrimidines by liquid chromatography-tandem mass spectrometry supported this finding. Genetic testing of the UPB1 gene confirmed compound heterozygosity of a novel mutation (c.976C>T) and a previously-reported mutation (c.977G>A) that is common in East Asians. β-Ureidopropionase deficiency is probably underdiagnosed, considering a wide phenotypical variability, non-specific neurological presentations, and an estimated prevalence of 1/5000-6000. Urine metabolomics should be considered for patients with unexplained neurological symptoms.

DOI： 10.1016/j.braindev.2016.08.001

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Significance of High-frequency Electrical Brain Activity 査読

Katsuhiro Kobayashi, Tomoyuki Akiyama, Takashi Agari, Tatsuya Sasaki, Takashi Shibata, Yoshiyuki Hanaoka, Mari Akiyama, Fumika Endoh, Makio Oka, Isao Date

ACTA MEDICA OKAYAMA 71 ( 3 ) 191 - 200 2017年

記述言語：英語出版者・発行元：OKAYAMA UNIV MED SCHOOL

Electroencephalogram (EEG) data include broadband electrical brain activity ranging from infra-slow bands (<0.1 Hz) to traditional frequency bands (e.g., the approx. 10 Hz alpha rhythm) to high-frequency bands of up to 500 Hz. High-frequency oscillations (HFOs) including ripple and fast ripple oscillations (80-200 Hz and >200/250 Hz, respectively) are particularly of note due to their very close relationship to epileptogenicity, with the possibility that they could function as a surrogate biomarker of epileptogenicity. In contrast, physiological high-frequency activity plays an important role in higher brain functions, and the differentiation between pathological/epileptic and physiological HFOs is a critical issue, especially in epilepsy surgery. HFOs were initially recorded with intracranial electrodes in patients with intractable epilepsy as part of a long-term invasive seizure monitoring study. However, fast oscillations (FOs) in the ripple and gamma bands (40-80 Hz) are now noninvasively detected by scalp EEG and magnetoencephalography, and thus the scope of studies on HFOs/FOs is rapidly expanding.

DOI： 10.18926/AMO/55201

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A study on spike focus dependence of high-frequency activity in idiopathic focal epilepsy in childhood 査読

Takashi Shibata, Harumi Yoshinaga, Tomoyuki Akiyama, Katsuhiro Kobayashi

Epilepsia Open 1 ( 3-4 ) 121 - 129 2016年12月

PRRT2遺伝子変異を認めたepisodic ataxiaの女児

柴田敬, 岡牧郎, 小林勝弘, 大内田守, 大守伊織

脳と発達 48 ( 6 ) 446 - 446 2016年11月

SSADH deficiency possibly associated with enzyme activity-reducing SNPs 査読国際誌

Tomoyuki Akiyama, Hitoshi Osaka, Hiroko Shimbo, Tomiko Kuhara, Takashi Shibata, Katsuhiro Kobayashi, Kenji Kurosawa, Harumi Yoshinaga

Brain and Development 38 ( 9 ) 871 - 874 2016年10月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Elsevier BV

BACKGROUND: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder that affects the degradation of gamma-aminobutyric acid and leads to the accumulation of gamma-hydroxybutyric acid (GHB) in body fluids. Diagnosis of SSADH deficiency is challenging, since the neurological symptoms are non-specific. CASE: The patient is a nine-year-old Japanese boy who presented with developmental delay, autism, epilepsy, and episodic gait disturbance. Brain magnetic resonance imaging showed hyperintense lesions in the bilateral thalami, globus pallidi, substantia nigra, and dentate nuclei. Urine metabolome analysis revealed elevated GHB, which led to a biochemical diagnosis of SSADH deficiency. Genetic analysis of the ALDH5A1 gene revealed a novel missense mutation c.1586G>A inherited from his father. It also demonstrated three single nucleotide polymorphisms (SNPs) (c.106G>C, c.538C>T, and c.545C>T), all of which were inherited from his mother and are known to reduce SSADH enzyme activity. There were no duplications or deletions in other exons in the patient or his parents. No variants in the upstream, intronic, or downstream regions of the ALDH5A1 gene were found in the patient. Enzymatic assay revealed a marked reduction of SSADH enzyme activity (≈2% of the lower limit of the normal range). CONCLUSION: Although other mechanisms cannot be fully excluded, the clinical manifestation of SSADH deficiency in this patient may be attributed to the combined effect of the mutation and the three enzyme activity-reducing SNPs. Urine metabolome analysis effectively detected his elevated GHB and is thus considered to be a good screening method for this underdiagnosed and potentially manageable metabolic disorder.

DOI： 10.1016/j.braindev.2016.03.008

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Idiopathic focal epilepsies: the "lost tribe" 査読

Deb K. Pal, Colin Ferrie, Laura Addis, Tomoyuki Akiyama, Giuseppe Capovilla, Roberto Caraballo, Anne de Saint-Martin, Natalio Fejerman, Renzo Guerrini, Khalid Hamandi, Ingo Helbig, Andreas A. Ioannides, Katsuhiro Kobayashi, Dennis Lal, Gaetan Lesca, Hiltrud Muhle, Bernd A. Neubauer, Tiziana Pisano, Gabrielle Rudolf, Caroline Seegmuller, Takashi Shibata, Anna Smith, Pasquale Striano, Lisa J. Strug, Pierre Szepetowski, Thalia Valeta, Harumi Yoshinaga, Michalis Koutroumanidis

EPILEPTIC DISORDERS 18 ( 3 ) 252 - 288 2016年9月

記述言語：英語出版者・発行元：JOHN LIBBEY EUROTEXT LTD

The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE in its 2010 revision (Berg et al., 2010), nor are its members and boundaries precisely delineated. The IFEs are amongst the most commonly encountered epilepsy syndromes affecting children. They are fascinating disorders that hold many "treats" for both clinicians and researchers. For example, the IFEs pose many of the most interesting questions central to epileptology: how are functional brain networks involved in the manifestation of epilepsy? What are the shared mechanisms of comorbidity between epilepsy and neurodevelopmental disorders? How do focal EEG discharges impact cognitive functioning? What explains the age-related expression of these syndromes? Why are EEG discharges and seizures so tightly locked to slow-wave sleep? In the last few decades, the clinical symptomatology and the respective courses of many IFEs have been described, although they are still not widely appreciated beyond the specialist community. Most neurologists would recognise the core syndromes of IFE to comprise: benign epilepsy of childhood with centro-temporal spikes or Rolandic epilepsy (BECTS/RE); Panayiotopoulos syndrome; and the idiopathic occipital epilepsies (Gastaut and photosensitive types). The Landau-Kleffner syndrome and the related (idiopathic) epilepsy with continuous spikes and waves in sleep (CSWS or ESES) are also often included, both as a consequence of the shared morphology of the interictal discharges and their potential evolution from core syndromes, for example, CSWS from BECTS. Atypical benign focal epilepsy of childhood also has shared electro-clinical features-warranting inclusion. In addition, a number of less well-defined syndromes of IFE have been proposed, including benign childhood seizures with affective symptoms, benign childhood epilepsy with parietal spikes, benign childhood seizures with frontal or midline spikes, and benign focal seizures of adolescence.
The term "benign" is often used in connection with the IFEs and is increasingly being challenged. Certainly most of these disorders are not associated with the devastating cognitive and behavioural problems seen with early childhood epileptic encephalopathies, such as West or Dravet syndromes. However, it is clear that specific, and sometimes persistent, neuropsychological deficits in attention, language and literacy accompany many of the IFEs that, when multiplied by the large numbers affected, make up a significant public health problem. Understanding the nature, distribution, evolution, risk and management of these is an important area of current research.A corollary to such questions regarding comorbidities is the role of focal interictal spikes and their enduring impact on cognitive functioning. What explains the paradox that epilepsies characterised by abundant interictal epileptiform abnormalities are often associated with very few clinical seizures? This is an exciting area in both clinical and experimental arenas and will eventually have important implications for clinical management of the whole child, taking into account not just seizures, but also adaptive functioning and quality of life. For several decades, we have accepted an evidence-free approach to using or not using antiepileptic drugs in IFEs. There is huge international variation and only a handful of studies examining neurocognitive outcomes. Clearly, this is a situation ready for an overhaul in practice.
Fundamental to understanding treatment is knowledge of aetiology. In recent years, there have been several significant discoveries in IFEs from studies of copy number variation, exome sequencing, and linkage that prompt reconsideration of the "unknown cause" classification and strongly suggest a genetic aetiology. The IFE are strongly age-related, both with regards to age of seizure onset and remission. Does this time window solely relate to a similar age-related gene expression, or are there epigenetic factors involved that might also explain low observed twin concordance? The genetic (and epigenetic) models for different IFEs, their comorbidities, and their similarities to other neurodevelopmental disorders deserve investigation in the coming years. In so doing, we will probably learn much about normal brain functioning. This is because these disorders, perhaps more than any other human brain disease, are disorders of functional brain systems (even though these functional networks may not yet be fully defined). In June 2012, an international group of clinical and basic science researchers met in London under the auspices of the Waterloo Foundation to discuss and debate these issues in relation to IFEs. This Waterloo Foundation Symposium on the Idiopathic Focal Epilepsies: Phenotype to Genotype witnessed presentations that explored the clinical phenomenology, phenotypes and endophenotypes, and genetic approaches to investigation of these disorders. In parallel, the impact of these epilepsies on children and their families was reviewed. The papers in this supplement are based upon these presentations. They represent an updated state-of-the-art thinking on the topics explored.
The symposium led to the formation of internationalworking groups under the umbrella of "Luke's Idiopathic Focal Epilepsy Project" to investigate various aspects of the idiopathic focal epilepsies including: semiology and classification, genetics, cognition, sleep, high-frequency oscillations, and parental resources (see www.childhood-epilepsy.org). The next sponsored international workshop, in June 2014, was on randomised controlled trials in IFEs and overnight learning outcome measures.

DOI： 10.1684/epd.2016.0839

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複雑脳動脈奇形により乳児期から脳梗塞を繰り返した女児例

林裕美子, 花岡義行, 柴田敬, 井上拓志, 岡牧郎, 吉永治美, 小林勝弘, 栄徳隆裕, 馬場健児

日本小児科学会雑誌 120 ( 2 ) 229 - 229 2016年2月

Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy 査読国際誌

Toshiyuki Yamamoto, Keiko Shimojima, Takashi Shibata, Mari Akiyama, Makio Oka, Tomoyuki Akiyama, Harumi Yoshinaga, Katsuhiro Kobayashi

Human Genome Variation 2 ( 1 ) 15048 - 15048 2015年12月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Springer Nature

Novel PLA2G6 mutations associated with p.Asp283Asn and a unique intragenic deletion of exons 4 and 5 due to non-allelic homologous recombination were identified in a Japanese female patient with typical infantile neuroaxonal dystrophy. The patient showed progressive tetraplegia beginning at 9 months. An electroencephalogram showed a diffuse increase in fast waves, and brain magnetic resonance imaging showed progressive brain atrophy and T2 hypointensity in the globus pallidus.

DOI： 10.1038/hgv.2015.48

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