Abstract:
BACKGROUND:Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement. OBJECTIVE:To identify clinical manifestations and DDC gene mutations in two Chinese mainland children who are siblings with AADC deficiency. METHODS:We used targeted next-generation sequencing and quantitative polymerase chain reaction (qPCR) to reveal DDC mutations in these children. RESULTS:Two DDC gene mutations were found: one missense mutation, c.1040G > A (p.Arg347Gln), is a reported mutation derived from the mother; the other mutation, a whole-exon 11 and 12 deletion, is a novel mutation derived from the father. The index patient and her brother both had poor sucking power and feeding difficulty at birth and episodes of oculogyric crises, truncal hypotonia, limb hypertonia, sleep disturbances, irritability, and motor delay. The siblings both died at 1 year and 10 months due to asphyxia and pneumonia during gaze and hypertonia episodes. CONCLUSION:This study identified a novel DDC gene deletion mutation in two siblings with AADC deficiency disease in the Chinese mainland population.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Dai L,Ding C,Fang Fdoi
10.1016/j.braindev.2018.08.003subject
Has Abstractpub_date
2019-02-01 00:00:00pages
205-209issue
2eissn
0387-7604issn
1872-7131pii
S0387-7604(18)30396-6journal_volume
41pub_type
杂志文章abstract::Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents....
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(98)00002-3
更新日期:1998-04-01 00:00:00
abstract::Spasms are a form of epileptic seizure typical of infancy. From a clinical point of view, the child presents a flexor-extensor movement involving the trunk and limbs and lasting about 1s. Although asymmetry can be present, the seizure involves both sides of the body. The ictal discharge most frequently associated with...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(01)00284-4
更新日期:2001-11-01 00:00:00
abstract::MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal marker) and increased myo-inositol (astroglial marker) with a ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.06.013
更新日期:2018-11-01 00:00:00
abstract::The diagnosis of fragile X A syndrome (FRAXA) during childhood depends largely on DNA-based diagnostic tests due to the lack of the specific clinical features. To determine a non-invasive screening method for fragile X syndrome, we studied the method of DNA-based diagnosis using urine or hair roots instead of routinel...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2003.11.002
更新日期:2004-09-01 00:00:00
abstract::The stereotyped movement of hands, one of the core symptoms of the Rett syndrome (RS), was analyzed to study the pathophysiology. The development of hand function was delayed after mid-infancy and handedness was undetermined in most cases. Before the onset of the pathognomonic stereotypy, patients showed excessive or ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80170-7
更新日期:1990-01-01 00:00:00
abstract::The purpose of this study was to evaluate the ability of the test of variables of attention (TOVA) to distinguish between 6- to 12-year-old Japanese male children with attention deficit hyperactivity disorder (ADHD group; n=17) meeting DSM-IV and ICD-10 criteria, and age-matched, normal Japanese male controls (control...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00168-6
更新日期:2000-09-01 00:00:00
abstract::We report on a 9-year-old boy who presented with acute encephalopathy and hemophagocytic lymphohistiocytosis (HLH). The patient was referred to our hospital because of fever, seizures, and decreased consciousness. He showed moderately elevated levels of proinflammatory cytokines in the cerebrospinal fluid and plasma, ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.07.005
更新日期:2012-05-01 00:00:00
abstract::The pathological role of autoantibodies in development of CNS disorders is a new idea with growing interest among neuroscientists. The involvement of autoimmune response in the pathogenesis of autism spectrum disorders (ASD) has been suggested by the presence of multiple brain-specific autoantibodies in children with ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.04.015
更新日期:2014-04-01 00:00:00
abstract::This paper reports 504 cases admitted with acute polyradiculoneuritis (AP) to Beijing Children's Hospital from 1975 through 1984. 343 of the 504 cases (68.1%) with AP had respiratory paralysis and in 198/504 (39.3%), tracheotomy was performed. In this study, none of the patients received steroids. We attempted to asse...
journal_title:Brain & development
pub_type: 杂志文章
doi:
更新日期:1988-01-01 00:00:00
abstract::Molecular background of neurogenetic disease is briefly reviewed. Importance and usefulness of genetic testing are emphasized. Molecular genetics is a powerful tool for investigation of epileptic syndromes. Diagnosis based on gene analysis will give a new insight for pathophysiology and clinical outcome of the patient...
journal_title:Brain & development
pub_type: 历史文章,杂志文章,评审
doi:10.1016/j.braindev.2011.01.007
更新日期:2011-10-01 00:00:00
abstract:BACKGROUND:The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarit...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.06.008
更新日期:2010-05-01 00:00:00
abstract::The aim of this study is to determine the efficacy of prophylactic treatment for patients with febrile convulsions (FCs) in whom electroencephalograms (EEGs) revealed epileptiform discharges. We retrospectively investigated 43 patients who met the following criteria: (a) at least one FC during the study period; (b) ep...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/S0387-7604(03)00161-X
更新日期:2004-06-01 00:00:00
abstract::Germ cell tumors originating in the posterior fossa are very rare. Described herein is a case of primary germ cell tumor (yolk sac tumor) found in the cerebellar vermis. A 5-year-old boy who complained of headache was admitted. CT and MRI revealed a tumor with diffuse enhancement by contrast medium in the right cerebe...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90128-7
更新日期:1994-09-01 00:00:00
abstract::This is the first case report on the diagnosis of spinal cord injury due to hemorrhage during the neonatal period using magnetic resonance imaging (MRI). Somatosensory evoked potentials are also helpful in the functional demonstration of this lesion. When discrepant signs, alert consciousness and intact cranial nerves...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90114-7
更新日期:1994-01-01 00:00:00
abstract::The pathogenesis of Menkes disease seems to be linked to metallothionein which binds to copper trapped within cells in some tissues. The only known therapy for this disease is parenteral administration of copper, but the effects are equivocal. We treated a patient with Menkes disease by giving vitamin C orally. The cl...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80122-4
更新日期:1985-01-01 00:00:00
abstract::Cat scratch disease (CSD) is a zoonotic illness caused by the Gram negative bacillus Bartonella henselae characterized by a small skin lesion at the site of a bite, lick or scratch by a cat, commonly followed by regional lymphadenopathy 1 or 2 weeks later. We report herein on severe neurological complications of CSD c...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.11.001
更新日期:2007-07-01 00:00:00
abstract:INTRODUCTION:Neuroimaging studies demonstrate that not only the lesions of malformations of cortical development (MCD) but also the normal-appearing parenchyma (NAP) present metabolic impairments, as revealed with (1)H-MRS. We have previously detected biochemical disturbances in MCD lesions with phosphorus-31 magnetic ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.12.010
更新日期:2014-11-01 00:00:00
abstract:INTRODUCTION:Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently bee...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.01.010
更新日期:2018-06-01 00:00:00
abstract::The aim of this study is to reveal detailed clinical manifestations and an evolution of ictal EEG discharges of convulsions with mild gastroenteritis (CwG). We recorded ictal EEGs of six patients with CwG. Clinical manifestations included loss of responsiveness, motion arrest, cyanosis, lateral eye deviation, and hemi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.06.002
更新日期:2007-01-01 00:00:00
abstract::We performed screening of beta-galactosidase-deficient fibroblasts for possible chemical chaperone therapy using N-octyl-4-epi-beta-valienamine (NOEV) in patients with GM1-gangliosidosis and Morquio B disease (beta-galactosidosis). Fibroblasts were cultured with NOEV for 4 days and beta-galactosidase activity was meas...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.02.002
更新日期:2006-09-01 00:00:00
abstract::Wolf-Hirschhorn syndrome (WHS) is associated with partial deletion of short arm of chromosome 4, and characterized by severe growth retardation. Other characteristic features are microcephaly, intellectual handicap, Greek helmet facies and closure deficits such as cleft lip or cleft palate, coloboma of the eye, and ca...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/S0387-7604(03)00125-6
更新日期:2004-04-01 00:00:00
abstract: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 consangui...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.04.010
更新日期:2020-09-01 00:00:00
abstract::Thirty-one epileptic patients, selected from among 900 children with previous febrile convulsions and subsequent epilepsy, were typed for HLA antigens. In 16 of the 31 patients CMV was isolated from the urine shortly after the appearance of spontaneous fits; in the remaining 15 patients the virus was never detected. A...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80008-1
更新日期:1988-01-01 00:00:00
abstract::Neuromyelitis optica (NMO) is an inflammatory demyelinating disease with a poor prognosis that is characterized by inflammatory optic neuritis and myelitis. Although it is commonly misdiagnosed as multiple sclerosis (MS), distinguishing NMO from MS is important, as therapeutic approaches approved for MS are ineffectiv...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.03.015
更新日期:2015-01-01 00:00:00
abstract::Schizencephaly is an uncommon structural disorder of cerebral cortical development, characterized by congenital clefts spanning the cerebral hemispheres from the pial surface to the lateral ventricles and lined by cortical gray matter. Either an antenatal environmental incident or a genetic origin could be responsible...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00173-x
更新日期:2000-12-01 00:00:00
abstract::Herpes simplex encephalitis (HSE) is a widely accepted risk factor for anti N-methyl-d-aspartate receptor (NMDAR) encephalitis. Association of inherited metabolic disease has never been reported in a patient with HSE and anti-NMDAR encephalitis. Herein, we report a case of pediatric HSE complicated by development of a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.03.013
更新日期:2019-08-01 00:00:00
abstract::Serial polygraphic recordings of two to three hours duration were made in five full-term newborns with trisomy 18 and one full-term newborn with trisomy 13 syndrome. The newborns with 18 trisomy syndrome were poor sleepers with long periods of wakefulness and/or drowsiness. There were no consistent abnormalities in th...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(79)80029-7
更新日期:1979-01-01 00:00:00
abstract::This report describes a 60-year-old female patient with Krabbe disease who presented with slowly progressive gait disturbance due to mild spastic paraplegia. Brain magnetic resonance imaging showed high-intensity lesions along the upper parts of the bilateral pyramidal tracts in fluid-attenuated inversion recovery ima...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.08.004
更新日期:2013-06-01 00:00:00
abstract::We measured neopterin, biopterin and nitric oxide (NO) concentrations in the cerebrospinal fluid of pediatric patients with central nervous system (CNS) infectious diseases. The nitric oxide and neopterin concentrations were significantly elevated in encephalitis patients, especially in two cases with serious neurolog...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00217-6
更新日期:2003-04-01 00:00:00
abstract::Seventeen normal term infants delivered at the Jikei University School of Medicine were placed daily on a pedoscope in the supine and prone position after birth, and the movement of the gravity center and changes in the activities of the extremities were assessed. The results indicated that both the activity of the ex...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80118-8
更新日期:1986-01-01 00:00:00