Abstract：
INTRODUCTION:The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2) with early onset. This gene is involved in typical CMT2A and in more atypical phenotypes as optic atrophy or spastic paraplegia. CMT2 refers to inherited axonal polyneuropathy, which associates progressive peripheral motor and sensory neuropathy, a family history consistent mainly with autosomal dominant inheritance, and normal nerve conduction velocities. SUBJECTS:Between 1999 and 2012, the genetic diagnosis of MFN2 mutation was made in 11 children who were treated in our department for different neurological symptoms. All data including family and personal history data, results of standardized clinical and electrophysiology testing, brain magnetic resonance imaging (MRI), neuro-ophthalmic evaluation, muscle biopsy histopathology and molecular diagnosis were retrospectively analyzed. RESULTS:Five different mutations were found in 6 unrelated families. Three of them have previously been described; the two remaining are new mutations: one of them related a new phenotype. Clinical signs appeared before the age of 6 years in more than half of the patients (54%). The motor deficit was predominant in 8 patients (72%). Two children presented an acute onset of disease that stabilized afterwards; the other children showed a more progressive deterioration that was managed symptomatically. CONCLUSION:This large pediatric study describes a great interfamilial and intrafamilial phenotypic variability. We recommend screening this gene in pediatric patient with chronic neurologic symptoms such as motor deficit or optic atrophy but also in acute neurologic deficiencies such as subacute polyradiculoneuritis.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Di Meglio C,Bonello-Palot N,Boulay C,Milh M,Ovaert C,Levy N,Chabrol Bdoi
10.1016/j.braindev.2015.11.006subject
Has Abstractpub_date
2016-05-01 00:00:00pages
498-506issue
5eissn
0387-7604issn
1872-7131pii
S0387-7604(15)00236-3journal_volume
38pub_type
杂志文章abstract：:In a patient with holoprosencephaly, partial seizures had various initial ictal symptoms, and ictal EEGs showed epileptogenic foci in the right and left brain. Partial seizures did not culminate in secondary generalized tonic-clonic convulsions. Characteristic malformed structures contribute to the absence of secondar...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00217-0
更新日期：2001-07-01 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：:MRI appearance of Sturge-Weber Syndrome (SWS) in patients with Tuberous Sclerosis (TSC) has been rarely reported. We describe a new patient with confirmed diagnosis of TSC and MRI appearance of SWS and review the pertinent literature. We discuss these findings on the basis of the new classifications of brain malformat...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.06.004
更新日期：2009-05-01 00:00:00
abstract：:Patients with germline phosphatidylinositol glycan biosynthesis class A (PIGA) related disorder have historically been categorized into one of two distinct subtypes: a severe form which is often fatal, and a less severe form. However, the increasing number of cases with features indicative of both subtypes raise the p...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2019.10.002
更新日期：2020-02-01 00:00:00
abstract：:We report a 20-month-old girl with an unruptured aneurysm of the middle cerebral artery. The initial sign was complex partial seizures. Magnetic resonance angiography showed an aneurysm of the right middle cerebral artery. Cerebral angiography confirmed the presence of a saccular aneurysm. After 3 months, the aneurysm...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90076-0
更新日期：1994-05-01 00:00:00
abstract：OBJECTIVE:In order to evaluate whether face perception is intact or not in Williams syndrome (WS), the face inversion effects (FIE) in the event-related potential (ERP) or magnetoencephalography (MEG) were investigated in three teenaged patients with WS. METHODS:Responses to the inverted faces and upright faces were c...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.05.010
更新日期：2013-04-01 00:00:00
abstract：:Mutations in the methyl-CpG-binding protein 2 gene (MECP2) are identified in the majority of females with Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder. We searched for mutations by sequencing the MECP2 coding region in 45 sporadic cases (35 with classic RTT, eight with variant forms and two ma...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00339-4
更新日期：2001-12-01 00:00:00
abstract：:Eighteen female patients are described with the clinical features of Rett syndrome. Fifteen patients fulfill the criteria established by Hagberg et al hereas three represent clinical variants. Detailed biochemical and neurodiagnostic assessment was conducted in all patients. Reduction in cerebrospinal biogenic amine m...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(87)80063-3
更新日期：1987-01-01 00:00:00
abstract：BACKGROUND:Congenital hypothyroidism is the most common reason of mental retardation, and normal neurological development can be provided by early and effective treatment. In this present study, it is aimed to compare neurological developments of patients in 6-42 months of age with congenital hypothyroidism and healthy...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.07.003
更新日期：2013-05-01 00:00:00
abstract：:Generalized lymphatic anomaly is a multifocal lymphatic malformation that affects the skin, thoracic viscera, and bones. A 3year-old Japanese boy presented with right facial palsy due to cystic tumors in the ipsilateral petrous bone. Pericardial effusion had been found incidentally and generalized lymphatic anomaly ha...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.12.007
更新日期：2017-05-01 00:00:00
abstract：:Pelizaeus-Merzbacher-like disease (PMLD) is a hypomyelinating disorder of the central nervous system caused by mutation in the gap junction protein alpha 12 (GJA12) gene. Uniparental disomy (UPD) is defined as the presence of a chromosome pair, in a diploid individual, that derives from only one parent. Here, we analy...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.03.013
更新日期：2010-03-01 00:00:00
abstract：:The present study was undertaken to clarify how we should assess the necessity of close follow-up in each case, when we first examine an infant with ankle clonus within the first year of life. The neurologic prognoses of 169 infants who had exhibited ankle clonus at least once during the first year of life were review...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(96)00069-1
更新日期：1997-01-01 00:00:00
abstract：:Coffin-Lowry syndrome is an X-linked mental retardation disorder with dysmorphism caused by mutation of the ribosomal S6 kinase (RSK2) gene. Coffin-Lowry syndrome patients can experience unusual drop episodes whereby an abrupt loss of muscle tone and falling down can be induced by sudden, unexpected tactile or auditor...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.02.015
更新日期：2005-03-01 00:00:00
abstract：:713 children (from newborn to 12-month-old) with delayed motor development were carefully examined and classified into normal, very light cerebral coordination disturbance (CCD, Vojta), light CCD, moderate CCD, severe CCD, suspected cerebral palsy (CP) and other diseases at their first visit, and were followed up care...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80024-2
更新日期：1983-01-01 00:00:00
abstract：OBJECTIVES:Several neurotransmitters involved in brain development are altered in fragile X syndrome (FXS), the most common monogenic cause of autism spectrum disorder (ASD). Serotonin plays a vital role in synaptogenesis and postnatal brain development. Deficits in serotonin synthesis and abnormal neurogenesis were sh...
journal_title：Brain & development
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.braindev.2017.01.012
更新日期：2017-06-01 00:00:00
abstract：UNLABELLED:X-linked adenoleukodystrophy is a genetic disease that affects the degradation of very long-chain fatty acids. In male patients, common pictures are the cerebral form (CALD), myeloneuropathy (AMN), and Addison-only. OBJECTIVE:To describe the clinical course of affected male patients from South Brazil betwee...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.02.002
更新日期：2010-03-01 00:00:00
abstract：:The long-term effectiveness of acetazolamide (AZA) and its side effects, especially the formation of renal calculi, were investigated in a prospective study when AZA was used as an adjunct to other antiepileptic drugs in the treatment of refractory epilepsies. The subjects comprised 37 patients aged from 1 to 17 years...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(02)00003-7
更新日期：2002-04-01 00:00:00
abstract：BACKGROUND:The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patien...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.06.004
更新日期：2018-01-01 00:00:00
abstract：:Propionic acidemia manifesting with hyperglycemia is rare. Few cases have been reported mainly of the neonatal-onset form associated with high mortality. We report a 9-month-old Palestinian boy who manifested with coma, severe hyperglycemia and ketoacidosis mimicking diabetic ketoacidosis. Family history of unexplaine...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.06.016
更新日期：2011-05-01 00:00:00
abstract：:Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00316-3
更新日期：2001-12-01 00:00:00
abstract：PURPOSE:Fukuyama congenital muscular dystrophy (FCMD) is a congenital muscular dystrophy rarely reported outside Japan. Here, we report three patients with Fukuyama congenital muscular dystrophy (FCMD) in China who shared a similar clinical phenotype and 3-kb insertion in the FKTN 3' untranslated region. METHODS:Immun...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.02.010
更新日期：2015-10-01 00:00:00
abstract：:Alternating hemiplegia in childhood (AHC) has clinically characteristic features which are easily defined and recognizable. Laboratory investigations were basically normal although they were extensively examined during and between attacks. There is still much debate about its etiology, particularly its relation to mig...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(12)80144-6
更新日期：1992-09-01 00:00:00
abstract：BACKGROUND:Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clini...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.04.008
更新日期：2018-09-01 00:00:00
abstract：:Previously we have observed different characteristic chromatographic ultraviolet absorbancy profiles at 280 nm for urinary protein precipitates from patients with behavioral disorders. The purpose with this study was to look for similar changes in urinary protein excretion from the grossly disabled patients with the R...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80042-5
更新日期：1985-01-01 00:00:00
abstract：:Serial changes of MRI scanning of an 11-year-old boy with hemiparesis due to a germ cell tumor in the basal ganglia are presented. Initial brain MRI T1-weighted images revealed a subtle mixed signal intensity lesion at left anterior and posterior limbs of the internal capsule. This lesion was not enhanced with Gd-DTPA...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(93)90024-3
更新日期：1993-07-01 00:00:00
abstract：:The present study analyzed changes in cerebral blood volume (CBV) during apnea associated with hypoxia compared to apnea without hypoxia. Hypoxia was defined as pulsoxymetric oxygen saturation <80%>10 s. The employed technique was near infrared spectroscopy combined with electrocardiogram, electroocologram, pulsoxymet...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00121-3
更新日期：2003-01-01 00:00:00
abstract：:We report the pedigree of a family in which a mother and her two children, a boy and a girl, all suffer from a similar, though variably expressed cerebral disorder, seen on CT as uni- or bilateral cavities within the supratentorial white matter in communication with the ventricular system. Additional white matter hypo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80010-8
更新日期：1984-01-01 00:00:00
abstract：:Congenital cerebellar ataxia is usually thought to be of cerebellar origin. We report two children with congenital cerebellar ataxia, in whom neuroimaging investigations suggest the possibility of a parietal etiology. The two boys showed hypotonia, delayed motor and cognitive development followed by marked, truncally ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00021-7
更新日期：1998-06-01 00:00:00
abstract：:Recent postmortem studies have suggested that sudden infant death syndrome (SIDS) might involve an underlying, gradual brain stem injury caused by repeated episodes of transiently compromised brain stem circulation. Autopsy studies have also reported that vertebral artery occlusion due to head rotations, such as occur...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(03)00004-4
更新日期：2003-08-01 00:00:00
abstract：:A patient with adrenoleukodystrophy was successfully treated by means of intravenous gammaglobulin injections. The clinical symptoms, especially visual loss, were apparently relieved and no neurological deterioration was observed during a 18-month period following the start of the gammaglobulin treatment. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80083-x
更新日期：1989-01-01 00:00:00
