Mitochondrial disease: clinical aspects, molecular mechanisms, translational science, and clinical frontiers.

Abstract:

:Mitochondrial medicine provides a metabolic perspective on the pathology of conditions linked with inadequate oxidative phosphorylation. Dysfunction in the mitochondrial machinery can result in improper energy production, leading to cellular injury or even apoptosis. Clinical presentations are often subtle, so clinicians must have a high index of suspicion to make early diagnoses. Symptoms could include muscle weakness and pain, seizures, loss of motor control, decreased visual and auditory functions, metabolic acidosis, acute developmental regression, and immune system dysfunction. The 2013 Neurobiology of Disease in Children Symposium, held in conjunction with the 42nd Annual Meeting of the Child Neurology Society, aimed to (1) describe accepted clinical phenotypes of mitochondrial disease produced from various mitochondrial mutations, (2) discuss contemporary understanding of molecular mechanisms that contribute to disease pathology, (3) highlight the systemic effects produced by dysfunction within the mitochondrial machinery, and (4) introduce current strategies that are being translated from bench to bedside as potential therapeutics.

journal_name

J Child Neurol

authors

Thornton B,Cohen B,Copeland W,Maria BL

doi

10.1177/0883073814537379

subject

Has Abstract

pub_date

2014-09-01 00:00:00

pages

1179-207

issue

9

eissn

0883-0738

issn

1708-8283

pii

0883073814537379

journal_volume

29

pub_type

  • Executive function and cerebrovascular reactivity in pediatric hypertension.

    abstract::Primary hypertension is associated with decreased performance on neurocognitive testing and a blunted cerebrovascular reactivity to hypercapnia. Parents of 14 children with hypertension and prehypertension completed the Behavior Rating Inventory of Executive Functions. Children underwent 24-hour ambulatory blood press...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073813494264

    authors: Ostrovskaya MA,Rojas M,Kupferman JC,Lande MB,Paterno K,Brosgol Y,Pavlakis SG

    更新日期:2015-04-01 00:00:00

  • Sphenoid sinusitis masquerading as migraine headaches in children.

    abstract::The sphenoid sinus is often referred to as the "neglected sinus." Isolated sphenoid sinusitis is a rare disease with potentially devastating complications. It occurs at an incidence of about 2.7% of all sinus infections. Although headache is the most common presenting symptom, there is no typical headache pattern. Thr...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307380101601203

    authors: Ng YT,Butler IJ

    更新日期:2001-12-01 00:00:00

  • A child with Diamond-Blackfan anemia, methylenetetrahydrofolate reductase mutation, and perinatal stroke.

    abstract::Diamond-Blackfan anemia is a congenital hypoproliferative anemia known to be associated with diverse physical anomalies affecting the thumb, craniofacial bones, urogenital system, and heart; prematurity; and fetal demise. We report the case of a 16-month-old boy with Diamond-Blackfan anemia noted to have decreased use...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738030180111301

    authors: Butrum MW,Williams LS,Golomb MR

    更新日期:2003-11-01 00:00:00

  • Systemic and ocular findings in 100 patients with optic nerve hypoplasia.

    abstract::To describe associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia, a retrospective chart review of 100 patients with optic nerve hypoplasia for the presence of neurologic, radiologic, and endocrine abnormalities was performed. Neuroimaging and endocrine studies we...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738060210111701

    authors: Garcia ML,Ty EB,Taban M,David Rothner A,Rogers D,Traboulsi EI

    更新日期:2006-11-01 00:00:00

  • Periodic Eye Movements and Epileptic Spasms in West Syndrome.

    abstract::In addition to the typical infantile spasm symptoms, several other symptoms, such as eye movements, have been reported to be associated with infantile spasms, although the relationship between the typical spasms and these other events is not fully understood. Here we present a case with West syndrome. We observed the ...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073813489169

    authors: Kakisaka Y,Kobayashi T,Hino-Fukuyo N,Uematsu M,Numata Y,Mori M,Kure S

    更新日期:2013-11-01 00:00:00

  • Neutropenia in Children Treated With Ketogenic Diet Therapy.

    abstract:OBJECTIVES:The objectives were to investigate the relationship between ketogenic diet therapy and neutropenia in children with epilepsy. METHODS:A retrospective chart review of children who initiated ketogenic diet at the Hospital for Sick Children between January 1, 2000, and May 1, 2018 was performed. Factors associ...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073820984067

    authors: Munro K,Keller AE,Lowe H,Ferrara E,Whitney R,Liu CYM,Zak M,Chan V,Kobayashi J,Donner EJ

    更新日期:2021-01-04 00:00:00

  • Effects of Developmental Age on Symptom Reporting and Neurocognitive Performance in Youth After Sports-Related Concussion Compared to Control Athletes.

    abstract::There is increased necessity to focus research on school-aged athletes with sports-related concussion (SRC). This study assessed differences in symptom reporting and neurocognitive performance in youth athletes who sustained a sports-related concussion. A total of 1345 concussed and 3529 nonconcussed athletes (ages 8-...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073818766815

    authors: Murdaugh DL,Ono KE,Morris SO,Burns TG

    更新日期:2018-06-01 00:00:00

  • Activated remodeling and N-methyl-D-aspartate (NMDA) receptors in cortical dysplasia.

    abstract::Cortical dysplasia is now recognized as one of the major etiologies causing intractable epilepsy in childhood. Dysplastic cortex displays cortical dyslamination, which is often associated with dysmorphic large neurons and less frequently with balloon cells. The dysmorphic large neurons are commonly located in the subc...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审

    doi:10.1177/08830738050200040601

    authors: Yamanouchi H

    更新日期:2005-04-01 00:00:00

  • Coexisting muscular dystrophies and epilepsy in children.

    abstract::Muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy an...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738060210021601

    authors: Tsao CY,Mendell JR

    更新日期:2006-02-01 00:00:00

  • Infant-onset progressive myoclonus epilepsy.

    abstract::We report the clinical, electroencephalographic, neurophysiologic, and neuroimaging findings in eight children with infant-onset progressive myoclonus epilepsy, all of whom had muscle biopsies performed as as part of the diagnostic evaluation. Each child had myoclonic seizures, generalized tonic-clonic seizures, and n...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389100600207

    authors: Harbord MG,Hwang PA,Robinson BH,Becker LE,Hunjan A,Murphy EG

    更新日期:1991-04-01 00:00:00

  • A Prospective, Crossover Survey Study of Child- and Proxy-Reported Quality of Life According to Spinal Muscular Atrophy Type and Medical Interventions.

    abstract:BACKGROUND:Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals. OBJECTIVES:To report on the quality...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073819900463

    authors: Weaver MS,Hanna R,Hetzel S,Patterson K,Yuroff A,Sund S,Schultz M,Schroth M,Halanski MA

    更新日期:2020-04-01 00:00:00

  • Clinical experience on headache in children: analysis of 92 cases.

    abstract::We analyzed, retrospectively, 92 patients with headache to determine the changes in the order of frequency of causes with the development of neuroimaging studies and its efficacy in the investigation of patients with headache. The type of headache was redefined according to the International Headache Society (IHS) dia...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389801300502

    authors: Aysun S,Yetük M

    更新日期:1998-05-01 00:00:00

  • Seizures as a presentation of a pelvic neuroblastoma in a 5-month-old infant.

    abstract::Epilepsy is a very uncommon first manifestation of a neuroblastoma. A 5-month-old healthy infant presented with acute onset seizures and developmental regression. Extensive investigation was remarkable for urinary vanillylmandelic acid and homovanillic acid peaks. Abdominopelvic magnetic resonance imaging (MRI) disclo...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073812461946

    authors: Martins CL,Monteiro JP,Pereira F,Calhau P,Fonseca MJ

    更新日期:2014-01-01 00:00:00

  • Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.

    abstract::Myoclonus epilepsy with ragged red fibers (MERRF) is one of the major mitochondrial encephalomyopathies. Its main clinical features are myoclonus epilepsy, ataxia, and myopathy with ragged red fibers. Whereas there is a close correlation between MERRF syndrome and the A8344G mutation of mitochondrial DNA, the reverse ...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738060210010901

    authors: Orcesi S,Gorni K,Termine C,Uggetti C,Veggiotti P,Carrara F,Zeviani M,Berardinelli A,Lanzi G

    更新日期:2006-01-01 00:00:00

  • Paroxysmal facial itch: a presenting sign of childhood brainstem glioma.

    abstract::Two children with neurofibromatosis and a chief complaint of severe, episodic, unilateral facial itching were found to have brainstem glioma. Initial computerized tomography of the brain was thought to be normal, but the brainstem tumor was subsequently demonstrated on magnetic resonance imaging. The paroxysmal facial...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307388800300308

    authors: Summers CG,MacDonald JT

    更新日期:1988-07-01 00:00:00

  • Meningismus is a commonly overlooked finding in tension-type headache in children and adolescents.

    abstract::At present, both migraine and tension-type headaches in children are believed to be chronic primary headaches. Meningeal signs in both cases are ignored or not examined, and the neurologic status is considered normal. This is the first study that focuses on meningeal signs in children with chronic headaches. The study...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738060210050601

    authors: Almazov I,Brand N

    更新日期:2006-05-01 00:00:00

  • High-dose riboflavin for migraine prophylaxis in children: a double-blind, randomized, placebo-controlled trial.

    abstract::This is the first study to evaluate the efficacy of riboflavin for migraine prophylaxis in children. This was a randomized, double-blind study of riboflavin (200 mg daily) versus placebo in 48 children. The primary efficacy measure was the number of patients achieving a 50% or greater reduction in the number of migrai...

    journal_title:Journal of child neurology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1177/0883073808318053

    authors: MacLennan SC,Wade FM,Forrest KM,Ratanayake PD,Fagan E,Antony J

    更新日期:2008-11-01 00:00:00

  • Brainstem multiple sclerosis in an 11-year-old child presenting as acute disseminated encephalomyelitis.

    abstract::Multiple sclerosis and acute disseminated encephalomyelitis are demyelinating disorders of the central nervous system that can present initially as an acute focal demyelinating syndrome. We report an 11-year-old girl who initially presented with intractable vomiting and hypertension and later developed a subacute onse...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389501000611

    authors: Mostafapour SP,Enzmann D,North W,Hahn JS

    更新日期:1995-11-01 00:00:00

  • Practical aspects of conducting large-scale functional magnetic resonance imaging studies in children.

    abstract::The potential benefits of functional magnetic resonance imaging (MRI) for the investigation of normal development have been limited by difficulties in its use with children. We describe the practical aspects, including failure rates, involved in conducting large-scale functional MRI studies with normal children. Two h...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738020170122201

    authors: Byars AW,Holland SK,Strawsburg RH,Bommer W,Dunn RS,Schmithorst VJ,Plante E

    更新日期:2002-12-01 00:00:00

  • Technetium 99m ethylcysteinate dimer single-photon emission computed tomography (SPECT) during intellectual stress test in children and adolescents with pure versus comorbid attention-deficit hyperactivity disorder (ADHD).

    abstract::Children and adolescents with the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV) diagnosis of attention-deficit hyperactivity disorder (ADHD) can have comorbid conditions such as conduct disorder, oppositional defiant disorder, and obsessive-compulsive disorder (comorbid type). The purpose of our st...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738040190020201

    authors: Lorberboym M,Watemberg N,Nissenkorn A,Nir B,Lerman-Sagie T

    更新日期:2004-02-01 00:00:00

  • Meralgia paresthetica in the pediatric population: a propos of 2 cases.

    abstract::Meralgia paresthetica is a mononeuropathy affecting the lateral femoral cutaneous nerve that is extremely rare in children. Two adolescent females, aged 11 and 13 years, presented due to tingling and pain on the side of the thigh of 2 to 3 weeks duration. The general examination revealed mild obesity; the neurological...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073809336130

    authors: Fernández-Mayoralas DM,Fernández-Jaén A,Jareño NM,Pérez BC,Fernández PM,Sola AG

    更新日期:2010-01-01 00:00:00

  • Neurobehavioral and neurologic outcome in long-term survivors of posterior fossa brain tumors: role of age and perioperative factors.

    abstract::We evaluated the neuropsychological and neurologic outcome of 15 long-term survivors of posterior fossa tumors who were treated between 1970 and 1984 with cranial irradiation (n = 15) and surgery (n = 14). The interval between diagnosis and evaluation ranged from 4 to 20 years (median = 10 years). Earlier age at diagn...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389501000308

    authors: Chapman CA,Waber DP,Bernstein JH,Pomeroy SL,LaVally B,Sallan SE,Tarbell N

    更新日期:1995-05-01 00:00:00

  • Neurodevelopment of Nonmicrocephalic Children, After 18 Months of Life, Exposed Prenatally to Zika Virus.

    abstract::The aim of this work was to evaluate the cognitive, language, and motor development, after 18 months of life, of nonmicrocephalic children born to mothers with Zika virus infection during pregnancy. Participants were 37 children aged 18-29 months divided into 2 groups: 17 nonmicrocephalic children born to mothers who ...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073819892128

    authors: Gerzson LR,de Almeida CS,Silva JHD,Feitosa MMA,de Oliveira LN,Schuler-Faccini L

    更新日期:2020-03-01 00:00:00

  • Respiratory sinus arrhythmia in children with severe cyanotic and pallid breath-holding spells.

    abstract::In this study we investigated centrally mediated parasympathetic regulation of modulated cardiac vagal tone among children with severe cyanotic and pallid breath-holding spells by examining respiratory sinus arrhythmia. Respiratory sinus arrhythmia was evaluated in 41 children; 17 subjects with cyanotic breath-holding...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389801300905

    authors: DiMario FJ Jr,Bauer L,Baxter D

    更新日期:1998-09-01 00:00:00

  • Characteristic brain magnetic resonance imaging (MRI) findings in neonates with tuberous sclerosis complex.

    abstract::We describe the brain magnetic resonance imaging (MRI) findings in eight neonates with tuberous sclerosis complex to further delineate the spectrum of characteristic findings in these patients. In addition to the previously described characteristic brain MRI findings in neonates, which included cortical tuber, transma...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738060210042301

    authors: Arca G,Pacheco E,Alfonso I,Duchowny MS,Melnick SJ

    更新日期:2006-04-01 00:00:00

  • Neurofibromatosis type 1: magnetic resonance imaging findings.

    abstract::The purpose of this study was to determine the locations and characterize the types of brain abnormalities noted on brain magnetic resonance imaging in patients with probable and definite neurofibromatosis type 1. Patients with definite neurofibromatosis type 1 (n = 17) were studied when clinically indicated, and pati...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389300800105

    authors: DiMario FJ Jr,Ramsby G,Greenstein R,Langshur S,Dunham B

    更新日期:1993-01-01 00:00:00

  • The Oklahoma City bombing: a personal account.

    abstract::On April 19, 1995, Oklahoma City (and the United States) lost its innocence. Almost all Oklahomans can relate exactly what they were doing either at 9:02 AM that day or when they first learned of the bombing. Of course, the whole world watched the events unfold through around-the-clock television coverage. One of the ...

    journal_title:Journal of child neurology

    pub_type: 传,历史文章,杂志文章

    doi:10.1177/088307389501000510

    authors: Spengler C

    更新日期:1995-09-01 00:00:00

  • Neurologic sequela in a patient with galactosemia potentially mediated by interleukin-11 dysfunction.

    abstract::A 16-year-old galactosemic patient, homozygous for the 5.5-kb gene deletion, suffered severe neurologic regression following streptococcal infection. Since the gene deletion includes the promoter of interleukin-11a receptor involved in neuronal apoptosis, we questioned whether this patient had no interleukin-11a recep...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073814540520

    authors: Winter GN,Ben-Pazi H

    更新日期:2015-06-01 00:00:00

  • Cardiac and central nervous system vasculitis in a child with dermatomyositis.

    abstract::Cerebral vasculitis and clinically important myocardial inflammation are rare in juvenile dermatomyositis. We report a previously healthy 6-year-old girl with dermatomyositis who died after a fulminating clinical deterioration. Postmortem examination of the heart revealed characteristic endothelial tubuloreticular agg...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389400900315

    authors: Jimenez C,Rowe PC,Keene D

    更新日期:1994-07-01 00:00:00

  • Neuropathologic findings in Reye syndrome.

    abstract::Brain tissue from three patients with a clinical diagnosis of Reye syndrome was compared with tissue from three control patients. All Reye syndrome patients demonstrated cytotoxic cerebral edema, with swelling of astrocyte foot processes, which was not seen in controls. Myelin sheath splitting was seen both in control...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389100600108

    authors: Blisard KS,Davis LE

    更新日期:1991-01-01 00:00:00