Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature.

No abstract is available for this paper.

• Publication year

  1987

• Venue

  Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/S0303-8467(87)80020-3PMID 3319345
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Spongiform subacute necrotising encephalomyelopathy

  2004cited by this paper
• Leigh's subacute necrotizing encephalomyelopathy: Possible diagnosis by CT scan

  2004cited by this paper
• CT scan appearances in Leigh's disease (subacute necrotizing encephalomyelopathy)

  2004cited by this paper
• X-Linked Leigh's syndrome

  2004cited by this paper
• Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).

  1987cited by this paper
• MR of Leigh's disease (subacute necrotizing encephalomyelopathy).

  1987cited by this paper
• Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy.

  1987cited by this paper
• [Voluntary methanol poisoning. Severe regressive encephalopathy with anomalies on x-ray computed tomography].

  1986cited by this paper
• Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P‐NMR follow‐up study

  1986cited by this paper
• Magnetic resonance imaging in subacute necrotizing encephalomyelopathy (Leigh's disease)

  1986cited by this paper
• Riboflavin‐responsive lipid‐storage myopathy and glutaric aciduria type II of early adult onset

  1986cited by this paper
• Treatment of Kearns‐Sayre syndrome with coenzyme Q10

  1986cited by this paper
• The clinical features of mitochondrial myopathy.

  1986cited by this paper
• Investigation of human mitochondrial myopathies by phosphorus magnetic resonance spectroscopy

  1985cited by this paper
• Mitochondrial myopathies

  1985cited by this paper
• Maternally inherited mitochondrial myopathy and myoclonic epilepsy

  1985cited by this paper
• Variability of serial CT scans in subacute necrotizing encephalomyelopathy (Leigh disease).

  1985cited by this paper
• Holes in the Brain

  1985cited by this paper
• Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2‐oxoglutarate in muscle and liver

  1985cited by this paper
• Holes in the brain.

  1985cited by this paper
• Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy

  1984cited by this paper
• Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

  1984cited by this paper
• Cortical subacute necrotizing encephalomyelopathy. A study of two patients with mitochondrial dysfunction.

  1984cited by this paper
• Lesions of the putamen and dystonia

  1984cited by this paper
• Adult form of Leigh's disease: a clinico pathological case with CT scan examination.

  1984cited by this paper
• NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin.

  1983cited by this paper
• Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency.

  1983cited by this paper
• Two siblings with cytochrome c oxidase deficiency.

  1983cited by this paper
• Normal activities of hepatic pyruvate dehydrogenase and pyruvate carboxylase in Leigh's syndrome.

  1983cited by this paper
• Mitochondrial inheritance in a mitochondrially mediated disease.

  1983cited by this paper
• Enzymologic Studies and Therapy of Leigh's Disease Associated with Pyruvate Decarboxylase Deficiency

  1982cited by this paper
• Hypertrophic cardiomyopathy is a component of subacute necrotizing encephalomyelopathy.

  1982cited by this paper
• Mitochondrial cytopathy or Leigh's syndrome? Mitochondrial abnormalities in Spongiform encephalopathies.

  1982cited by this paper
• Putaminal lesions in Leigh disease

  1982cited by this paper
• Reply

  1982cited by this paper
• Abnormal activation of private dehydrogenase in Leigh disease fibroblasts

  1982cited by this paper
• Pyruvate decarboxylase deficiency in a patient with Leigh's encephalomyelopathy.

  1982cited by this paper
• STUDIES ON PYRUVATE CARBOXYLASE, PYRUVATE DECARBOXYLASE AND LIPOAMIDE DEHYDROGENASE IN SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY

  1982cited by this paper
• A pure parkinsonian syndrome following acute carbon monoxide intoxication.

  1982cited by this paper
• [Juvenile type of subacute necrotizing encephalomyelinopathy (Leigh) with unusual CNS-localisation].

  1981cited by this paper
• A Patient with Pyruvate Carboxylase Deficiency in the Liver: Treatment with Aspartic Acid and Thiamine

  1981cited by this paper
• Pyruvate carboxylase deficiency: an alleged biochemical cause of Leigh's disease.

  1981cited by this paper
• Ultrastructure of a cerebral white matter lesion in a 41-year-old man with Leigh's encephalomyelopathy (LEM).

  1981cited by this paper
• [Involvement of the optical system and ocular muscle nuclear in subacute necrotizing encephalomyelopathy (Leigh) from a pathomorphological point of view (author's transl)].

  1981cited by this paper
• Wilson's disease. An analysis of the cranial computerized tomographic appearances found in 60 patients and the changes in response to treatment with chelating agents.

  1981cited by this paper
• Pigmentary macular degeneration with multifocal necrotizing encephalopathy.

  1981cited by this paper
• Brainstem auditory evoked response in the diagnosis of pediatric neurologic diseases

  1981cited by this paper
• Pyruvate decarboxylase deficiency in subacute necrotizing encephalomyelopathy.

  1981cited by this paper
• Computerized tomography in subacute necrotizing encephalomyelopathy (Leigh disease)

  1981cited by this paper
• Maternal inheritance of human mitochondrial DNA.

  1980cited by this paper
• Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature.

  1980cited by this paper
• beta-Blockers, autoimmunity, and rashes.

  1980cited by this paper
• Hyper-endorphin syndrome in a child with necrotizing encephalomyelopathy.

  1980cited by this paper
• Adult form of subactute necrotizing encephalomyelopathy.

  1979cited by this paper
• Leigh's disease with decreased activities of pyruvate carboxylase and pyruvate decarboxylase

  1979cited by this paper
• Adult form of subactute necrotizing encephalomyelopathy.

  1979cited by this paper
• Disorders of pyruvate metabolism

  1979cited by this paper
• A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity.

  1979cited by this paper
• Rapidly Fatal Subacute Necrotizing Encephalomyelopathy (Leigh's Syndrome) in a Five-Year-Old Boy

  1979cited by this paper
• Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (leigh disease)

  1979cited by this paper
• Pyruvate Carboxylase and Phosphoenolpyruvate Carboxykinase Activity in Leukocytes and Fibroblasts from a Patient with Pyruvate Carboxylase Deficiency

  1979cited by this paper
• Familial subacute necrotizing encephalomyelopathy of the adult form (adult Leigh syndrome)

  1979cited by this paper
• Leigh's disease in an adult with evidence of “inhibitor factor” in family members

  1978cited by this paper
• Motor nerve conduction velocities in Leigh's encephalomyelopathy.

  1978cited by this paper
• MYELIN STUDIES IN A CASE OF SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY (SNE).: CLINICAL, HISTOCHEMICAL, AND NEUROCHEMICAL INVESTIGATIONS

  1978cited by this paper
• Subacute necrotizing encephalopathy (Leigh) in an adult.

  1978cited by this paper
• Complex acid-base disorders in subacute necrotizing encephalomyelopathy (Leigh's syndrome).

  1978cited by this paper
• Report of a Patient with Severe, Chronic Lactic Acidaemia and Pyruvate Carboxylase Deficiency

  1977cited by this paper
• Ophthalmoplegia and Ondine's curse.

  1977cited by this paper
• Subacute necrotizing encephalomyelopathy in a neonatal infant.

  1977cited by this paper
• Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue.

  1977cited by this paper
• Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects in oxidative metabolism.

  1977cited by this paper
• Subacute necrotizing encephalomyelopathy (Leigh's disease): clinical and genetic considerations of its adult form.

  1977cited by this paper
• FURTHER OBSERVATIONS ON SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN ADULTS

  1977cited by this paper
• [Eye symptoms in the subacute necrotizing encephalomyelopathy (author's transl)].

  1976cited by this paper
• Sensitivity to Carbohydrate in a Patient with Familial Intermittent Lactic Acidosis and Pyruvate Dehydrogenase Deficiency

  1976cited by this paper
• Subacute necrotizing encephalopathy (Leigh's disease): two unusual cases.

  1976cited by this paper
• Ketonic diet in the management of pyruvate dehydrogenase deficiency.

  1976cited by this paper
• Thiamine triphosphate levels and histopathology. Correlation in Leigh disease.

  1976cited by this paper
• Letter: Biochemical abnormalities in Leigh's disease.

  1976cited by this paper
• Subacute necrotizing encephalopathy (Leigh's disease): two unusual cases.

  1976cited by this paper
• Peripheral Neuropathy in Leigh's Encephalomyelopathy

  1975cited by this paper
• The cortical form of subacute necrotizing encephalopathy of the Leigh type. A light- and electron-microscopic study.

  1975cited by this paper
• Efficacy of Recommended Therapeutic Regimens in Leigh's Disease

  1974cited by this paper
• Specificity of the urine inhibitor test for Leigh's disease

  1974cited by this paper
• “Ragged‐red” fibers in Leigh's disease

  1974cited by this paper
• Letter: Leigh's disease and failure of automatic respiration.

  1974cited by this paper
• Subacute Necrotising Encephalomyelopathy in Three Siblings

  1974cited by this paper
• Subacute necrotizing encephalomyelopathy. Rapidly fatal course of Leigh disease in a 5-year-old child.

  1974cited by this paper
• Letter: Corticosteroids in Landry-Guillain-Barré-Strohl syndrome.

  1974cited by this paper
• Relapsing form of subacute necrotizing encephalomyelopathy.

  1973cited by this paper
• Metabolism of ketone bodies by the brain.

  1973cited by this paper
• Leigh's syndrome

  1973cited by this paper
• [Subacute necrotizing encephalomyelopathy in identical twins. Pathogenetic and therapeutic aspects].

  1973cited by this paper
• Renal Function Studies and Kidney Pyruvate Garboxylase in Subacute Necrotizing Encephalomyelopathy (Leigh's Syndrome)

  1973cited by this paper
• Relapsing Form of Subacute Necrotizing Encephalomyelopathy

  1973cited by this paper
• Further speculation on the pathogenesis of Leigh's encephalomyelopathy.

  1973cited by this paper
• Failure to thrive, retardation, and other neurologic signs in a fraternal twin.

  1972cited by this paper
• [Clinical and pathological description of Gayet-Wernicke encephalopathy and the adult form of Leigh's encephalopathy].

  1972cited by this paper
• Thiamine-responsive lactice acidosis in a patient with deficient low-KM pyruvate carboxylase activity in liver.

  1972cited by this paper

• Remimazolam-based anesthesia with intraoperative motor evoked potential monitoring in a patient with Leigh syndrome undergoing scoliosis surgery: a case report.

  2026cites this paper
• Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders

  2024cites this paper
• Activated microglia and neuroinflammation as a pathogenic mechanism in Leigh syndrome

  2023cites this paper
• Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders

  2022cites this paper
• Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy

  2021cites this paper
• Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

  2020cites this paper
• Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome

  2020cites this paper
• Metformin delays neurological symptom onset in a mouse model of neuronal complex I deficiency

  2020cites this paper
• Predictors of ccf-mtDNA reactivity to acute psychological stress identified using machine learning classifiers: A proof-of-concept.

  2019cites this paper
• A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications.

  2019cites this paper
• Acute psychological stress increases serum circulating cell-free mitochondrial DNA.

  2019cites this paper
• Adult Presentation of Subacute Necrotizing Encephalomyelopathy in Two Siblings

  2019cites this paper
• Acute Psychological Stress Triggers Circulating Cell-Free Mitochondrial DNA

  2018cites this paper
• Rapamycin enhances survival in a Drosophila model of mitochondrial disease

  2016cites this paper
• Mitochondrial Actions of Thyroid Hormone.

  2016cites this paper
• Case Report : Leigh ’ s Syndrome ( Subacute Necrotising Encephalomyelopathy ) : A Case Report

  2016cites this paper
• Leigh syndrome: One disorder, more than 75 monogenic causes

  2016cites this paper
• Clinical and Biochemical Diagnosis in Children with Leigh Syndrome

  2016cites this paper
• CASE REPORT OF LEIGH SYNDROME – A RARE MITOCHONDRIAL DISORDER

  2015cites this paper
• Leigh Syndrome: Neuropathology and Pathogenesis

  2015influential citation
• Ubiquinol-10 ameliorates mitochondrial encephalopathy associated with CoQ deficiency.

  2014cites this paper
• Investigation into the effects and mechanisms of rapamycin treatment in two mouse models of Complex I-deficient neurological pathology

  2014cites this paper
• Ubiquinol-10 amelioratesmitochondrial encephalopathy associatedwith CoQ de fi ciency

  2014cites this paper
• A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

  2014cites this paper
• Novel Mitochondrial C15620A Variant may Modulate the Phenotype of Mitochondrial G11778A Mutation in a Chinese Family with Leigh Syndrome

  2013cites this paper
• mTOR Inhibition Alleviates Mitochondrial Disease in a Mouse Model of Leigh Syndrome

  2013cites this paper
• SRI LANKA JOURNAL OF NEUROLOGY

  2012cites this paper
• A rare mitochondrial disorder: Leigh sydrome - a case report

  2010cites this paper
• Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case

  2010cites this paper
• Effect of thyroid hormone on mitochondrial properties and oxidative stress in cells from patients with mtDNA defects.

  2009cites this paper
• Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.

  2009cites this paper
• Case 28-2008

  2009cites this paper
• Case records of the Massachusetts General Hospital. Case 28-2008. An 8-day-old infant with congenital deafness, lethargy, and hypothermia.

  2008cites this paper
• Genetic causes of mitochondrial complex I deficiency in children

  2006cites this paper
• Maternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 Mutation

  2006cites this paper
• Síndrome de Leigh con déficit de los complejos I, III y IV de la cadena respiratoria mitocondrial

  2005cites this paper
• Outpatient anesthesia for oral surgery in a juvenile with Leigh disease.

  2005cites this paper
• [Leigh Disease due to deficiency of mitochondrial respiratory chain complexes I, III and IV].

  2005cites this paper
• Unusual Clinical Presentations in Four Cases of Leigh Disease, Cytochrome C Oxidase Deficiency, and SURF1 Gene Mutations

  2005cites this paper
• Leigh′s disease (subacute necrotising encephalo-myelopathy)-a case report

  2005cites this paper
• Subacute necrotizing encephalomyelopathy (Leigh disease): CT and MRI appearances

  2005cites this paper
• Self-inflicted orodental injury in a child with Leigh disease.

  2004cites this paper
• Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

  2004cites this paper
• Response characteristics of the mitochondrial DNA genome in developmental health and disease.

  2004cites this paper
• Anesthesia for corrective spinal surgery in a patient with Leigh's disease.

  2003cites this paper
• Mitochondrial Dysfunction and the Gastrointestinal System

  2002cites this paper
• Leigh’s Disease in 3 Sibs of a Kuwaiti Family

  2002cites this paper
• Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency

  2001cites this paper
• Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal Syndrome

  2001cites this paper
• Leigh Disease: Clinical, Neuroradiologic, and Biochemical Study of Three New Cases With Cytochrome c Oxidase Deficiency

  2001cites this paper
• Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.

  2001cites this paper
• Bicarbonate–Lactate Peritoneal Dialysis in a Patient with a Mitochondriopathy

  2001cites this paper
• Genetic defects causing mitochondrial respiratory chain disorders and disease.

  2000cites this paper
• Alaskan Husky encephalopathy – a canine neurodegenerative disorder resembling subacute necrotizing encephalomyelopathy (Leigh syndrome)

  2000cites this paper
• Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.

  2000cites this paper
• Vocal cord paralysis and hypoventilation in a patient with suspected Leigh disease.

  1999cites this paper
• Subacute necrotising encephalopathy in an Alaskan husky.

  1999cites this paper
• SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

  1998cites this paper
• Hereditary polioencephalomyelopathy of the Australian Cattle Dog

  1997cites this paper
• Anaesthetic management of a patient with Leigh’s syndrome

  1997cites this paper
• Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.

  1997cites this paper
• Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency

  1997cites this paper
• The treatment of congenital lactic acidoses

  1996cites this paper
• Respiratory Chain Encephalomyopathies: A Diagnostic Classification

  1996cites this paper
• Mitochondrial NADH-coenzyme Q reductase deficiency in Leigh's disease.

  1996cites this paper
• Leigh syndrome: Clinical features and biochemical and DNA abnormalities

  1996cites this paper
• Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism

  1996cites this paper
• Magnetic resonance imaging in lactic acidosis

  1996cites this paper
• Antemortem diagnosis of Leigh’s disease: Role of magnetic resonance studies

  1996cites this paper
• Spongiöse Dystrophien und mitochondriale Enzephalopathien

  1995cites this paper
• Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients.

  1995cites this paper
• Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis

  1995cites this paper
• Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants.

  1995cites this paper
• SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY (LEIGH'S DISEASE): REPLY

  1994cites this paper
• Genetic disorders that masquerade as multiple sclerosis.

  1994cites this paper
• Isolated capillary proliferation in Leigh's syndrome.

  1994cites this paper
• Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications

  1994cites this paper
• [Sulfite oxidase deficiency presenting as Leigh syndrome].

  1994cites this paper
• PROTON SPECTROSCOPY IN FIVE PATIENTS WITH LEIGH'S DISEASE AND MITOCHONDRIAL ENZYME DEFICIENCY

  1993cites this paper
• Human leukocyte antigens in Fisher's syundrome

  1993cites this paper
• Invecchiamento cerebrale e patologia neurodegenerativa

  1993cites this paper
• Infant onset subacute necrotizing encephalomyelopathy (Leigh's disease)

  1993cites this paper
• Molecular genetic characterization of an X‐linked form of Leigh's syndrome

  1993cites this paper
• Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

  1993cites this paper
• A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

  1993cites this paper
• Diagnosis and treatment in a case of juvenile subacute necrotizing encephalopathy Leigh without cytochrome c oxidase deficiency.

  1992cites this paper
• Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.

  1992cites this paper
• Assessment and therapy monitoring of Leigh disease by MRI and proton spectroscopy.

  1992cites this paper
• Case records of the Massachusetts General Hospital. Case 30-1992. Progressive neurodegenerative disease in a young boy.

  1992cites this paper
• Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency

  1992cites this paper
• The use of chorionic villi in prenatal diagnosis of mitochondriopathies

  1992cites this paper
• Leigh Syndrome Associated with a Deficiency of the Pyruvate Dehydrogenase Complex: Results of Treatment with a Ketogenic Diet

  1992cites this paper
• Seesaw nystagmus and ocular tilt reaction due to adult Leigh's disease

  1992cites this paper
• Case 30-1992

  1992cites this paper
• Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.

  1992cites this paper
• [Familial spastic spinal paralysis--clinical spectrum and differential diagnostic considerations].

  1991cites this paper
• MELAS Syndrome - Report of Two Patients, and Comparison with Data of 24 Patients Derived from the Literature*

  1991cites this paper
• Epilepsy in mitochondrial encephalomyopathies.

  1991cites this paper
• Neuropathologic findings after bone marrow transplantation: an autopsy study.

  1990cites this paper
• Acute Respiratory Failure Precipitated by General Anesthesia in Leigh's Syndrome

  1990cites this paper