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POLG myoclonus

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https://www.readbyqxmd.com/read/30167885/spectrum-of-movement-disorders-and-neurotransmitter-abnormalities-in-paediatric-polg-disease
#1
A Papandreou, S Rahman, C Fratter, J Ng, E Meyer, L J Carr, M Champion, A Clarke, P Gissen, C Hemingway, N Hussain, S Jayawant, M D King, B J Lynch, L Mewasingh, J Patel, P Prabhakar, V Neergheen, S Pope, S J R Heales, J Poulton, Manju A Kurian
OBJECTIVES: To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG disease. METHODS: We identified children with genetically confirmed POLG disease, in whom CSF neurotransmitter analysis had been undertaken. Clinical data were collected retrospectively. CSF neurotransmitter levels were compared to both standardised age-related reference ranges and to non-POLG patients presenting with status epilepticus...
August 30, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27618766/myoclonus-epilepsy-in-mitochondrial-disorders
#2
REVIEW
Costanza Lamperti, Massimo Zeviani
Mitochondrial disorders is a group of clinical entities associated with abnormalities of the mitochondrial respiratory chain (MRC), which carries out the oxidative phosphorylation (OXPHOS) of ADP into ATP. As the MRC is the result of genetic complementation between two separate genomes, nuclear and mitochondrial, OXPHOS failure can derive from mutations in either nuclear-encoded, or mitochondrial-encoded, genes. Epilepsy is a relatively common feature of mitochondrial disease, especially in early-onset encephalopathies of infants and children...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27554452/epilepsy-due-to-mutations-in-the-mitochondrial-polymerase-gamma-polg-gene-a-clinical-and-molecular-genetic-review
#3
REVIEW
Maria-Eleni Anagnostou, Yi Shiau Ng, Robert W Taylor, Robert McFarland
We performed a systematic review of the clinical, molecular, and biochemical features of polymerase gamma (POLG)-related epilepsy and current evidence on seizure management. Patients were identified from a combined electronic search of articles using Ovid Medline and Scopus databases, published from January 2000 to January 2015. Only patients with a confirmed genetic diagnosis of POLG mutations were considered. Seventy-two articles were included for analysis. We identified 128 pathogenic variants in 372 patients who had POLG-related epilepsy...
October 2016: Epilepsia
https://www.readbyqxmd.com/read/24331360/mitochondrial-dysfunction-in-migraine
#4
William R Yorns, H Huntley Hardison
Migraine is the most frequent type of headache in children. In the 1980s, scientists first hypothesized a connection between migraine and mitochondrial (mt) disorders. More recent studies have suggested that at least some subtypes of migraine may be related to a mt defect. Different types of evidence support a relationship between mitochondria (mt) and migraine: (1) Biochemical evidence: Abnormal mt function translates into high intracellular penetration of Ca(2+), excessive production of free radicals, and deficient oxidative phosphorylation, which ultimately causes energy failure in neurons and astrocytes, thus triggering migraine mechanisms, including spreading depression...
September 2013: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/23462481/monogenic-parkinson-s-disease-and-parkinsonism-clinical-phenotypes-and-frequencies-of-known-mutations
#5
REVIEW
Andreas Puschmann
Mutations in seven genes are robustly associated with autosomal dominant (SNCA, LRRK2, EIF4G1, VPS35) or recessive (parkin/PARK2, PINK1, DJ1/PARK7) Parkinson's disease (PD) or parkinsonism. Changes in a long list of additional genes have been suggested as causes for parkinsonism or PD, including genes for hereditary ataxias (ATXN2, ATXN3, FMR1), frontotemporal dementia (C9ORF72, GRN, MAPT, TARDBP), DYT5 (GCH1, TH, SPR), and others (ATP13A2, CSF1R, DNAJC6, FBXO, GIGYF2, HTRA2, PLA2G6, POLG, SPG11, UCHL1). This review summarizes the clinical features of diseases caused by mutations in these genes, and their frequencies...
April 2013: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/22946726/mitochondrial-diseases-and-epilepsy
#6
REVIEW
Laurence A Bindoff, Bernt A Engelsen
The mitochondrial respiratory chain is the final common pathway for energy production. Defects affecting this pathway can give rise to disease that presents at any age and affects any tissue. However, irrespective of genetic defect, epilepsy is common and there is a significant risk of status epilepticus. This review summarizes our current understanding of the epilepsy that occurs in mitochondrial disease, focusing on three of the most common disorders: mitochondrial myopathy encephalopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonus epilepsy and ragged-red fibers (MERRF), and polymerase gamma (POLG) related disease...
September 2012: Epilepsia
https://www.readbyqxmd.com/read/22528963/characterizing-polg-ataxia-clinics-electrophysiology-and-imaging
#7
Matthis Synofzik, Karin Srulijes, Jana Godau, Daniela Berg, Ludger Schöls
Mutations in the mitochondrial DNA polymerase gamma (POLG) cause a highly pleomorphic disease spectrum, and reports about their frequencies in ataxia populations yield equivocal results. This leads to uncertainties about the role of POLG genetics in the workup of patients with unexplained ataxia. A comprehensive characterization of POLG-associated ataxia (POLG-A) will help guide genetic diagnostics and advance our understanding of the disease processes underlying POLG-A. Thirteen patients with POLG-A were assessed by standardized clinical investigation, nerve conduction studies, motor-evoked potentials, magnetic resonance imaging (MRI) and transcranial sonography (TCS)...
December 2012: Cerebellum
https://www.readbyqxmd.com/read/22283595/mitochondrial-disease-and-epilepsy
#8
REVIEW
Shamima Rahman
Mitochondrial respiratory chain disorders are relatively common inborn errors of energy metabolism, with a combined prevalence of one in 5000. These disorders typically affect tissues with high energy requirements, and cerebral involvement occurs frequently in childhood, often manifesting in seizures. Mitochondrial diseases are genetically heterogeneous; to date, mutations have been reported in all 37 mitochondrially encoded genes and more than 80 nuclear genes. The major genetic causes of mitochondrial epilepsy are mitochondrial DNA mutations (including those typically associated with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS] and myoclonic epilepsy with ragged red fibres [MERRF] syndromes); mutations in POLG (classically associated with Alpers syndrome but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], spinocerebellar ataxia with epilepsy [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q(10) biosynthesis; and disorders of mitochondrial translation such as RARS2 mutations...
May 2012: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/18546365/molecular-and-clinical-genetics-of-mitochondrial-diseases-due-to-polg-mutations
#9
Lee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, Qing Zhang, Eric S Schmitt, Cavatina Truong, Margherita Milone, Bruce H Cohen, Beverly Wical, Jaya Ganesh, Alice A Basinger, Barbara K Burton, Kathryn Swoboda, Donald L Gilbert, Adeline Vanderver, Russell P Saneto, Bruno Maranda, Georgianne Arnold, Jose E Abdenur, Paula J Waters, William C Copeland
Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults. They are responsible for a heterogeneous group of at least 6 major phenotypes of neurodegenerative disease that include: 1) childhood Myocerebrohepatopathy Spectrum disorders (MCHS), 2) Alpers syndrome, 3) Ataxia Neuropathy Spectrum (ANS) disorders, 4) Myoclonus Epilepsy Myopathy Sensory Ataxia (MEMSA), 5) autosomal recessive Progressive External Ophthalmoplegia (arPEO), and 6) autosomal dominant Progressive External Ophthalmoplegia (adPEO)...
September 2008: Human Mutation
https://www.readbyqxmd.com/read/16638794/the-spectrum-of-clinical-disease-caused-by-the-a467t-and-w748s-polg-mutations-a-study-of-26-cases
#10
MULTICENTER STUDY
Charalampos Tzoulis, Bernt A Engelsen, Wenche Telstad, Jan Aasly, Massimo Zeviani, Synnøve Winterthun, Gianfrancesco Ferrari, Jan H Aarseth, Laurence A Bindoff
We studied 26 patients belonging to 20 families with a disorder caused by mutations in the POLG gene. The patients were homozygous for 1399 G/A or 2243 G/C (giving the amino acid changes A467T and W748S, respectively) or compound heterozygotes for these two mutations. Irrespective of genotype, the patients exhibited a progressive neurological disorder usually starting in their teens and characterized by epilepsy, headache, ataxia, neuropathy, myoclonus and late onset ophthalmoplegia. However, major differences in survival were seen depending on genotype, with compound heterozygotes having a significantly shorter survival time than patients homozygous either for the A467T or W748S (P = 0...
July 2006: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/15824347/autosomal-recessive-mitochondrial-ataxic-syndrome-due-to-mitochondrial-polymerase-gamma-mutations
#11
S Winterthun, G Ferrari, L He, R W Taylor, M Zeviani, D M Turnbull, B A Engelsen, G Moen, L A Bindoff
OBJECTIVE: To investigate three families and one sporadic case with a recessively inherited ataxic syndrome. METHODS: Clinical and genetic studies were performed in six individuals. Southern blotting and real time PCR were used to detect deletions of mtDNA and mutations in the POLG gene were identified using a combination of DHPLC and direct DNA sequencing. RESULTS: The patients have a distinctive, progressive disorder that starts with episodic symptoms such as migraine-like headache or epilepsy...
April 12, 2005: Neurology
https://www.readbyqxmd.com/read/15477547/polg-mutations-in-neurodegenerative-disorders-with-ataxia-but-no-muscle-involvement
#12
G Van Goethem, P Luoma, M Rantamäki, A Al Memar, S Kaakkola, P Hackman, R Krahe, A Löfgren, J J Martin, P De Jonghe, A Suomalainen, B Udd, C Van Broeckhoven
OBJECTIVE: To identify POLG mutations in patients with sensory ataxia and CNS features. METHODS: The authors characterized clinical, laboratory, and molecular genetic features in eight patients from five European families. The authors conducted sequencing of coding exons of POLG, C10orf2 (Twinkle), and ANT1 and analyzed muscle mitochondrial DNA (mtDNA), including Southern blot analysis and long-range PCR. RESULTS: Ataxia occurred in combination with various CNS features, including myoclonus, epilepsy, cognitive decline, nystagmus, dysarthria, thalamic and cerebellar white matter lesions on MRI, and neuronal loss in discrete gray nuclei on autopsy...
October 12, 2004: Neurology
https://www.readbyqxmd.com/read/14694057/patient-homozygous-for-a-recessive-polg-mutation-presents-with-features-of-merrf
#13
G Van Goethem, R Mercelis, A Löfgren, S Seneca, C Ceuterick, J J Martin, C Van Broeckhoven
Both dominant and recessive missense mutations were recently reported in the gene encoding the mitochondrial DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO). The authors report on a patient homozygous for a recessive missense mutation in POLG who presented with a multisystem disorder without PEO. The most prominent features were myoclonus, seizure, and sensory ataxic neuropathy, so the clinical picture overlapped with the syndrome of myoclonus, epilepsy, and ragged red fibers (MERRF)...
December 23, 2003: Neurology
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