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Journal articles on the topic 'Leigh disease'

Author: Grafiati

Published: 4 June 2021

Last updated: 9 February 2022

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1

Taccone, Agostino, Maia Di Rocco, Paola Fondelli, and Franco Cottafava. "Leigh Disease." Journal of Computer Assisted Tomography 13, no. 2 (March 1989): 207–10. http://dx.doi.org/10.1097/00004728-198903000-00003.

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2

Coker, Steven B., and Chinnamma Thomas. "Connatal Leigh Disease." Clinical Pediatrics 34, no. 7 (July 1995): 349–52. http://dx.doi.org/10.1177/000992289503400702.

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3

Pronicka, Ewa. "Hypocapnic hypothesis of Leigh disease." Medical Hypotheses 101 (April 2017): 23–27. http://dx.doi.org/10.1016/j.mehy.2017.01.016.

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4

Geyer, Carl A., K. J. Sartor, A. J. Prensky, C. L. Abramson, F. J. Hodges, and M. H. Gado. "Leigh Disease (Subacute Necrotizing Encephalomyelopathy)." Journal of Computer Assisted Tomography 12, no. 1 (January 1988): 40–44. http://dx.doi.org/10.1097/00004728-198801000-00006.

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5

Malojcic, Branko, Vesna Brinar, Charles Poser, and Visnja Djakovic. "An adult case of Leigh disease." Clinical Neurology and Neurosurgery 106, no. 3 (June 2004): 237–40. http://dx.doi.org/10.1016/j.clineuro.2004.02.028.

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6

Debray, François-Guillaume, Marie Lambert, Pierre Allard, and Grant A. Mitchell. "Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome." Journal of Child Neurology 25, no. 8 (May 14, 2010): 1000–1002. http://dx.doi.org/10.1177/0883073809351983.

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7

Wang, Mei, Ya-Ping Huang, Han Wu, Ke Song, Cong Wan, A.-Ni Chi, Ya-Mei Xiao, and Xiao-Yang Zhao. "Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice." PeerJ 5 (May 18, 2017): e3339. http://dx.doi.org/10.7717/peerj.3339.

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Background The NDUFS4 gene encodes an 18-kD subunit of mitochondria complex I, and mutations in this gene lead to the development of a severe neurodegenerative disease called Leigh syndrome (LS) in humans. To investigate the disease phenotypes and molecular mechanisms of Leigh syndrome, the Ndufs4 knockout (KO) mouse has been widely used as a novel animal model. Because the homozygotes cannot survive beyond child-bearing age, whether Ndufs4 and mitochondrial complex I influence early embryonic development remains unknown. In our study, we attempted to investigate embryonic development in Ndufs4 KO mice, which can be regarded as a Leigh disease model and were created through the CRISPR (clustered regularly interspaced short palindromic repeat) and Cas9 (CRISPR associated)-mediated genome editing system. Methods We first designed a single guide RNA (sgRNA) targeting exon 2 of Ndufs4 to delete the NDUFS4 protein in mouse embryos to mimic Leigh syndrome. Then, we described the phenotypes of our mouse model by forced swimming and the open-field test as well as by assessing other behavioral characteristics. Intracytoplasmic sperm injection (ICSI) was performed to obtain KO embryos to test the influence of NDUFS4 deletion on early embryonic development. Results In this study, we first generated Ndufs4 KO mice with physical and behavioral phenotypes similar to Leigh syndrome using the CRISPR/Cas9 system. The low developmental rate of KO embryos that were derived from knockout gametes indicated that the absence of NDUFS4 impaired the development of preimplantation embryos. Discussion In this paper, we first obtained Ndufs4 KO mice that could mimic Leigh syndrome using the CRISPR/Cas9 system. Then, we identified the role of NDUFS4 in early embryonic development, shedding light on its roles in the respiratory chain and fertility. Our model provides a useful tool with which to investigate the function of Ndufs4. Although the pathological mechanisms of the disease need to be discovered, it helps to understand the pathogenesis of NDUFS4 deficiency in mice and its effects on human diseases.

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8

Ng, Yi Shiau, Ming Lim, Gareth Thomas, and Robert McFarland. "Teaching NeuroImages: Neuroradiologic evolution of Leigh disease." Neurology 87, no. 14 (October 3, 2016): e159-e160. http://dx.doi.org/10.1212/wnl.0000000000003182.

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9

Sonam, Kothari, P. S. Bindu, Narayanappa Gayathri, Nahid Akhtar Khan, C. Govindaraju, Hanumanthapura R. Arvinda, Madhu Nagappa, Sanjib Sinha, K. Thangaraj, and Arun B. Taly. "The “Double Panda” Sign in Leigh Disease." Journal of Child Neurology 29, no. 7 (April 18, 2013): 980–82. http://dx.doi.org/10.1177/0883073813484968.

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10

Paltiel, H. J., A. M. O'Gorman, K. Meagher-Villemure, B. Rosenblatt, K. Silver, and G. V. Watters. "Subacute necrotizing encephalomyelopathy (Leigh disease): CT study." Radiology 162, no. 1 (January 1987): 115–18. http://dx.doi.org/10.1148/radiology.162.1.3786750.

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11

Sakushima, Ken, Sachiko Tsuji-Akimoto, Masaaki Niino, Shinji Saitoh, Ichiro Yabe, and Hidenao Sasaki. "Adult Leigh Disease Without Failure to Thrive." Neurologist 17, no. 4 (July 2011): 222–27. http://dx.doi.org/10.1097/nrl.0b013e318217357a.

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12

Leigh, P. N., S. Al-Sarraj, and S. DiMauro. "Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome)." Journal of Neurology, Neurosurgery & Psychiatry 86, no. 4 (January 13, 2015): 363–65. http://dx.doi.org/10.1136/jnnp-2012-304601.

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13

Ulualp, Seckin O., Charles G. Wright, Karen Pawlowski, and Peter S. Roland. "Cochlear Degeneration in Leigh Disease: Histopathologic Features." Laryngoscope 114, no. 12 (December 2004): 2239–42. http://dx.doi.org/10.1097/01.mlg.0000149465.80703.8e.

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14

Coker, Steven B. "Leigh disease presenting as Guillain-Barré syndrome." Pediatric Neurology 9, no. 1 (January 1993): 61–63. http://dx.doi.org/10.1016/0887-8994(93)90013-3.

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15

Danis, Daniel, Katarina Brennerova, Martina Skopkova, Timea Kurdiova, Jozef Ukropec, Juraj Stanik, Miriam Kolnikova, and Daniela Gasperikova. "Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients." Endocrine Regulations 52, no. 2 (April 1, 2018): 110–18. http://dx.doi.org/10.2478/enr-2018-0013.

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AbstractObjectives. Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings. At molecular level, deficiency of respiratory complexes and/or pyruvate dehydrogenase complex is usually observed. Nuclear gene SURF1 encodes an assembly factor for cytochrome c-oxidase complex of the respiratory chain and autosomal recessive mutations in SURF1 are one of the most frequent causes of cytochrome c-oxidase-related Leigh syndrome cases. Here, we aimed to elucidate the genetic basis of Leigh syndrome in three Slovak families.Methods and results. Three probands presenting with Leigh syndrome were selected for DNA analysis. The first proband, presenting with atypical LS onset without abnormal basal ganglia magnetic resonance imaging findings, was analyzed with whole exome sequencing. In the two remaining probands, SURF1 was screened by Sanger sequencing. Four different heterozygous mutations were identified in SURF1: c.312_321delinsAT:p.(Pro104Profs*1), c.588+1G>A, c.823_833+7del:p. (?) and c.845_846del:p.(Ser282Cysfs*9). All the mutations are predicted to have a loss-of-function effect.Conclusions. We identified disease-causing mutations in all three probands, which points to the important role of SURF1 gene in etiology of Leigh syndrome in Slovakia. Our data showed that patients with atypical Leigh syndrome phenotype without lesions in basal ganglia may benefit from the whole exome sequencing method. In the case of probands presenting the typical phenotype, Sanger sequencing of the SURF1 gene seems to be an effective method of DNA analysis.

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16

Bitto, Alessandro. "IS AGING AN ACQUIRED MITOCHONDRIAL DISEASE?" Innovation in Aging 3, Supplement_1 (November 2019): S394—S395. http://dx.doi.org/10.1093/geroni/igz038.1458.

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Abstract Mitochondrial dysfunction is a hallmark of aging, but severe mitochondrial dysfunction leads to rare childhood disorders such as Leigh Syndrome. This session explores the similarities and differences between normative aging and mitochondrial disease and the potential for interventions to positively impact both conditions.

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17

Jabeen, ShaikAfshan, G. Sandeep, KandadaiRukmini Mridula, AngamuttuKanikannan Meena, Rupam Borgohain, and Challa Sundaram. "Adult-onset Leigh′s disease: A rare entity." Annals of Indian Academy of Neurology 19, no. 1 (2016): 140. http://dx.doi.org/10.4103/0972-2327.175437.

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18

Waldron, Tony. "Edgar Leigh Collis: Industrial lung disease and ergonomics." Journal of Medical Biography 28, no. 3 (October 20, 2017): 157–62. http://dx.doi.org/10.1177/0967772017735716.

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Edgar Collis was appointed as the second Medical Inspector of Factories in 1908, holding the post until the outbreak of the First World War when he became Medical Director of the Ministry of Munitions. After the war, he was appointed to the chair in public health in the University of Wales. He held this post while living in Lossiemouth in Scotland, some 570 miles distant. His research interests were in industrial lung disease, industrial hygiene, and the health of coal miners. He made important contributions to the first and third subjects, but was a less significant figure in the field of industrial hygiene. Among his achievements were the recognition of the relationship between silicosis and tuberculosis, the harmful effects of non-silicaceous coal dust, and the need to fit the worker to the job, and the job to the worker.

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19

Ohama, Eisaku, Fusahiro Ikuta, and Nishio Nakamura. "Mitochondrial abnormalities in choroid plexus of leigh disease." Brain and Development 10, no. 1 (January 1988): 30–35. http://dx.doi.org/10.1016/s0387-7604(88)80042-1.

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20

Szymanska-Debinska, Tamara, Agnieszka Karkucinska-Wieckowska, Dorota Piekutowska-Abramczuk, Elżbieta Jurkiewicz, Katarzyna Iwanicka-Pronicka, Dariusz Rokicki, and Maciej Pronicki. "Leigh disease due toSCO2mutations revealed at extended autopsy." Journal of Clinical Pathology 68, no. 5 (February 26, 2015): 397–99. http://dx.doi.org/10.1136/jclinpath-2014-202606.

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21

Hoefs, Saskia J. G., Cindy E. J. Dieteren, Felix Distelmaier, Rolf J. R. J. Janssen, Andrea Epplen, Herman G. P. Swarts, Marleen Forkink, et al. "NDUFA2 Complex I Mutation Leads to Leigh Disease." American Journal of Human Genetics 82, no. 6 (June 2008): 1306–15. http://dx.doi.org/10.1016/j.ajhg.2008.05.007.

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22

Yamagata, Takanori, Sadayuki Yano, Ichiro Okabe, Masutomo Miyao, Mariko Y. Momoi, Masayoshi Yanagisawa, Hiroko Hirata, and Kou Komatsu. "Ultrasonography and magnetic resonance imaging in Leigh disease." Pediatric Neurology 6, no. 5 (September 1990): 326–29. http://dx.doi.org/10.1016/0887-8994(90)90025-v.

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23

Sofou, Kalliopi, Irenaeus F. M. de Coo, Elsebet Ostergaard, Pirjo Isohanni, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, et al. "Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients." Journal of Medical Genetics 55, no. 1 (November 3, 2017): 21–27. http://dx.doi.org/10.1136/jmedgenet-2017-104891.

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BackgroundLeigh syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder. While some genetic defects are associated with well-described phenotypes, phenotype-genotype correlations in Leigh syndrome are not fully explored.ObjectiveWe aimed to identify phenotype-genotype correlations in Leigh syndrome in a large cohort of systematically evaluated patients.MethodsWe studied 96 patients with genetically confirmed Leigh syndrome diagnosed and followed in eight European centres specialising in mitochondrial diseases.ResultsWe found that ataxia, ophthalmoplegia and cardiomyopathy were more prevalent among patients with mitochondrial DNA defects. Patients with mutations in MT-ND and NDUF genes with complex I deficiency shared common phenotypic features, such as early development of central nervous system disease, followed by high occurrence of cardiac and ocular manifestations. The cerebral cortex was affected in patients with NDUF mutations significantly more often than the rest of the cohort. Patients with the m.8993T>G mutation in MT-ATP6 gene had more severe clinical and radiological manifestations and poorer disease outcome compared with patients with the m.8993T>C mutation.ConclusionOur study provides new insights into phenotype-genotype correlations in Leigh syndrome and particularly in patients with complex I deficiency and with defects in the mitochondrial ATP synthase.

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Kundu, Gopen Kumar, Amina Akhter, Shaheen Akhter, and Md Mizanur Rhaman. "Leigh syndrome: A rare mitochondrial disorder." Bangabandhu Sheikh Mujib Medical University Journal 9, no. 2 (August 18, 2016): 126. http://dx.doi.org/10.3329/bsmmuj.v9i2.28889.

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<p>Leigh syndrome is a rare, mitochondrial disorder of childhood . In most cases dysfunction of the respiratory chain enzymes is responsible for the disease. Raised lactate levels in blood and/or cerebrospinal fluid is noted. Magnetic resonance imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the appropriate diagnosis. Here, we report a case of progressive neurologic disorders presenting with motor and intellectual regression which on MRI was diagnosed as Leigh syndrome.</p>

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25

Bugiardini, Enrico, Simon Pope, René G. Feichtinger, Olivia V. Poole, Alan M. Pittman, Cathy E. Woodward, Simon Heales, et al. "Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases." Journal of Clinical Medicine 8, no. 7 (July 8, 2019): 991. http://dx.doi.org/10.3390/jcm8070991.

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TPK1 mutations are a rare, but potentially treatable, cause of thiamine deficiency. Diagnosis is challenging given the phenotypic overlap that exists with other metabolic and neurological disorders. We report a case of TPK1-related disease presenting with Leigh-like syndrome and review the diagnostic utility of thiamine pyrophosphate (TPP) blood measurement. The proband, a 35-year-old male, presented at four months of age with recurrent episodes of post-infectious encephalopathy. He subsequently developed epilepsy, learning difficulties, sensorineural hearing loss, spasticity, and dysphagia. There was a positive family history for Leigh syndrome in an older brother. Plasma lactate was elevated (3.51 mmol/L) and brain MRI showed bilateral basal ganglia hyperintensities, indicative of Leigh syndrome. Histochemical and spectrophotometric analysis of mitochondrial respiratory chain complexes I, II+III, and IV was normal. Genetic analysis of muscle mitochondrial DNA was negative. Whole exome sequencing of the proband confirmed compound heterozygous variants in TPK1: c. 426G>C (p. Leu142Phe) and c. 258+1G>A (p.?). Blood TPP levels were reduced, providing functional evidence for the deleterious effects of the variants. We highlight the clinical and bioinformatics challenges to diagnosing rare genetic disorders and the continued utility, despite major advances in DNA sequencing technology, of biochemical analyses when investigating novel, potentially disease-causing, genetic variants. Blood TPP measurement represents a fast and cost-effective diagnostic tool in TPK1-related diseases.

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26

Campolina-Sampaio, Gabriela Palhares, Laura Maria de Lima Belizário Facury Lasmar, Beatriz Silva Vilela Ribeiro, and Juliana Gurgel-Giannetti. "The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil." Arquivos de Neuro-Psiquiatria 74, no. 11 (November 2016): 909–13. http://dx.doi.org/10.1590/0004-282x20160137.

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ABSTRACT Objective The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil. Methods The scale was applied in 20 pediatric patients with mitochondrial disease, in three groups: myopathy (n = 4); Leigh syndrome (n = 8); and encephalomyopathy (n = 8). Scores were obtained for the various dimensions of the NPMDS, and comparisons were drawn between the groups. Results There was a statistically significant difference between the myopathy group and the Leigh syndrome group (p = 0.0085), as well as between the myopathy and encephalomyopathy groups (p = 0.01). Conclusions The translation of the NPMDS, and its adaptation to the socioeconomic and cultural conditions in Brazil, make the NPMDS score useful as an additional parameter in the evaluation and monitoring of pediatric patients with MD in Brazil.

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27

Itkis⁎, Yulia S., Galina E. Rudenskaya, Polina G. Tsygankova, Ekaterina Y. Zakharova, and Svetlana V. Mikhailova. "Mitochondrial DNA mutations in cases of Leigh-like disease." Mitochondrion 11, no. 4 (July 2011): 647. http://dx.doi.org/10.1016/j.mito.2011.03.040.

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28

Rahman, J., A. Noronha, I. Thiele, and S. Rahman. "Leigh Map: a novel diagnostic resource for mitochondrial disease." Neuromuscular Disorders 27 (March 2017): S19. http://dx.doi.org/10.1016/s0960-8966(17)30274-2.

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29

Araki, Satoshi, Masaharu Hayashi, Atsushi Yasaka, and Kiyo Maruki. "Electrophysiological brainstem dysfunction in a child with Leigh disease." Pediatric Neurology 16, no. 4 (May 1997): 329–33. http://dx.doi.org/10.1016/s0887-8994(97)00020-9.

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30

Surana, P., S. Patni, and B. Hargitai. "G383 Perinatal leigh disease masquerading as hypoxic ischaemic encephalopathy." Archives of Disease in Childhood 101, Suppl 1 (April 2016): A222.2—A223. http://dx.doi.org/10.1136/archdischild-2016-310863.373.

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31

Laird, Philip W., Brian G. Mohney, and Deborah L. Renaud. "Bull’s-Eye Maculopathy in an Infant With Leigh Disease." American Journal of Ophthalmology 142, no. 1 (July 2006): 186–87. http://dx.doi.org/10.1016/j.ajo.2006.02.051.

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32

Greenberg, S. B., E. N. Faerber, J. J. Riviello, G. de Leon, and M. A. Capitanio. "Subacute necrotizing encephalomyelopathy (Leigh disease): CT and MRI appearances." Pediatric Radiology 21, no. 1 (December 1990): 5–8. http://dx.doi.org/10.1007/bf02010803.

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33

de Haas, Ria, Frans G. Russel, and Jan A. Smeitink. "Gait analysis in a mouse model resembling Leigh disease." Behavioural Brain Research 296 (January 2016): 191–98. http://dx.doi.org/10.1016/j.bbr.2015.09.006.

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34

Vogel, Hannes. "Burden of Proof in the Postmortem Diagnosis of Mitochondrial Disease: Leigh Disease." Pediatric and Developmental Pathology 7, no. 6 (November 2004): 615–19. http://dx.doi.org/10.1007/s10024-004-5054-1.

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35

Hombal, AG, and VN Narvekar. "Leigh′s disease (subacute necrotising encephalo-myelopathy)-a case report." Indian Journal of Radiology and Imaging 15, no. 2 (2005): 217. http://dx.doi.org/10.4103/0971-3026.28806.

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36

Diab, M. "Self-inflicted orodental injury in a child with Leigh disease." International Journal of Paediatric Dentistry 14, no. 1 (January 2004): 73–77. http://dx.doi.org/10.1111/j.1365-263x.2004.00472.x.

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37

Terkawi, AbdullahSulieman, KhalidM Al-Shuaibi, TariqM Wani, and JosephD Tobias. "Anesthetic considerations in Leigh disease: Case report and literature review." Saudi Journal of Anaesthesia 6, no. 2 (2012): 181. http://dx.doi.org/10.4103/1658-354x.97037.

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38

Rahman, Joyeeta, Alberto Noronha, Ines Thiele, and Shamima Rahman. "Leigh map: A novel computational diagnostic resource for mitochondrial disease." Annals of Neurology 81, no. 1 (January 2017): 9–16. http://dx.doi.org/10.1002/ana.24835.

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39

Wasniewska, Magdalena, Elzbieta Karczmarewicz, Maciej Pronicki, Dorota Piekutowska-Abramczuk, Krzysztof Zabłocki, Ewa Popowska, Ewa Pronicka, and Jerzy Duszyński. "Abnormal Calcium Homeostasis in Fibroblasts from Patients with Leigh Disease." Biochemical and Biophysical Research Communications 283, no. 3 (May 2001): 687–93. http://dx.doi.org/10.1006/bbrc.2001.4834.

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40

Taylor, Robert W., Andrew AM Morris, Michael Hutchinson, and Douglass M. Turnbull. "Leigh disease associated with a novel mitochondrial DNA ND5 mutation." European Journal of Human Genetics 10, no. 2 (February 2002): 141–44. http://dx.doi.org/10.1038/sj.ejhg.5200773.

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41

Stendel, Claudia, Christiane Neuhofer, Elisa Floride, Shi Yuqing, Rebecca D. Ganetzky, Joohyun Park, Peter Freisinger, et al. "Delineating MT-ATP6-associated disease." Neurology Genetics 6, no. 1 (January 13, 2020): e393. http://dx.doi.org/10.1212/nxg.0000000000000393.

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ObjectiveTo delineate the phenotypic and genotypic spectrum in carriers of mitochondrial MT-ATP6 mutations in a large international cohort.MethodsWe analyzed in detail the clinical, genetical, and neuroimaging data from 132 mutation carriers from national registries and local databases from Europe, USA, Japan, and China.ResultsWe identified 113 clinically affected and 19 asymptomatic individuals with a known pathogenic MT-ATP6 mutation. The most frequent mutations were m.8993 T > G (53/132, 40%), m.8993 T > C (30/132, 23%), m.9176 T > C (30/132, 23%), and m.9185 T > C (12/132, 9%). The degree of heteroplasmy was high both in affected (mean 95%, range 20%–100%) and unaffected individuals (mean 73%, range 20%–100%). Age at onset ranged from prenatal to the age of 75 years, but almost half of the patients (49/103, 48%) became symptomatic before their first birthday. In 28 deceased patients, the median age of death was 14 months. The most frequent symptoms were ataxia (81%), cognitive dysfunction (49%), neuropathy (48%), seizures (37%), and retinopathy (14%). A diagnosis of Leigh syndrome was made in 55% of patients, whereas the classic syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP) was rare (8%).ConclusionsIn this currently largest series of patients with mitochondrial MT-ATP6 mutations, the phenotypic spectrum ranged from asymptomatic to early onset multisystemic neurodegeneration. The degree of mutation heteroplasmy did not reliably predict disease severity. Leigh syndrome was found in more than half of the patients, whereas classic NARP syndrome was rare. Oligosymptomatic presentations were rather frequent in adult-onset patients, indicating the need to include MT-ATP6 mutations in the differential diagnosis of both ataxias and neuropathies.

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Speer, Rebecca R., Uzoamaka C. Ezeanya, Sarah J. Beaudoin, Kristen M. Glass, and Christiana N. Oji-Mmuo. "Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome." Journal of Pediatric Genetics 09, no. 02 (October 24, 2019): 137–41. http://dx.doi.org/10.1055/s-0039-1700519.

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AbstractMucolipidosis II α/beta (MLII) is an autosomal recessive disease in which a gene mutation leads to improper targeting of lysosomal enzymes with an end result of accumulation of lysosomes in the mitochondria resulting in a dysfunctional mitochondria.1 Leigh syndrome (LS) is a rare progressive neurodegenerative disorder associated with dysfunctional mitochondria and oxidative phosphorylation.4 Both disease processes typically present in infancy.3 7 Herein, we present a case of an infant diagnosed with both mucolipidosis II and Leigh syndrome. Genetic analysis in this case revealed two mutations (NDUFA12 c.178C > T p.Arg60* and GNPTAB c.732_733delAA) on the long arm of chromosome 12 as the etiology of MLII and LS in this neonate, respectively. We are unaware of any previously published cases of the presence of these two diseases occurring in the same patient. The complex clinical presentation of this case led to a delay in the diagnosis, and we believe that the clinical phenotypes of these two conditions were likely worsened. The genetic alterations presented in this case occurred as a result of mutations on chromosome 12. We suggest further investigation into the potential overlap in the pathophysiology, specifically the inheritance pattern, linkage disequilibrium, mitochondrial–lysosomal interaction, or crosstalk contributing to both diseases.

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Bitto, Alessandro, Anthony Grillo, and Matt Kaeberlein. "Acarbose suppresses symptoms of mitochondrial disease in a mouse model of Leigh Syndrome." Innovation in Aging 4, Supplement_1 (December 1, 2020): 886. http://dx.doi.org/10.1093/geroni/igaa057.3271.

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Abstract Mitochondrial diseases are pathologies characterized by impairment in mitochondrial function. Mitochondrial dysfunction is also a hallmark of the aging process. Rapamycin, a drug that increases lifespan and reduces the incidence of age-related pathologies in multiple models, increases survival and reduces the impact of neurological symptoms in a mouse model lacking the complex I subunit Ndufs4. Here we show that acarbose, another drug that extends lifespan in mice, suppresses symptoms of disease and improves survival of Ndufs4-/- mice. Unlike rapamycin, acarbose rescues disease phenotypes independently of mTOR inhibition. Furthermore, rapamycin and acarbose have additive effects on clasping and maximum lifespan in Ndufs4-/- mice. Acarbose rescues mitochondrial disease independently of glycolytic flux and Sirt3 activity by potentially remodeling the microbiome. This study provides the first evidence that the microbiome may rescue severe mitochondrial disease and proof of principle that biological aging and mitochondrial disorders are driven by common mechanisms.

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44

Ellis, Zachary, and Charles Bloomer. "Outpatient Anesthesia for Oral Surgery in a Juvenile With Leigh Disease." Anesthesia Progress 52, no. 2 (June 2005): 70–73. http://dx.doi.org/10.2344/0003-3006(2005)52[70:oafosi]2.0.co;2.

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45

Baker, P. R., M. Friederich, C. Rice, L. J. Wong, and J. Van Hove⁎. "ND3 Mutation 10191T>C causes rapidly progressive infantile Leigh disease." Mitochondrion 11, no. 4 (July 2011): 669–70. http://dx.doi.org/10.1016/j.mito.2011.03.099.

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46

Jiang, Yu-Wu, Jiong Qin, Yun Yuan, Yu Qi, and Xi-Ru Wu. "Neuropathologic and Clinical Features in Eight Chinese Patients With Leigh Disease." Journal of Child Neurology 17, no. 6 (June 2002): 450–52. http://dx.doi.org/10.1177/088307380201700611.

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47

Acer, H., M. Canpolat, G. K. Özçora, and S. Kumandaş. "A familial case of Leigh Disease related to NDUFV1 homozygous mutations." European Journal of Paediatric Neurology 21 (June 2017): e133-e134. http://dx.doi.org/10.1016/j.ejpn.2017.04.1031.

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Koch, Thomas K., Warren D. Lo, and Bruce O. Berg. "Variability of serial CT scans in subacute necrotizing encephalomyelopathy (leigh disease)." Pediatric Neurology 1, no. 1 (January 1985): 48–51. http://dx.doi.org/10.1016/0887-8994(85)90009-8.

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Craigen, William J. "Leigh disease with deficiency of lipoamide dehydrogenase: Treatment failure with dichloroacetate." Pediatric Neurology 14, no. 1 (January 1996): 69–71. http://dx.doi.org/10.1016/0887-8994(96)00005-7.

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Khailany, Rozhgar A., Naser Gilani, Mehmet Ozaslan, Muhamad Safdar, Ihsan Al-Shamari, Belan O. Kanabe, Khandakar A. S. M. Saadat, et al. "Association of a point mutation (m.9176T>G) of the MT-ATP6 gene with Leigh syndrome: A case report." Biomedical Research and Therapy 7, no. 5 (May 25, 2020): 3739–43. http://dx.doi.org/10.15419/bmrat.v7i5.601.

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Abstract:

Leigh Syndrome (LS) is an uncommon progressive neurodegenerative mitochondrial disorder. The condition is characterized by progressive mental and developmental disabilities (psychomotor regression) and commonly brings about death within a few years of diagnosis, more often due to respiratory failure. In a small number of patients the disorder does not manifest until adulthood. The principal indications of Leigh syndrome found in early stages typically are diarrhea, vomiting, and difficulty swallowing (dysphagia), which disturbs eating. These problems usually result in powerlessness to develop and put on weight under the normal rate (failure to thrive). Serious movement and muscle problems are basic in Leigh syndrome. In this case report, we introduce the molecular and clinical features of a 19-year-old female as proband, and also, we study other members of the family consequently. The m.9176T>G heteroplasmic mutation in the MT-ATP6 gene was detected by high-resolution melt (HRM) and DNA sequencing techniques. Similarly, the m.9176T>G was heteroplasmic in the mother. In conclusion, this report in compliance with previous studies underlines the necessity of further research on prenatal distinguishing proof of the responsible mutations and avoidance of the disease in families with known cases.

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