The neurologic manifestations of mitochondrial disease

Developmental Disabilities Research Reviews

Volumn 16, Issue 2, 2010, Pages 120-128

  Parikh, Sumit ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Alper syndrome; Ataxia; Cerebellar degeneration; Dysmotility; Epilepsia partialis continua epilepsy; Hearing loss; Hypotonia; Leigh syndrome; Mitochondria; Mitochondrial disease; Myopathy; Neurological; Neuropathy; Optic atrophy; Pigmentary retinopathy; POLG; Seizures; Stroke; White matter

Indexed keywords

ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA;

ALPERS DISEASE; ATAXIA; CEREBELLUM DEGENERATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EPILEPTIC STATE; FATIGUE; HEARING LOSS; HUMAN; LEIGH DISEASE; MENTAL DISEASE; MITOCHONDRIAL RESPIRATION; MUSCLE HYPOTONIA; MYOPATHY; NEUROPATHY; OPTIC NERVE ATROPHY; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; RETINOPATHY; REVIEW; STROKE;

EID: 77956253016     PISSN: 19405510     EISSN: 10982779     Source Type: Journal    
DOI: 10.1002/ddrr.110     Document Type: Review

References (76)

1. Arthur TM, Saneto RP, de Menezes MS, et al. 2007. Vagus nerve stimulation in children with mitochondrial electron transport chain deficiencies. Mitochondrion 7:279-283.
2. Benarroch EE. 2010. Adenosine triphosphate: a multifaceted chemical signal in the nervous system. Neurology 74:601-607.
3. Blanco-Barca O, Pintos-Martinez E, Alonso-Martin A, et al. 2004. Mitochondrial encephalomyopathies and West's syndrome: a frequently underdiagnosed association Rev Neurol 39:618-623.
4. Bough K. 2008. Energy metabolism as part of the anticonvulsant mechanism of the ketogenic diet Epilepsia 49(Suppl 8):91-93.
5. Brown GK. 2005. Congenital brain malformations in mitochondrial disease J Inherit Metab Dis 28:393-401.
6. Canafoglia L, Franceschetti S, Antozzi C, et al. 2001. Epileptic phenotypes associated with mitochondrial disorders Neurology 56: 1340-1346.
7. Chen H, Chan DC. 2009. Mitochondrial dynamics- fusion, fission, movement, and mitophagy- in neurodegenerative diseases Hum Mol Genet 18:R169-R176.
8. Chinnery PF, Elliott C, Green GR, et al. 2000. The spectrum of hearing loss due to mitochondrial DNA defects Brain 123:82-92.
9. Chitkara DK, Nurko S, Shoffner JM, et al. 2003. Abnormalities in gastrointestinal motility are associated with diseases of oxidative phosphorylation in children. Am J Gastroenterol 98:871-877.
10. CMG. 2002. Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genetic evaluation of congenital hearing loss expert panel. ACMG statement. Genet Med 4:162-171.
11. Davidzon G, Greene P, Mancuso M, et al. 2006. Early-onset familial parkinsonism due to POLG mutations. Ann Neurol 59:859-862. (Pubitemid 43673164)
12. de Vries MC, Rodenburg RJ, Morava E, et al. 2008. Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. J Inherit Metab Dis. Short Report #108 online.
13. Durham SE, Bonilla E, Samuels DC, et al. 2005. Mitochondrial DNA copy number threshold in mtDNA depletion myopathy. Neurology 65:453-455.
14. Edvardson S, Shaag A, Kolesnikova O, et al. 2007. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet 81:857-862.
15. Elia M, Musumeci SA, Ferri R, et al. 1996. Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua Brain Dev 18:207-211.
16. Engelsen BA, Tzoulis C, Karlsen B, et al. 2008a. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 131:818-828. (Pubitemid 351294723)
17. Engelsen BA, Tzoulis C, Karlsen B, et al. 2008b. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection Brain 131:818-828.
18. Fattal O, Link J, Quinn K, et al. 2007. Psychiatric comorbidity in 36 adults with mitochondrial cytopathies CNS Spectr 12:429-438.
19. Finsterer J. 2009a. Mitochondrial ataxias. Can J Neurol Sci 36:543-553.
20. Finsterer J. 2009b. Mitochondrial disorders, cognitive impairment and dementia J Neurol Sci 283:143-148.
21. Finsterer J, Kopsa W. 2005. Basal Ganglia calcification in mitochondrial disorders Metab Brain Dis 20:219-226.
22. Garcia-Cazorla A, Quadros EV, Nascimento A, et al. 2008. Mitochondrial diseases associated with cerebral folate deficiency Neurology 70:1360-1362.
23. Garcia-Cazorla A, Serrano M, Perez-Duenas B, et al. 2007. Secondary abnormalities of neuro-transmitters in infants with neurological disorders. Dev Med Child Neurol 49: 740-744.
24. Hudson G, Chinnery PF. 2006. Mitochondrial DNA polymerase-gamma and human disease Hum Mol Genet 15:R244-R252.
25. Jin H, May M, Tranebjaerg L, et al. 1996. A novel X-linked gene. DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness Nat Genet 14:177-180.
26. Kartsounis LD, Troung DD, Morgan-Hughes JA, et al. 1992. The neuropsychological features of mitochondrial myopathies and encephalo-myopathies Arch Neurol 49:158-160.
27. Keng WT, Pilz DT, Minns B, et al. 2003. A3243G mitochondrial mutation associated with polymicrogyria Dev Med Child Neurol 45:704-708.
28. Khurana DS, Salganicoff L, Melvin JJ, et al. 2008. Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies. Neuropediatrics 39:8-13.
29. Kotagal S, Peterson PL, Martens ME, et al. 1988. Impaired NADH-CoQ reductase activity in a child with moyamoya syndrome Pediatr Neurol 4:241-244.
30. Kubota M, Sakakihara Y, Mori M, et al. 2004. Beneficial effect of L-arginine for stroke-like episode in MELAS Brain Dev 26:481-483; discussion 480.
31. Lachhwani DK, Parikh S, Gupta A, et al. 2008. Ipsilateral cerebral and cerebellar atrophy with evidence of mitochondrial dysfunction: evolving phenotype in Rasmussen's encephalitis. Epilepsia 49 (Suppl 7):223.
32. Laloi-Michelin M, Meas T, Ambonville C, et al. 2009. The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes J Clin Endocrinol Metab 94: 3025-3030.
33. Leigh D. 1951. Subacute necrotizing encephalo-myelopathy in an infant. J Neurol Neurosurg Psychiatry 14:216-221.
34. Lerman-Sagie T, Leshinsky-Silver E, Watemberg N, et al. 2005. White matter involvement in mitochondrial diseases Mol Genet Metab 84:127-136.
35. Lonnqvist T, Paetau A, Valanne L, et al. 2009a. Recessive twinkle mutations cause severe epileptic encephalopathy Brain 132:1553-1562.
36. Lonnqvist T, Paetau A, Valanne L, et al. 209b. Recessive twinkle mutations cause severe epileptic encephalopathy Brain 132:1553-1562.
37. Lopez LC, Schuelke M, Quinzii CM, et al. 2006. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 79:1125-1129. (Pubitemid 44853484)
38. Mandel H, Szargel R, Labay V, et al. 2001. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 29:337-341.
39. McFarland R, Hudson G, Taylor RW, et al. 2008. Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1). Arch Dis Child 93:151-153.
40. Milone M, Brunetti-Pierri N, Tang LY, et al. 2008. Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord 18:626-632.
41. Mollet J, Giurgea I, Schlemmer D, et al. 2007. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest 117:765-772.
42. Morgan PG, Hoppel CL, Sedensky MM. 2002. Mitochondrial defects and anesthetic sensitivity. Anesthesiology 96:1268-1270.
43. Muravchick S, Levy RJ. 2006. Clinical implications of mitochondrial dysfunction Anesthesiology 105:819-837.
44. Naviaux RK, Nguyen KV. 2004. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion Ann Neurol 55:706-712.
45. Neilson DE, Adams MD, Orr CM, et al. 2009. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore. RANBP2 Am J Hum Genet 84:44-51.
46. Nikali K, Suomalainen A, Saharinen J, et al. 2005. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky Hum Mol Genet 14:2981-2990.
47. Nishino I, Kobayashi O, Goto Y, et al. 1998. A new congenital muscular dystrophy with mitochondrial structural abnormalities. Muscle Nerve 21:40-47. (Pubitemid 28041679)
48. Nye JS, Hayes EA, Amendola M, et al. 2000. Myelocystocele- cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. Teratology 61:165-171.
49. Oskoui M, Davidzon G, Pascual J, et al. 2006. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Arch Neurol 63: 1122-1126.
50. Parikh S, Cohen BH, Gupta A, et al. 2008. Metabolic testing in the pediatric epilepsy unit Pediatr Neurol 38:191-195.
51. Prezant TR, Agapian JV, Bohlman MC, et al. 1993. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness Nat Genet 4:289-294.
52. Ramaekers VT, Weis J, Sequeira JM, et al. 2007. Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency. Neuropediatrics 38:184-187.
53. Rose LV, Rose NT, Elder JE, et al. 2008. Ophthalmologic presentation of oxidative phosphorylation diseases of childhood. Pediatr Neurol 38:395-397.
54. Sadleir LG, Connolly MB, Applegarth D, et al. 2004. Spasms in children with definite and probable mitochondrial disease Eur J Neurol 11:103-110.
55. Salviati L, Sacconi S, Rasalan MM, et al. 2002. Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig- Hoffmann disease. Arch Neurol 59:862-865. (Pubitemid 34517773)
56. Saneto RP, Friedman SD, Shaw DW. 2008. Neuroimaging of mitochondrial disease Mitochondrion 8:396-413.
57. Saneto RP, Lee IC, Koenig MK, et al. 2010. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure 19:140-146.
58. Scheper GC, van der Klok T, van Andel RJ, et al. 2007. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 39: 534-539.
59. Scruggs ER, Dirks Naylor AJ. 2008. Mechanisms of zidovudine-induced mitochondrial toxicity and myopathy. Pharmacology 82:83-88.
60. Sevior KB, Hatamochi A, Stewart IA, et al. 1998. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet 75:179-185.
61. Sinnathuray AR, Raut V, Awa A, et al. 2003. A review of cochlear implantation in mitochondrial sensorineural hearing loss Otol Neurotol 24:418-426.
62. Solano A, Roig M, Vives-Bauza C, et al. 2003. Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene. Ann Neurol 54:527-530.
63. Spinazzola A, Invernizzi F, Carrara F, et al. 2009. Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 32:143-158.
64. Taban M, Cohen BH, David Rothner A, et al. 2006. Association of optic nerve hypoplasia with mitochondrial cytopathies. J Child Neurol 21:956-960. (Pubitemid 46111343)
65. Taivassalo T, Haller RG. 2005. Exercise and training in mitochondrial myopathies. Med Sci Sports Exerc 37:2094-2101.
66. Tarnopolsky MA, Raha S. 2005. Mitochondrial myopathies: diagnosis, exercise intolerance, and treatment options. Med Sci Sports Exerc 37:2086-2093. (Pubitemid 41780735)
67. Toribe Y, Tominaga K, Ogawa K, et al. 2007. Usefulness of L-arginine infusion for status epilepticus in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. No To Hattatsu 39:38-43.
68. Van Goethem G, Schwartz M, Lofgren A, et al. 2003. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet 11: 547-549.
69. Waldbaum S, Patel M. 2009. Mitochondria, oxidative stress, and temporal lobe epilepsy Epilepsy Res 88:23-45.
70. Weissman JR, Kelley RI, Bauman ML, et al. 2008. Mitochondrial disease in autism spectrum disorder patients: a cohort analysis PLoS One 3:e3815.
71. Willis TA, Davidson J, Gray RG, et al. 2000. Cytochrome oxidase deficiency presenting as birth asphyxia. Dev Med Child Neurol 42:414-417. (Pubitemid 30326667)
72. Winterthun S, Ferrari G, He L, et al. 2005. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 64: 1204-1208.
73. Wolf NI, Rahman S, Schmitt B, et al. 2009. Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features Epilepsia 50:1596-1607.
74. Wray SH, Provenzale JM, Johns DR, et al. 1995. MR of the brain in mitochondrial myopathy. AJNR Am J Neuroradiol 16:1167-1173.
75. Yu-Wai-Man P, Griffiths PG, Hudson G, et al. 2009. Inherited mitochondrial optic neuropathies J Med Genet 46:145-158.
76. Zimmer V, Feiden W, Becker G, et al. 2009. Absence of the interstitial cell of Cajal network in mitochondrial neurogastrointestinal encephalomyopathy. Neurogastroenterol Motil 21:627-631.