"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation

Folia Neuropathologica

Volumn 51, Issue 4, 2013, Pages 347-354

  Buda, Piotr ^a   Piekutowska Abramczuk, Dorota ^a   Karkuciñska Wiȩckowska, Agnieszka ^a   Jurkiewicz, Elzbieta ^a   Chełstowska, Sylwia ^a   Pajdowska, Magdalena ^a   Migdał, Marek ^a   Ksia̧zyk, Janusz ^a   Kotulska, Katarzyna ^a   Pronicka, Ewa ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Ketogenic diet; Leigh syndrome; MERRF mutation; Pyruvate dehydrogenase dysfunction

Indexed keywords

CARNITINE; DNA; THIAMINE; UBIQUINONE;

ADOLESCENT; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CEREBROVASCULAR ACCIDENT; DIPLOPIA; DNA DETERMINATION; DROP ATTACK; DYSLEXIA; DYSPHAGIA; DYSPNEA; ENCEPHALOMYELITIS; FECES INCONTINENCE; GENE MUTATION; HISTOCHEMISTRY; HOME CARE; HUMAN; HUMAN TISSUE; KETOGENIC DIET; LEIGH DISEASE; LIMB WEAKNESS; MALE; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; RESPIRATORY FAILURE; SEIZURE; STOMACH TUBE; WESTERN BLOTTING;

ADOLESCENT; DNA, MITOCHONDRIAL; FATAL OUTCOME; HUMANS; LEIGH DISEASE; MALE; MUTATION; SYNCOPE;

EID: 84891772221     PISSN: 16414640     EISSN: 1509572X     Source Type: Journal    
DOI: 10.5114/fn.2013.39726     Document Type: Article

References (19)

1. Chinnery PF, Howell N, Lightowelers RN, Turnbull DM. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997; 120: 1713-1721.
2. Erol I, Alehan F, Horvath R, Schneiderat P, Talim B. Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys. Neuromuscul Disord 2009; 19: 275-278.
3. Horvath R, Kley RA, Lochmüller H, Vorgerd M. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology 2007; 68: 56-58.
4. Koene S, Smeitink J. Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction. J Inherit Metab Dis 2011; 34: 315-325.
5. Molnar MJ, Perenyi J, Siska E, Nemeth G, Nagy Z. The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders. J Neurol 2009; 256: 264-265.
6. Piekutowska-Abramczuk D, Popowska E, Pronicki M, Karczmarewicz E, Tylek-Lemanska D, Sykut-Cegielska J, Szymanska-Dembinska T, Bielecka L, Krajewska-Walasek M, Pronicka E. High prevalence of SURF1 c.845-846delCT mutation in Polish Leigh patients. Eur J Pediatr Neurol 2009; 13: 145-153.
7. Piekutowska-Abramczuk D. The molecular background of Leigh syndrome. Neurol Neurochir Pol 2008; 42: 238-250.
8. Pronicka E, Weglewska-Jurkiewicz A, Pronicki M, Sykut-Cegielska J, Kowalski P, Pajdowska M, Jankowska I, Kotulska K, Kalicinski P, Jakobkiewicz-Banecka J, Wegrzyn G. Drug-resistant epilepsy and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene. Med Sci Monit 2011; 17: 203-209.
9. Pronicka E, Piekutowska-Abramczuk D, Popowska E, Pronicki M, Karczmarewicz E, Sykut-Cegielska J, Taybert J. Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF-1 gene mutations as a cause of low serum bicarbonates. J Inherit Metab Dis 2001; 24: 707-714.
10. Pronicki M, Sykut-Cegielska J, Matyja E, Musialowicz J, Karczmarewicz E, Tonska K, Piechota J, Piekutowska-Abramczuk D, Kowalski P, Bartnik E. G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child. Folia Neuropathol 2007; 45: 187-191.
11. Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996; 39: 343-351.
12. Remes AM, Karpa M, Rusanen H, Majamaa K. Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibers (MERRF) syndrome. J Neurol Neurosurg Psychiatry 2003; 74: 1157-1161.
13. Shapira AHV. Mitochondrial disease. Lancet 2006; 368: 70-82.
14. Silvestri G, Ciafoloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro. Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology 1993; 43: 1200-1206.
15. Swiderska N, Appleton R, Morris A, Isherwood D, Selby A. A novel presentation of inappropriate antidiuretic hormone secretion in Leigh syndrome with the myoclonic epilepsy and ragged red fibers, mitochondrial DNA 8344A>G mutation. J Child Neurol 2010; 25: 782-785.
16. Tsao CY, Herman G, Boué DR, Prior TW, Lo WD, Atkin JF, Rusin J. Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review. J Child Neurol 2003; 18: 62-64.
17. Wexler ID, Hemalatha SG, McConnell J, Buist NR, Dahl HH, Berry SA, Cederbaum SD, Patel MS, Kerr DS. Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations. Neurology 1997; 49: 1655-1661.
18. Wilichowski E, Korenke GC, Ruitenbeek W, De Meirleir L, Hagendorff A, Janssen AJ, Lissens W, Hanefeld F. Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. J Neurol Sci 1998; 157: 206-213.
19. Wu SB, Ma YS, Wu YT, Chen YC, Wei YH. Mitochondrial DNA mutation - elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome. Mol Neurobiol 2010; 41: 256-266.