Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course

Journal of the Neurological Sciences

Volumn 278, Issue 1-2, 2009, Pages 132-134

  Sobreira, Cláudia ^a   Marques Jr , Wilson ^a   Pontes Neto, Octávio M ^a   Santos, Antônio Carlos ^a   Pina Neto, João M ^a   Barreira, Amilton A ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Ataxia and retinitis pigmentosa (NARP); Maternally inherited Leigh syndrome (MILS); Mitochondria; Mitochondrial ATPase; Mitochondrial diseases; Mitochondrial DNA; Muscle pathology; Myopathy; Neurogenic weakness; Respiratory chain; T8993G mitochondrial DNA mutation

Indexed keywords

ADENOSINE TRIPHOSPHATASE; GLYCINE; MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME; THREONINE;

ADULT; ARTICLE; ATAXIA; ATPASE 6 GENE; BLOOD LEVEL; BRAIN ATROPHY; BRAIN DAMAGE; CASE REPORT; CEREBELLUM ATROPHY; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; DEMYELINATING DISEASE; DISEASE ASSOCIATION; DISEASE COURSE; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; FUNNEL CHEST; GENE MUTATION; HUMAN; KYPHOSIS; LEIGH LIKE SYNDROME; LONG TERM CARE; MALE; MITOCHONDRIAL ENCEPHALOPATHY; MITOCHONDRIAL GENE; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCLE HYPERTONIA; MUSCLE HYPERTROPHY; MUSCLE WEAKNESS; NEUROIMAGING; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PARIETAL LOBE; PERIPHERAL NEUROPATHY; POLYNEUROPATHY; PRIORITY JOURNAL; PTOSIS; PUTAMEN; RETINITIS PIGMENTOSA; SKELETAL MUSCLE; SKELETON MALFORMATION; SYMPTOM; SYNDROME; VISUAL IMPAIRMENT; WHITE MATTER;

ADULT; BLOOD CHEMICAL ANALYSIS; BRAIN; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FOLLOW-UP STUDIES; GENES, MITOCHONDRIAL; HUMANS; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MUSCLE, SKELETAL; MUTATION, MISSENSE; SYNDROME; YOUNG ADULT;

EID: 58749111796     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2008.11.023     Document Type: Article

References (17)

1. Holt I.J., Harding A.E., Petty R.K.H., and Morgan-Hughes J.A. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46 (1990) 428-433
2. Tatuch Y., Christodoulou J., Feigenbaum A., Clarke J.T., Wherret J., Smith C., et al. Heteroplasmic mtDNA mutation (T to G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 50 (1992) 852-858
3. Santorelli F.M., Shanske S., Macaya A., DeVivo D.C., and DiMauro S. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 34 (1993) 827-834
4. Uziel G., Moroni I., Lamantea E., Fratta G.M., Ciceri E., Carrara F., et al. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 63 (1997) 16-22
5. White S.L., Shanske S., McGill J.J., Mountain H., Geraghty M.T., DiMauro S., et al. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue or age-related variation. J Inherit Metab Dis 22 (1999) 899-914
6. Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet 50 (1992) 934-949
7. Rahman S., Blok R.B., Dahl H.H.M., Danks D.M., Kirby D.M., Chow C.W., et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 39 (1996) 343-351
8. Carrozzo R., Tessa A., Vázquez-Memije M.E., Piemonte F., Patrono C., Malandrini A., et al. The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. Neurology 56 (2001) 687-690
9. Nagashima T., Mori M., Katayama K., Nunomura M., Nishihara H., Hiraga H., et al. Adult Leigh syndrome with mitochondrial DNA mutation at 8993. Acta Neuropathol 97 (1999) 416-422
10. Fujii T., Hattori H., Higuchi Y., Tsuji M., and Mitsuyoshi I. Phenotypic differences between T-C and T-G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome. Pediatr Neurol 18 (1998) 275-277
11. Morava E., Rodenburg R.J., Hol F., de Vries M., Janssen A., van den Heuvel L., et al. Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations. Am J Med Genet Part A 140A (2006) 863-868
12. Debray F.G., Lambert M., Lortie A., Vanasse M., and Mitchell G.A. Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation. Am J Med Genet Part A 143A (2007) 2046-2051
13. Chalmers R.M., Lamont P.J., Nelson I., Ellison D.W., Thomas N.H., Harding A.E., et al. A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome. Neurology 49 (1997) 589-592
14. Tiranti V., Corona P., Greco M., Taanman J.W., Carrara F., Lamantea E., et al. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Hum Mol Genet 9 (2000) 2733-2742
15. Goldenberg P.C., Steiner R.D., Merkens L.S., Dunaway T., Egan R.A., Zimmerman E.A., et al. Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency. Neurology 60 (2003) 865-868
16. Finsterer J. Leigh and Leigh-like syndromes in children and adults. Pediatr Neurol 39 (2008) 223-235
17. Enns G.M., Bai R.K., Beck A.E., and Wong L.J. Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load. Mol Genet Metab 88 (2006) 364-371