Progressive cerebral vascular degeneration with mitochondrial encephalopathy

American Journal of Medical Genetics, Part A

Volumn 146, Issue 3, 2008, Pages 361-367

  Longo, Nicola ^a,b   Schrijver, Iris ^c   Vogel, Hannes ^c   Pique, Lynn M ^c   Cowan, Tina M ^c   Pasquali, Marzia ^b   Steinberg, Gary K ^c   Hedlund, Gary L ^d   Ernst, Sharon L ^a   Gallagher, Renata C ^c,e   Enns, Gregory M ^c  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP LABORATORIES   (United States)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d PRIMARY CHILDREN'S MEDICAL CENTER   (United States)

^e UNIVERSITY OF COLORADO   (United States)

Author keywords

Lactic acidosis; MCAD deficiency; MELAS; Metabolic acidosis; Mitochondrial disorder; Mitochondrial encephalopathy; Moyamoya; Vascular disease

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; MITOCHONDRIAL DNA; TRANSFER RNA;

ARTICLE; CASE REPORT; CEREBRAL BLINDNESS; CEREBROVASCULAR DISEASE; DEHYDRATION; DEVELOPMENTAL DISORDER; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; KETONURIA; LACTIC ACIDEMIA; MAGNETIC RESONANCE ANGIOGRAPHY; MELAS SYNDROME; METABOLIC ACIDOSIS; MITOCHONDRIAL ENCEPHALOMYOPATHY; MOYAMOYA DISEASE; MUSCLE BIOPSY; MYOPATHY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD; SHORT STATURE; UNCONSCIOUSNESS; VOMITING;

ACYL-COA DEHYDROGENASE; BRAIN; CEREBROVASCULAR CIRCULATION; CHILD; FEMALE; HUMANS; MAGNETIC RESONANCE ANGIOGRAPHY; MELAS SYNDROME; POINT MUTATION; RNA, TRANSFER, LEU;

EID: 38949197215     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31841     Document Type: Article

References (15)

1. Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N. 2001. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet 68:1408-1418.
2. Betts J, Jaros E, Perry RH, Schaefer AM, Taylor RW, Abdel-All Z, Lightowlers RN, Turnbull DM. 2006. Molecular neuropathology of MELAS: Level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathol Appl Neurobiol 32:359-373.
3. Forster C, Hubner G, Muller-Hocker J, Pongratz D, Baierl P, Senger R, Ruitenbeek W. 1992. Mitochondrial angiopathy in a family with MELAS. Neuropediatrics 23:165-168.
4. Koga Y, Akita Y, Junko N, Yatsuga S, Povalko N, Fukiyama R, Ishii M, Matsuishi T. 2006. Endothelial dysfunction in MELAS improved by 1-arginine supplementation. Neurology 66:1766-1769.
5. Longo N. 2003. Mitochondrial encephalopathy. Neurol Clin 21:817-831.
6. McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF. 2004. Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. Mol Genet Metab 82:112-120.
7. Noguchi A, Shoji Y, Matsumori M, Komatsu K, Takada G. 2005. Stroke-like episode involving a cerebral artery in a patient with MELAS. Pediatr Neurol 33:70-71.
8. Ohama E, Ohara S, Ikuta F, Tanaka K, Nishizawa M, Miyatake T. 1987. Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy. Acta Neuropathol (Berl) 74:226-233.
9. Sakuta R, Nonaka I. 1989. Vascular involvement in mitochondrial myopathy. Ann Neurol 25:594-601.
10. Shaag A, Saada A, Steinberg A, Navon P, Elpeleg ON. 1997. Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T). Biochem Biophys Res Commun 233:637-639.
11. Shoffner JM. 2001. Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. p 2367-2425.
12. Sohm B, Frugier M, Brule H, Olszak K, Przykorska A, Florentz C. 2003. Towards understanding human mitochondrial leucine aminoacylation identity. J Mol Biol 328:995-1010.
13. Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen BS, Wilcken B. 2006. Medium-chain acyl-CoA dehydrogenase deficiency: Genotype-biochemical phenotype correlations. Mol Genet Metab 87:32-39.
14. Wallace DC. 1999. Mitochondrial diseases in man and mouse. Science 283:1482-1488.
15. Wallace DC, Lott MT, Brown MD, Kerstann K. 2001. Mitochondria and neuroophthalmologic diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. p 2425-2512.