Predominant Cerebellar Volume Loss as a Neuroradiologic Feature of Pediatric Respiratory Chain Defects

References

1. ↵
   Munnich A, Rustin P, Rötig A, et al. Clinical aspects of mitochondrial disorders. J Inherit Metab Dis 1992;15:448–455

   CrossRefPubMedWeb of Science
2. ↵
   Smeitink J, van den Heuvel L, DiMauro S. The genetics and pathology of oxidative phosphorylation. Nat Rev Genet 2001;2:342–352

   CrossRefPubMedWeb of Science
3. ↵
   De Vivo DC. The expanding clinical spectrum of mitochondrial diseases. Brain Dev 1993;15:1–22

   CrossRefPubMedWeb of Science
4. ↵
   Valanne L, Ketonen L, Majander A, et al. Neuroradiologic findings in children with mitochondrial disorders. AJNR Am J Neuroradiol 1998;19:369–377

   Abstract
5. ↵
   DiMauro S, Bonilla E, De Vivo DC. Does the patient have a mitochondrial encephalomyopathy? J Child Neurol 1999;14:S23–S35
6. ↵
   Bernier FP, Boneh A, Dennett X, et al. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 2002;59:1406–1411

   Abstract/FREE Full Text
7. ↵
   Scaglia F, Towbin JA, Craigen WJ, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004;114:925–931

   Abstract/FREE Full Text
8. ↵
   Lindner A, Hofmann E, Naumann M, et al. Clinical, morphological, biochemical, and neuroadiological features of mitochondrial encephalomyopathies: presentation of 19 patients. Mol Cell Biochem 1997;174:297–303

   CrossRefPubMedWeb of Science
9. ↵
   Van der Knapp M, Valk J. Magnetic resonance in mitochondrial disorders. Euromit 6; Nijmegen, the Netherlands, July2004
10. ↵
    King TE, Howard RL. Preparation and properties of NADH dehydrogenase from cardiac muscle. In: Estabrook R, Pullman M, eds. Methods in enzymology: oxidation and phosphorylation. New York: Academic Press;1967 :275–294
11. King TE. Preparation of succinate dehydrogenase and reconstitution of succinate oxidase. In: Estabrook R, Pullman M, eds. Methods in enzymology: oxidation and phosphorylation. New York: Academic Press;1967 :322–331
12. Yonetan T. Cytochrome oxidase: beef heart. In Estabrook R, Pullman M, eds. Methods in enzymology: oxidation and phosphorylation. New York: Academic Press;1967 :332–335
13. ↵
    Srere PA. Citrate synthase. In Lowenstein J, ed. Methods in enzymology: oxidation and phosphorylation. New York: Academic Press;1969 :3–11
14. ↵
    Laaksonen R, Riihimaki A, Laitila J, et al. Serum and muscle tissue ubiquinone levels in healthy subjects. J Lab Clin Med 1995;125:517–521

    PubMedWeb of Science
15. ↵
    Rousseau G, Varin F. Determination of ubiquinone-9 and 10 levels in rat tissues and blood by high-performance liquid chromatography with ultraviolet detection. J Chromatogr Sci 1998;36:247–252

    Abstract/FREE Full Text
16. ↵
    Liang MH, Wong L-JC. Yield of mtDNA mutation analysis in 2000 patients. Am J Med Genet 1998;77:385–400
17. ↵
    Wong L-JC, Senadheera D. Direct detection of multiple point mutations in mitochondrial DNA. Clin Chem 1997;43:1857–1861

    Abstract/FREE Full Text
18. ↵
    Szigeti K, Wong L-JC, Perng C-L, et al. MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. J Med Genet 2004;41:125–129

    Abstract/FREE Full Text
19. ↵
    Shoffner JM. Maternal inheritance and the evaluation of oxidative phosphorylation diseases. Lancet 1996;348:1283–1288

    CrossRefPubMedWeb of Science
20. ↵
    Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689–692

    Abstract/FREE Full Text
21. ↵
    Hirano M, Nishigaki Y, Marti R. MNGIE: a disease of two genomes. Neurologist 2004;10:8–17

    CrossRefPubMedWeb of Science
22. ↵
    Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994;44:721–727

    Abstract/FREE Full Text
23. ↵
    Pavlakis S, Phillips P, DiMauro S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol 1984;16:481–488

    CrossRefPubMedWeb of Science
24. ↵
    Goto Y, Nonaka I, Horai S. A mutation in the tRNA Leu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651–653

    CrossRefPubMedWeb of Science
25. ↵
    Sue CM, Crimmins DS, Soo YS, et al. Neuroradiological features of six kindreds with MELAS tRNA^Leu A3243G point mutation: implications for pathogenesis. J Neurol Neurosurg Psychiatry 1998;65:233–240

    Abstract/FREE Full Text
26. ↵
    Dahl HH. Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome. Am J Hum Genet 1998;63:1594–1597

    CrossRefPubMedWeb of Science
27. ↵
    Zeviani M, Carelli V. Mitochondrial disorders. Curr Opin Neurol 2003;16:585–594

    CrossRefPubMedWeb of Science
28. ↵
    Cacic M, Willichowski E, Mejaski-Bosnjak V, et al. Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome. J Child Neurol 2001;16:616–619

    PubMed
29. ↵
    Bakker HD, van den Bogert C, Drewes JG, et al. Progressive generalized brain atrophy and infantile spasms associated with cytochrome c oxidase deficiency. J Inher Metab Dis 1996;19:153–156

    PubMed
30. ↵
    Lamperti C, Naini A, Hirano M, et al. Cerebellar ataxia and coenzyme Q₁₀ deficiency. Neurology 2003;60:1206–1208

    Abstract/FREE Full Text
31. ↵
    Naini A, Lewis V, Hirano M, DiMauro S. Primary coenzyme Q₁₀ deficiency and the brain. Biofactors 2003;18:145–152

    PubMedWeb of Science
32. ↵
    Lincke CR, van den Bogert C, Nitjmans LGJ, et al. Cerebellar hypoplasia in respiratory chain dysfunction. Neuropediatrics 1996;27:216–218

    PubMedWeb of Science
33. ↵
    De Koning TJ, de Vries LS, Groenendaal F, et al. Pontocerebellar hypoplasia associated with respiratory-chain defects. Neuropediatrics 1998;30:93–95

    Web of Science
34. ↵
    Larsell O, Jansen J. The comparative anatomy and histology of the cerebellum. Minneapolis: Lund Press;1972