Mitochondrial diseases mimicking neurotransmitter defects

Mitochondrion

Volumn 8, Issue 3, 2008, Pages 273-278

  Garcia Cazorla, Angels ^a,b   Duarte, Sofia ^a,b   Serrano, Mercedes ^a,b   Nascimento, Andres ^a,b   Ormazabal, Aida ^a,b   Carrilho, Ines ^c   Briones, Paz ^d   Montoya, Julio ^e   Garesse, Rafael ^f   Sala Castellvi, Pere ^g   Pineda, Mercedes ^a,b   Artuch, Rafael ^a,b  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c HOSPITAL MARIA PIA   (Portugal)

^d Institut de Bioquimica Clinica Barcelona   (Spain)

^e INSTITUTO ARAGONÉS DE CIENCIAS DE LA SALUD   (Spain)

^f INSTITUTO DE INVESTIGACIONES BIOMÉDICAS ALBERTO SOLS   (Spain)

^g HOSPITAL CLÍNIC   (Spain)

Author keywords

Cerebrospinal fluid; Infantile hypokinetic rigid syndrome; l dopa treatment; Mitochondrial disorders; Neurotransmitters

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; BIOGENIC AMINE; CARBIDOPA PLUS LEVODOPA; HOMOVANILLIC ACID; LEVODOPA; NEUROTRANSMITTER; PTERIN;

ARTICLE; CEREBROSPINAL FLUID ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSTONIA; ENZYME ACTIVITY; FEEDING DISORDER; FEMALE; HUMAN; HYPERLACTATEMIA; HYPOKINESIA; INFANT; MALE; MUSCLE HYPERTONIA; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RESPIRATORY CHAIN; TREMOR;

ALANINE; BRAIN; CHILD, PRESCHOOL; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; DOPAMINE AGENTS; DYSTONIA; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX II; ELECTRON TRANSPORT COMPLEX III; FEMALE; HOMOVANILLIC ACID; HUMANS; HYDROXYINDOLEACETIC ACID; INFANT; INFANT, NEWBORN; LACTIC ACID; LEVODOPA; MALE; MITOCHONDRIAL DISEASES; NEUROTRANSMITTER AGENTS; PTERINS; TREATMENT OUTCOME;

EID: 46149085849     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2008.05.001     Document Type: Article

References (26)

1. Bernier F.P., Boneh A., Dennett X., Chow C.W., Cleary M.A., and Thorburn D.R. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59 (2002) 1406-1411
2. Bindokas V.P., Lee C.C., Colmers W.F., and Miller R.J. Changes in mitochondrial function resulting from synaptic activity in the rat hippocampal slice. J. Neurosci. 18 (1998) 4570-4587
3. Casali C., Bonifati V., Santorelli F.M., Casari G., Fortini D., Patrignani A., et al. Mitochondrial myopathy, parkinsonism, and multiple mtDNA delections in a Sephardic Jewish family. Neurology 56 (2001) 802-805
4. Chang D.T., Honick A.S., and Reynolds I.J. Mitochondrial trafficking to synapses in cultured primary cortical neurons. J. Neurosci. 26 (2006) 7035-7045
5. Garcia-Cazorla A., Ormazábal A., Artuch R., Pérez-Dueñas B., López-Casas J., Fernández-Alvarez E., et al. Inborn errors of neurotransmitters in neuropaediatrics. Rev. Neurol. 41 (2005) 99-108
6. García-Cazorla A., Rabier D., Touati G., Chadefaux-Vekemans B., Marsac C., de Lonlay P., et al. Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects. Ann. Neurol. 59 (2006) 121-127
7. García-Cazorla A., Serrano M., Pérez-Dueñas B., González V., Ormazábal A., Pineda M., et al. Secondary abnormalities of neurotransmitters in infants with neurological disorders. Dev. Med. Child Neurol. 49 10 (2007) 740-744
8. Herlenius E., and Lagercrantz H. Neurotransmitters and neuromodulators during early human development. Early Hum. Dev. 65 (2001) 21-37
9. Herlenius E., and Lagercrantz H. Development of neurotransmitter systems during critical periods. Exp. Neurol. 190 (2004) S8-S21
10. Hyland K. Neurochemistry and defects of biogenic amine neurotransmitter metabolism. J. Inherit. Metab. Dis. 22 (1999) 353-363
11. Hyland K., Surtees R., Heales S.J., Bowron A., Howells D.W., and Smith I. Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population. Pediatr. Res. 34 (1993) 10-14
12. Luoma P., Melberg A., Rinne J.O., Kaukonen J.A., Nupponen N.N., Chalmers R.M., et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 364 (2004) 875-882
13. Ly C.V., and Verstreken P. Mitochondria at the synapse. Neuroscientist 12 (2006) 291-299
14. Miller K.E., and Sheetz M.P. Axonal mitochondrial transport and potential are correlated. J. Cell Sci. 117 (2004) 2791-2804
15. Naviaux R.K. Developing a systematic approach to the diagnosis and classification of mitochondrial disease. Mitochondrion 4 (2004) 351-361
16. Ormazábal A., García-Cazorla A., Fernández A., Fernández-Alvarez E., Campistol J., Artuch R., et al. HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterines. J. Neurosci. Methods. 142 (2005) 153-158
17. Parnavelas J.G., and Cavanagh M.E. Transient expression of neurotransmitters in the developing cortex. Trends Neurosci. 11 (1998) 92-93
18. Pearl P.L., Capp P.K., Novotny E.J., and Gibson K.M. Inherited disorders of neurotransmitters in children and adults. Clin. Biochem. 38 (2005) 1051-1058
19. Rustin P., Chretien D., Bourgeron T., Gerard B., Rotig A., Saudubray J.M., et al. Biochemical and molecular investigation in respiratory chain deficiencies. Clin. Chim. Acta 228 (1994) 35-51
20. Siciliano G., Mancuso M., Ceravolo R., Lombardi V., Iudice A., and Bonuccelli U. Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports. J. Neurol. Neurosurg. Psychiatry 71 (2001) 685-687
21. Van Der Heyden J.C., Rotteveel J.J., and Wevers R.A. Decreased homovanillic acid concentrations in cerebrospinal fluid in children without a known defect in dopamine metabolism. Eur. J. Paediatr. Neurol. 7 1 (2003) 31-37
22. Verstreken P., Ly C.V., Venken K.J., et al. Synaptic mitochondria are critical for mobilization of reserve pool vesicles at Drosophila neuromuscular junctions. Neuron 47 (2005) 365-378
23. von Kleist-Retzow J.C., Schauseil-Zipf U., Michalk D.V., and Kunz W.S. Mitochondrial diseases: an expanding spectrum of disorders and affected genes. Exp. Physiol. 88 (2003) 155-166
24. Walker U.A., Collins S., and Byrne E. Respiratory chain encephalomyopathies: a diagnostic classification. Eur. Neurol. 36 (1996) 260-267
25. Wevers A., de Rijk-van Andel J.F., Brautigan C., Wevers R.A., de Rijk-van Andel J.F., et al. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). J. Inher. Metab. Dis. 22 (1999) 364-373
26. Wong-Riley M.T. Cytochrome oxidase, an endogenous metabolic marker for neuronal activity. Trends Neurosci. 12 (1989) 94-101