Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency

Journal of Child Neurology

Volumn 25, Issue 12, 2010, Pages 1457-1461

  Acosta, Maria T ^a,b   Munasinghe, Jeeva ^a   Pearl, Phillip L ^a,b   Gupta, Maneesh ^c   Finegersh, Andrey ^a   Gibson, K Michael ^d   Theodore, William H ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d MICHIGAN TECHNOLOGICAL UNIVERSITY   (United States)

Author keywords

cerebellar atrophy; succinic semialdehyde dehydrogenase deficiency

Indexed keywords

SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN REGION; BRAIN SIZE; CEREBELLUM ATROPHY; CLINICAL ARTICLE; DENTATE NUCLEUS; ENZYME DEFICIENCY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MOUSE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; ANIMALS; ATROPHY; BRAIN DISEASES, METABOLIC, INBORN; CEREBELLAR DISEASES; CHILD; DISEASE MODELS, ANIMAL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICE; MICE, KNOCKOUT; MICE, TRANSGENIC; MIDDLE AGED; RANDOM ALLOCATION; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE; YOUNG ADULT;

EID: 78650213727     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810368137     Document Type: Article

References (26)

1. Chambliss KL, Caudle DL, Hinson DD, et al. Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression. J Biol Chem. 1995 ; 270: 461-467.
2. Gibson KM, Aramaki S., Sweetman L., et al. Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria. Biomed Environ Mass Spectrom. 1990 ; 19: 89-93.
3. Pearl PL, Gibson KM, Acosta MT, et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003 ; 60: 1413-1417.
4. Knerr I., Gibson KM, Jakobs C., Pearl PL Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr. 2008 ; 13: 598-605.
5. Pearl PL, Acosta MT, Wallis DD, et al. Dyskinetic features of succinate semialdehyde dehydrogenase deficiency, a GABA degradative defect. In: Fernandez-Alvarez E, Arzimanoglu A, Tolosa E, eds. Paediatric Movement Disorders: Progress in Understanding. Montrouge, France: John Libbey Eurotext ; 2005: 203-212.
6. Al-Essa MA, Bakheet SM, Patay ZJ, Powe JE, Ozand PT Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease. Brain Dev. 2000 ; 22: 127-131.
7. Novotny EJ, Jr, Fulbright RK, Pearl PL, Gibson KM, Rothman DL Magnetic resonance spectroscopy of neurotransmitters in human brain. Ann Neurol. 2003 ; 54: S25 - S31.
8. Ethofer T., Seeger U., Klose U., et al. Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency. Neurology. 2004 ; 62: 1016-1018.
9. Hogema BM, Gupta M., Senephansiri H., et al. Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet. 2001 ; 29: 212-216.
10. Gupta M., Polinsky M., Senephansiri H., et al. Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency. Neurobiol Dis. 2004 ; 16: 556-562.
11. Bai Y., Markham K., Chen F., et al. The in vivo brain interactome of the amyloid precursor protein. Mol Cell Proteomics. 2008 ; 7: 15-34.
12. Gundersen HJ, Jensen EB The efficiency of systematic sampling in stereology and its prediction. J Microsc. 1987 ; 147: 229-263.
13. Subbiah P., Mouton P., Fedor H., McArthur JC, Glass JD Stereological analysis of cerebral atrophy in human immunodeficiency virus-associated dementia. J Neuropathol Exp Neurol. 1996 ; 55: 1032-1037.
14. Mouton PR, Price DL, Walker LC Empirical assessment of synapse numbers in primate neocortex. J Neurosci Methods. 1997 ; 75: 119-126.
15. Mouton PR, Long JM, Lei DL, et al. Age and gender effects on microglia and astrocyte numbers in brains of mice. Brain Res. 2002 ; 956: 30-35.
16. Paxinos G., Franklin KBJ. In: The Mouse Brain in Stereotaxic Coordinates. 2 nd ed. New York, NY: Academic Press ; 2003.
17. Press GA, Murakami JW, Courchesne E., Grafe M., Hesselink JR The cerebellum: 3. Anatomic-MR correlation in the coronal plane. AJR Am J Roentgenol. 1990 ; 154: 593-602. (Pubitemid 20071616)
18. Lee SK, Mori S., Kim DJ, et al. Diffusion tensor MRI and fiber tractography of cerebellar atrophy in phenytoin users. Epilepsia. 2003 ; 44: 1536-1540.
19. Rosenbaum T., Engelbrecht V., Krolls W., van Dorsten FA, Hoehn-Berlage M., Lenard HG MRI abnormalities in neurofibromatosis type 1 (NF1): a study of men and mice. Brain Dev. 1999 ; 21: 268-273.
20. Blasi P., Palmerio F., Aiello A., Rocchi M., Malaspina P., Novelletto A. SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions. J Mol Evol. 2006 ; 63: 54-68.
21. Steinlin M. Cerebellar disorders in childhood: cognitive problems. Cerebellum. 2008 ; 7: 607-610.
22. Timmann D., Daum I. Cerebellar contributions to cognitive functions: a progress report after two decades of research. Cerebellum. 2007 ; 6: 159-162.
23. Blatt GJ GABAergic cerebellar system in autism: a neuropathological and developmental perspective. Int Rev Neurobiol. 2005 ; 71: 167-178.
24. Fatemi SH, Reutiman TJ, Folsom TD, Thuras PD GABA(A) receptor downregulation in brains of subjects with autism. J Autism Dev Disord. 2009 ; 39: 223-230.
25. Fatemi SH, Folsom TD, Reutiman TJ, Thuras PD Expression of GABA(B) receptors is altered in brains of subjects with autism. Cerebellum. 2009 ; 8: 64-69.
26. Malaspina P., Picklo MJ, Jakobs C., Snead OC, Gibson KM Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency. Hum Genomics. 2009 ; 3: 106-120.