Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives

Brain

Volumn 137, Issue 6, 2014, Pages 1753-1761

  Volkow, Nora D ^a,b   Tomasi, Dardo ^a   Wang, Gene Jack ^a   Studentsova, Yana ^a   Margus, Brad ^c   Crawford, Thomas O ^d  

^a NATIONAL INSTITUTE ON ALCOHOL ABUSE AND ALCOHOLISM   (United States)

^b NATIONAL INSTITUTE ON DRUG ABUSE   (United States)

^c A T Children's Project   (United States)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

ataxia telangiectasia mutated; ATM; cerebellum; fusiform gyrus; globus pallidus; hippocampus

Indexed keywords

FLUORODEOXYGLUCOSE F 18; GLUCOSE;

ADULT; ARTICLE; ATAXIA TELANGIECTASIA; BASAL GANGLION; BRAIN DEPTH STIMULATION; BRAIN FUNCTION; BRAIN REGION; CEREBELLUM; CONTROLLED STUDY; FEMALE; GLOBUS PALLIDUS; GLUCOSE BRAIN LEVEL; GLUCOSE METABOLISM; HETEROZYGOSITY; HIPPOCAMPUS; HUMAN; HYPERACTIVITY; MAJOR CLINICAL STUDY; MALE; METABOLIC RATE; MOTOR PERFORMANCE; PARENT; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SIBLING;

ATAXIA TELANGIECTASIA MUTATED; ATM; CEREBELLUM; FUSIFORM GYRUS; GLOBUS PALLIDUS; HIPPOCAMPUS;

ADOLESCENT; ADULT; ATAXIA TELANGIECTASIA; ATAXIA TELANGIECTASIA MUTATED PROTEINS; BRAIN; FEMALE; FLUORODEOXYGLUCOSE F18; GLUCOSE; HETEROZYGOTE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; MALE; MUTATION; POSITRON-EMISSION TOMOGRAPHY; YOUNG ADULT;

EID: 84901411227     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu092     Document Type: Article

References (42)

1. Casaril M, Gabrielli GB, Capra F, Falezza GC. Ataxia telangiectasia. Description of a case with multiple cerebral hemorrhages and liver cirrhosis. Minerva Med 1982; 73: 2183-8.
2. Cavanna AE, Trimble MR. The precuneus: a review of its functional anatomy and behavioural correlates. Brain 2006; 129 (Pt 3): 564-83.
3. Crawford TO, Mandir AS, Lefton-Greif MA, Goodman SN, Goodman BK, Sengul H, et al. Quantitative neurologic assessment of ataxia-telangiectasia. Neurology 2000; 54: 1505-9.
4. Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) 2004; 3: 1187-96.
5. Dar I, Biton S, Shiloh Y, Barzilai A. Analysis of the ataxia telangiectasia mutated-mediated DNA damage response in murine cerebellar neurons. J Neurosci 2006; 26: 7767-74.
6. Eidelberg D. Metabolic brain networks in neurodegenerative disorders: a functional imaging approach. Trends Neurosci 2009; 32: 548-57.
7. Fasano A, Daniele A, Albanese A. Treatment of motor and non-motor features of Parkinson's disease with deep brain stimulation. Lancet Neurol 2012; 11: 429-42.
8. Friston KJ, Holmes AP, Worsley KJ, Poline JP, Frith CD, Frackowiak RSJ. Statistical parametric maps in functional imaging: a general linear approach. Hum Brain Mapp 1995; 2: 189-210.
9. Habek M, Brinar VV, Rados M, Zadro I, Zarković K. Brain abnormalities in ataxia telangiectasia. Neurologist 2008; 14: 192-5.
10. Hoche F, Seidel K, Theis M, Vlaho S, Schubert R, Zielen S, et al. Neurodegeneration in ataxia telangiectasia: what is new? What is evident? Neuropediatrics 2012; 14: 119-29.
11. Hyam JA, Owen SL, Kringelbach ML, Jenkinson N, Stein JF, Green AL, et al. Contrasting connectivity of the ventralis intermedius and ventralis oralis posterior nuclei of the motor thalamus demonstrated by probabilistic tractography. Neurosurgery 2012; 70: 162-9.
12. Jiang H, Tang B, Xia K, Hu Z, Shen L, Tang J, et al. Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia. J Neurol Sci 2006; 241: 1-6.
13. Kieslich M, Hoche F, Reichenbach J, Weidauer S, Porto L, Vlaho S, et al. Extracerebellar MRI-lesions in ataxia-telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age. Cerebellum 2010; 9: 190-7.
14. Koepp M, Schelosky L, Cordes I, Cordes M, Poewe W. Dystonia in ataxia-telangiectasia: report of a case with putaminal lesions and decreased striatal [123I]iodobenzamine binding. Mov Disord 1994; 9: 455-9.
15. Kojima Y, Soetedjo R, Fuchs AF. Behavior of the oculomotor vermis for five different types of saccade. J Neurophysiol 2010; 104: 3667-76.
16. Lewis RF, Lederman HM, Crawford TO. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol 1999; 46: 287-95.
17. Li A, Swift M. Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. Am J Med Genet 2000; 92: 170-7.
18. Li J, Han YR, Plummer MR, Herrup K. Cytoplasmic ATM in neurons modulates synaptic function. Curr Biol 2009; 19: 2091-6.
19. Lin DD, Barker PB, Lederman HM, Crawford TO. Cerebral abnormalities in adults with ataxia-telangiectasia. AJNR Am J Neuroradiol 2014; 35: 119-23.
20. Ma Y, Tang C, Spetsieris P, Dhawan V, Eidelberg D. Abnormal metabolic network activity in Parkinson's disease: Test-retest reproducibility. J Cereb Blood Flow Metab 2007; 27: 597-605.
21. Marsden CD, Obeso JA. The functions of the basal ganglia and the paradox of stereotaxic surgery in Parkinson's disease. Brain 1994; 117 (Pt 4): 877-97.
22. Marzban H, Hawes R. On the architecture of the posterior zone of the cerebellum. Cerebellum 2011; 10: 422-34.
23. NLM. Genetics Home Reference: your guide to understanding genetic conditions. 2014. Available from: http://ghr.nlm.nih.gov/gene/ATM.
24. Opeskin K, Waterston J, Nirenberg A, Hare WS. Ataxia telangiectasia with long survival. J Clin Neurosci 1998; 5: 471-3.
25. Phelps ME, Huang SC, Hoffman EJ, Selin C, Sokoloff L, Kuhl DE. Tomographic measurement of local cerebral glucose metabolic rate in humans with (F-18)2-fluoro-2-deoxy-D-glucose: validation of method. Ann Neurol 1979; 6: 371-88.
26. Prevosto V, Sommer MA. Cognitive control of movement via the cerebellar-recipient thalamus. Front Syst Neurosci 2013; 7: 56.
27. Sang L, Qin W, Liu Y, Han W, Zhang Y, Jiang T, et al. Resting-state functional connectivity of the vermal and hemispheric subregions of the cerebellum with both the cerebral cortical networks and subcortical structures. Neuroimage 2012; 61: 1213-25.
28. Schaefer M, Heinze HJ, Galazky I. Alien hand syndrome: neural correlates of movements without conscious will. PLoS One 2010; 5: e15010.
29. Schraa-Tam CK, Rietdijk WJ, Verbeke WJ, Dietvorst RC, van den Berg WE, Bagozzi RP, et al. fMRI activities in the emotional cerebellum: a preference for negative stimuli and goal-directed behavior. Cerebellum 2012; 11: 233-45.
30. Sokoloff L, Reivich M, Kennedy C, Des Rosiers MH, Patlak CS, Pettigrew KD, et al. The [14C]deoxyglucose method for the measurement of local cerebral glucose utilization: theory, procedure, and normal values in the conscious and anesthetized albino rat. J Neurochem 1977; 28: 897-916.
31. Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT. The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet 1986; 39: 573-83.
32. Sedgwick RP, Boder E. Ataxia-telangiectasia. In: de Jong JMJV, editor. Hereditary Neuropathies and Spinocerebellar Atrophies. Vol 16, Handbook of Clinical Neurology. Amsterdam: Elsevier; 1991: 347-423; 1991.
33. Talairach J, Tournoux P, editors. Co-planar stereotaxic atlas of the human brain. New York: Thieme Medical Publishers; 1988.
34. Tavani F, Zimmerman RA, Berry GT, Sullivan K, Gatti R, Bingham P. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology 2003; 45: 315-9.
35. Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 2005; 97: 813-22.
36. Verhagen MM, Abdo WF, Willemsen MA, Hogervorst FB, Smeets DF, Hiel JA, et al. Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 2009; 73: 430-7.
37. Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, et al. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotypephenotype study. Hum Mutat 2012a; 33: 561-71.
38. Verhagen MM, Martin JJ, van Deuren M, Ceuterick-de Groote C, Weemaes CM, Kremer BH, et al. Neuropathology in classical and variant ataxia-telangiectasia. Neuropathology 2012b; 32: 234-44.
39. Vidailhet M, Yelnik J, Lagrange C, Fraix V, Grabli D, Thobois S, et al. Bilateral pallidal deep brain stimulation for the treatment of patients with dystonia-choreoathetosis cerebral palsy: a prospective pilot study. Lancet Neurol 2009; 8: 709-17.
40. Volkow ND, Wang GJ, Ma Y, Fowler JS, Wong C, Ding YS, et al. Activation of orbital and medial prefrontal cortex by methylphenidate in cocaine-addicted subjects but not in controls: relevance to addiction. J Neurosci 2005; 25: 3932-9.
41. Wallis LI, Griffiths PD, Ritchie SJ, Romanowski CA, Darwent G, Wilkinson ID. Proton spectroscopy and imaging at 3T in ataxia-telangiectasia. AJNR Am J Neuroradiol 2007; 28: 79-83.
42. Wang GJ, Volkow ND, Roque CT, Cestaro VL, Hitzemann RJ, Cantos EL, et al. Functional importance of ventricular enlargement and cortical atrophy in healthy subjects and alcoholics as assessed with PET, MRI imaging and neuropsychological testing. Radiology 1993; 186: 59-65.