Neurologic presentation in children with ataxia-telangiectasia: Is small head circumference a hallmark of the disease?

Journal of Pediatrics

Volumn 159, Issue 3, 2011, Pages

  Nissenkorn, Andreea ^a   Banet Levi, Yonit ^a   Vilozni, Daphna ^a   Berkun, Yakov ^a   Efrati, Ori ^a   Frydman, Moshe ^a   Yahav, Jacob ^a   Waldman, Dalia ^a   Somech, Raz ^a   Shenhod, Efrat ^a   Menascu, Shay ^a   Ben Zeev, Bruria ^a  

^a SHEBA MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATAXIA; ATAXIA TELANGIECTASIA; BODY HEIGHT; BODY WEIGHT; BRADYKINESIA; CEREBELLUM DISEASE; CHILD; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DISEASE SEVERITY; DYSARTHRIA; DYSMETRIA; DYSTONIA; EXTRAPYRAMIDAL SYMPTOM; FAMILY; FEMALE; FUNCTIONAL DISEASE; GENOTYPE; HEAD CIRCUMFERENCE; HUMAN; HYPERKINESIA; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; NEUROLOGIC DISEASE; PERINATAL PERIOD; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD;

EID: 80051793958     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2011.02.005     Document Type: Article

References (29)

1. E. Boder, and R.P. Sedgwick Ataxia-telangiectasia: a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection Pediatrics 21 1958 526 554
2. K. Savitsky, A. Bar-Shira, S. Gilad, G. Rotman, Y. Ziv, and L. Vanagaite A single ataxia telangiectasia gene with a product similar to PI-3 kinase Science 23 268 1995 1749 1753
3. M.F. Lavin Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signaling and cancer Nat Rev Mol cell Biol 9 2008 759 769
4. S. Biton, A. Barzilai, and Y. Shiloh The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle DNA Repair (Amst) 7 2008 1028 1038
5. P.J. Brooks, T.F. Cheng, and L. Cooper Do all the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage? DNA Repair (Amst) 7 2008 834 848
6. H.H. Chun, and R.A. Gatti Ataxia-telangiectasia, an evolving phenotype DNA Repair (Amst) 3 2004 1187 1196 (Pubitemid 38997962)
7. G.S. Stewart, R.S. Maser, T. Stankovic, D.A. Bressan, M.I. Kaplan, and N.G. Jaspers The DNA double- strand break repair gene hMRE11 is mutated in individuals with ataxia-telangiectasia-like disorder Cell 99 1999 577 587 (Pubitemid 30004634)
8. Y. Shiloh Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart Annu Rev Genet 31 1997 635 662
9. T.O. Crawford Ataxia-telangiectasia Semin Pediatr Neurol 5 1998 287 294
10. S. Perlman, S. Becker-Catania, and R. Gatti Ataxia-telangiectasia: diagnosis and treatment Semin Pediatr Neurol 3 2003 173 182 (Pubitemid 37414093)
11. C.G. Woods, and A.M.R. Taylor Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals QJM 298 1992 169 179
12. R.F. Lewis, H.M. Lederman, and T.O. Crawford Ocular motor abnormalities in ataxia telangiectasia Ann Neurol 46 1999 287 295 (Pubitemid 29416265)
13. A.G. Shaikh, S. Marti, A.A. Tarnutzer, A. Palla, T.O. Crawford, and D. Straumann Gaze fixation deficits and their implication in ataxia-telangiectasia J Neurol Neurosurg Psychiatry 80 2009 858 864
14. S. Gilad, L. Chessa, R. Khosravi, P. Russell, Y. Galanty, and M. Piane Genotype-phenotype relationships in ataxia-telangiectasia and variants Am J Hum Genet 62 1998 551 561 (Pubitemid 28164612)
15. C.J. Curry, P. O'Lague, J. Tsai, H.T. Hutchison, N.G. Jaspers, and D. Wara AT Fresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome Am J Hum Genet 45 1989 270 275 (Pubitemid 19218234)
16. D.D. Weaver, and J.C. Christian Familial variation of head size and adjustment for parental head circumference J. Pediatr 96 1980 990 994 (Pubitemid 10068831)
17. E.F. Schisterman, S.L. Mumford, and R.W. Platt Z-scores and the birth weight paradox Pediatr Perinat Epidemiol 23 2009 403 413
18. M.E. Zaki, N.E. Hassan, and S.A. El-Masry Head circumference reference data for Egyptian children and adolescents East Mediterr Health 14 2008 69 81 (Pubitemid 351753093)
19. M.A. Gresty, and G.M. Halmagyi Abnormal head movements J Neurol Neurosurg Psychiatry 42 1979 705 714 (Pubitemid 9220272)
20. A.M. Taylor, and P.J. Byrd Molecular pathology of ataxia telangiectasia J Clin Pathol 58 2005 1009 1015 (Pubitemid 41416047)
21. M. Mitui, S.A. Nahas, L.T. Du, Z. Yang, C.H. Lai, and K. Nakamura Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk Hum Mutat 30 2009 12 21
22. M. O'Driscoll, and P. Jeggo The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders DNA repair 7 2008 1039 1050
23. E.R.P. Shull, Y. Lee, H. Nakane, T.H. Stracker, J. Zhao, and H.R. Russell Differential DNA damage signaling accounts for distinct neural apoptotic responses in ATLD and NBS Genes Dev 2003 2009 171 180
24. M. O'Driscoll, V.L. Ruiz-Perez, C.G. Woods, P.A. Jeggo, and J.A. Goodship A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome Nat Genet 33 2003 497 501 (Pubitemid 36390012)
25. E. Griffith, S. Walker, C.A. Martin, P.A. Jeggo, and J.A. Goodship Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling Nat Genet 40 2008 232 236 (Pubitemid 351171398)
26. Tibelius A, Marhold J, Zentgraf H, Heilig CE, Neitzel H, Ducommun B, et al. Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1. 2009;185:1149-57.
27. J. Li, Y.R. Han, M.R. Plummer, and K. Herrup Cytoplasmic ATM in neurons modulates synaptic function Cur Biol 19 2009 2091 2096
28. W.T. Lee, W.S. Chang, C.H. Huang, and K.J. Wu NBS1, the Nijmegen breakage syndrome gene product, regulates neuronal proliferation and differentiation J Neurochem 102 2007 141 152
29. S. Bandhakavi, Y.M. Kim, S.H. Ro, H. Xie, G. Onsongo, and C.B. Jun Quantitative nuclear proteomics identifies mTOR: regulation of DNA damage response Mol Cell Proteomics 9 2010 403 404