Low insulin-like growth factor (IGF-1) in the cerebrospinal fluid of children with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome and cerebellar degeneration

Epilepsia

Volumn 40, Issue 11, 1999, Pages 1642-1648

  Riikonen, Raili ^a   Somer, Mirja ^b   Turpeinen, Ursula ^c  

^a UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^b Vaestoliitto   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

IGF 1; Insulin like growth factor; PEHO syndrome

Indexed keywords

SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C;

ADOLESCENT; ARTICLE; BRAIN CELL; BRAIN DISEASE; CELL SURVIVAL; CEREBELLUM DEGENERATION; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DISEASE MARKER; FEMALE; HUMAN; IMAGE ANALYSIS; INFANT; MALE; PATHOGENESIS; PRIORITY JOURNAL; PROGRESSIVE ENCEPHALOPATHY HYPSARRHYTHMIA AND OPTIC ATROPHY SYNDROME; PROTEIN CEREBROSPINAL FLUID LEVEL; RADIODIAGNOSIS;

EID: 0032722020     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1528-1157.1999.tb02051.x     Document Type: Article

References (44)

1. Riikonen R. Infantile spasms in siblings. J Pediatr Neurosci 1987; 3:235-44.
2. Salonen R, Somer M, Haltia M, Lorentz M, Norio R. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Genet 1991;39:287-93.
3. Somer M. Diagnostic criteria and genetics of the PEHO syndrome. J Med Genet 1993;30:932-6.
4. Somer M, Sainio K. Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome) Epilepsia 1993;34:727-31.
5. Somer M, Salonen O, Pihko H, Norio R. PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings. AJNR Am J Neuroradiol 1993; 14:861-7.
6. Somer M, Setälä K, Kivelä T, Haltia M, Norio R. The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy). Neuroophthalmology 1993;13:65-74.
7. Haltia M, Somer M. Infantile cerebello-optic atrophy; neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome). Acta Neuropathol 1993;85:241-7.
8. Fujimoto S, Yokochi K, Nakano M, Wada Y. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings. Neuropediatrics 1995;26: 270-2.
9. Chitty L., Robb S, Berry C, Silver D, Baraitser M. PEHO or PEHO-like syndrome. Clin Dysmorph 1996;5:143-52.
10. Shevell MI, Colangelo P, Treacy E, Polomeno RC, Rosenblatt B. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Pediatr Neurol 1996;15:337-9.
11. Harvey AS, Jayakar P, Duchowny M, et al. Hemifacial seizures and cerebellar ganglioglioma: an epilepsy syndrome of infants with seizures of cerebellar origin. Ann Neurol 1996;40:91-8.
12. McLone DG, Stieg PE, Scott RM, Barnett F, Barnes PD, Folkerth R. Cerebellar epilepsy. Neurosurgery 1998;42:1106-11.
13. Baker J, Liu J-P, Robertson E, Efstratiadis A. Role of insulin-like growth factors in embryonic and postnatal growth. Cell 1993;75: 73-82.
14. Liu J-P, Baker J, Perkins A, Robertson E, Efstratiadis A. Mice carrying null mutations of genes encoding insulin-like growth factor I (IGF-1) and type I IGF-receptor (IGF-R) Cell 1993;75:59-72.
15. Jones J, Clemmons D. Insulin-like growth factors and their binding protein: biological actions. Endocr Rev 1995;16:3-34.
16. Höppener J, de Pagter-Holthuizen P, Geurts van Kessel A, et al. The human gene encoding insulin-like growth factor I is located on chromosome 12. Hum Genet 1985;69:157-60.
17. Rechler M, Nissley S. Insulin-like growth factors: In: Sporn M, Roberts A, eds. Handbook of experimental pharmacology: peptide growth factors and their receptors. I. Berlin: Springer-Verlag. 1989;263-367.
18. Beck K, Bowell-Braxton L, Wildmer H, Valverde J, Hefti F. IGF-1 gene disruption results in reduced brain size, CNS hypomyelination, and loss of hippocampal granule and striatal paralbumin-containing neurons. Neuron 1995;14:17-30.
19. Vig P, Desaiaah D, Joshi P, Subramony S, Fratkin J, Currier R. Decreased insulin-like growth factor-I-mediated protein tyrosine phosphorylation in human olivopontocerebellar atrophy and lurcher mutant mouse. J Neurol Sci 1991;124:38-44.
20. Komoly S, Hudson L, Webster H, et al. Insulin-like growth factor I gene expression is induced in astrocytes during experimental demyelination. Proc Natl Acad Sci U S A 1992;89:1894-8.
21. Guthrie K, Nguen T, Gall C. Insulin-like growth factor-1 MRNA is increased in deafferented hippocampus: spatio-temporal correspondence of a trophic event with axon sprouting. J Comp Neurol 1995;352:147-60.
22. D'Mello S, Galli C, Ciotti T, Calissano P. Induction of apoptosis in cerebellar granule neurons by potassium. Proc Natl Acad Sci U S A 1993;90:10989-93.
23. Torres-Aleman I, Poins S, Santos-Benito F. Survival of Purkinje cells in cerebellar cultures is increased by insulin-like growth factor 1. Eur J Neurosci 1992;4:864-9.
24. Torres-Aleman I, Villaba M, Nieto-Bona M. Insulin-like growth factor-1 modulation of cerebellar cell populations is developmentally stage-dependent and mediated by specific intracellular pathways. Neuroscience 1998;83:321-34.
25. Torres-Aleman I, Barrios V, Lledo A, Berciano J. The insulin-like growth factor I system in cerebellar degeneration. Ann Neurol 1996;39:335-42.
26. Sorva R, Tolppanen EM, Lankinen S, Perheentupa J. Growth evaluation: parent and specific height standards. Arch Dis Child 1989:64:1483-7.
27. Mincler J. Pathology of the nervous system. Vol 1. New York: McGraw-Hill, 1968:123.
28. Nikali K, Isosomppi T, Lönnqvist T, Mao J, Suomalainen A, Peltonen L. Toward cloning of a novel ataxia gene: refined assigment and physical map of the IOSCA locus (SCA8) on 10q24. Genomics 1997;39:185-91.
29. Blum P. Insulin-like growth factor-binding protein 3: Entwicklng eines radioimmunoassays und untersuchungen zur klinischen bedeutung. Tubingen: Der Medizinischen Fakultät der Universität Tübingen, Habilitationsschrift, 1993: 119-21.
30. Harding A. Clinical features and classification of inherited ataxias. In: Harding AE, Deufel T, eds. Inherited ataxias. New York: Raven Press. 1993:1-14.
31. Jellinger K. Neuropathological aspects of infantile spasms. Brain Dev 1987;9:349-57.
32. Hintz R, Liu F, Seegan G. Characterization of an insulin-like growth factor-I/somatomedin C radioimmunoassay specific for the C-peptide region. J Clin Endocrinol Metab 1982;55:927-30.
33. Zapf J, Morell B, Walter H, et al. Serum levels of insulin-like growth factor (IGF) and its carrier protein in various metabolic disorders. Acta Endocrinol (Copenh) 1980;95:505-17.
34. Isley W., Underwood L., Clemmons D. Dietary components that regulate serum somatomedin-C concentrations in humans. J Clin Invest 1983;71:175-82.
35. Tham A, Nordberg A, Grisson E, Carlsson-Skwirut C, Viitanen M, Sara V. Insulin-like growth factor binding proteins in cerebrospinal fluid and serum in patients with dementia of the Alzheimer type. J Neural Transm 1993;5:165-76.
36. Bondy C, Werner H, Roberts C, et al. Cellular pattern of type-I insulin-like growth factor receptor gene expression during maturation of the rat brain: comparison with insulin-like growth factors I and II. Neuroscience 1992:46:909-23.
37. Bach M, Shen-Orr Z, Lowe W, Roberts C, LeRoith D. Insulin-like growth factor I mRNA levels are developmentally regulated in specific regions of the rat brain. Mol Brain Res 1991;10:43-8.
38. Werther G, Russo V, Baker N, Butler G. The role of the insulin-like growth factor system in the developing brain. Horm Res 1998; 49:37-40.
39. Dudek H, Datta S, Franke T, et al. Regulation of neuronal survival by serine-threonine protein kinase. Akt Sci 1997;275:661-5.
40. Gao W, Heintz N, Hatten M. Cerebellar granule cell neurogenesis is regulated by cell-cell interactions in vitro. Neuron 1991;6:705-15.
41. Barres BA. Cell death and control of cell survival in the oligodendrocyte lineage. Cell 1992;70:31-46.
42. Bondy C. Transient IGF-1 gene expression during the maturation of functionally related central projection neurons. J Neurosci 1991; 11:3442-55.
43. Reinhardt RR, Bondy CA. Insulin-like growth factors cross the blood-brain barrier. Endocrinology 1994;135:1753-61.
44. Fernandez A, de la Vega A, Torres-Aleman I. Insulin-like growth factor. Proc Natl Sci U S A 1998;95:1253-8.