Multifocal atrophy of cerebellar internal granular neurons in Lesch-Nyhan disease: Case reports and review

Journal of Neuropathology and Experimental Neurology

Volumn 66, Issue 5, 2007, Pages 346-353

  Del Bigio, Marc R ^a   Halliday, William C ^b  

^a UNIVERSITY OF MANITOBA   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Autopsy; Cerebellum; Granule neurons; Hypoxanthine guanine phosphoribosyltransferase; Lesch Nyhan disease; Striatum

Indexed keywords

HLA DR3 ANTIGEN;

ADULT; ARTICLE; ASTROCYTOSIS; AUTOPSY; BRAIN; BRAIN ATROPHY; BRAIN FUNCTION; BRAIN REGION; BRAIN SIZE; BRAIN WEIGHT; BRONCHOPNEUMONIA; CASE REPORT; CEREBELLUM; CEREBELLUM INJURY; CORPUS STRIATUM; DENDRITE; DISEASE ACTIVITY; HUMAN; HUMAN TISSUE; HYDROMYELIA; IMMUNOREACTIVITY; INCIDENTAL FINDING; LESCH NYHAN SYNDROME; MACROGLIA; MALE; MICROGLIA; MICROSCOPY; MORPHOLOGY; NERVE CELL; NERVE FIBER; PLEURA EFFUSION; PRIORITY JOURNAL; PURKINJE CELL; SCHOOL CHILD;

ADOLESCENT; ADULT; ATROPHY; CEREBELLUM; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; LESCH-NYHAN SYNDROME; MALE; NEURONS;

EID: 34247893935     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/nen.0b013e3180515319     Document Type: Article

References (86)

1. Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain 2006;129:1201-17
2. Visser JE, Schretlen DJ, Harris JC, et al. Lesch-Nyhan disease. In: Goldstein S, Reynolds CR, eds. Handbook of Neurodevelopmental and Genetic Disorders in Adults. New York: Guilford Press, 2005:410-38
3. Jinnah HA, De Gregorio L, Harris JC, et al. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res 2000;463:309-26
4. Visser JE, Bar PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Rev 2000;32:449-75
5. Nyhan WL, Purines. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Nestler EJ, eds. The Molecular and Genetic Basis of Neurologic and Psychiatric Disease, 3rd ed. London: Butterworth Heinemann, 2003:657-62
6. Gibbs RA, Nguyen PN, Edwards A, et al. Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics 1990;7:235-44
7. Voogd J. Cerebellum and precerebellar nuclei. In: Paxinos G, Mai JK, eds. The Human Nervous System, 2nd ed. San Diego, CA: Elsevier Academic Press, 2004:321-92
8. Crawhall JC, Henderson JF, Kelley WN. Diagnosis and treatment of the Lesch-Nyhan syndrome. Pediatr Res 1972;6:504-13
9. Anonymous. Introduction to Lesch-Nyhan disease. [New York University School of Medicine-Psychiatry; Lesch-Nyhan Disease Registry]. Available at: http://www.lndinfo.org/Basics/intro.html. Accessed January 2007
10. Richardson BJ, Ryckman DL, Komarnicki LM, et al. Heterogeneity in the biochemical characteristics of red blood cell hypoxanthine-guanine phosphoribosyl transferase from two unrelated patients with the Lesch-Nyhan syndrome. Biochem Genet 1973;9:197-202
11. Hobman TC. Molecular Studies in Two Unrelated Lesch-Nyhan Syndrome Families. MSc Thesis, University of Manitoba, Winnipeg, 1987
12. Nuckols JD. Autopsy findings in umbilical cord blood transplant recipients. Am J Clin Pathol 1999;112:335-42
13. Berger H, Zoch-Zwierz W, Gosk W, et al. Lesch-Nyhan syndrome in two half-brothers. Ped Pol 1977;52:311-15
14. Rose I. Retrospective diagnosis of Lesch-Nyhan syndrome. Zentralbl Pathol 1992;138:240-43
15. Crome L, Stern J. Pathology of Mental Retardation, 2nd ed. Edinburgh, UK: Churchill Livingstone, 1972
16. Saito Y, Takashima S. Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome. Brain Dev 2000;22(Suppl 1):S122-31
17. Mikolaenko I, Rao LM, Roberts RC, et al. A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease. Neurobiol Dis 2005;20:479-90
18. Burger PC, Scheithauer BW. Atlas of Tumor Pathology. Tumors of the Central Nervous System, Third Series. Washington, DC: Armed Forces Institute of Pathology, 1994
19. Gonzalez-Crussi F, Robertson DM, Hiscox JL. The pathological condition of Lesch-Nyhan syndrome: Report of two cases. Am J Dis Child 1969;118:501-6
20. Mizuno T, Endoh H, Konishi Y, et al. An autopsy case of the Lesch-Nyhan syndrome: Normal HGPRT activity in liver and xanthine calculi in various tissues. Neuropadiatrie 1976;7:351-55
21. Sass JK, Itabashi HH, Dexter RA. Juvenile gout with brain involvement. Arch Neurol 1965;13:639-55
22. Watts RW, Spellacy E, Gibbs DA, et al. Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the neurological manifestations. Q J Med 1982;51:43-78
23. Storey B. The Lesch-Nyhan syndrome. Med J Aust 1969;2:696-99
24. 14C-8-inosine into uric acid, guanosine-monophosphate and adenosine-monophosphate in the liver. Tohoku J Exp Med 1968;95:253-60
25. Hoefnagel D, Andrew ED, Mireault NG, et al. Hereditary choreoathetosis, self-mutilation and hyperuricemia in young males. N Engl J Med 1965;273:130-35
26. Partington MW, Hennen BK. The Lesch-Nyhan syndrome: Self-destructive biting, mental retardation, neurological disorder and hyperuricaemia. Dev Med Child Neurol 1967;9:563-72
27. Mahnovski V, Dozic S, Vulovic D, et al. Necropsy findings in a case of Lesch-Nyhan syndrome. Arch Dis Child 1975;50:666
28. Bassermann R, Gutensohn W, Jahn H, et al. Pathological and immunological observations in a case of Lesch-Nyhan-syndrome. Eur J Pediatr 1979;132:93-98
29. Hoefnagel D. Lesch-Nyhan syndrome: Pathology and pathologic physiology. Summary. Fed Proc 1968;27:1042-46
30. Riley ID. Gout and cerebral palsy in a three-year-old boy. Arch Dis Child 1960;35:293-95
31. Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med 1964;36:561-70
32. Mitchell G, McInnes RR. Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation. Can Med Assoc J 1984;130:1323-24
33. Rassin DK, Lloyd KG, Kelley WN, et al. Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome. Neuropediatrics 1982;13:130-34
34. Warzok R, Schwesinger G, Knapp A, et al. Neuropathological findings in Lesch-Nyhan syndrome. Zentralbl Allg Pathol 1982;126:95-104
35. Lloyd KG, Hornykiewicz O, Davidson L, et al. Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. N Engl J Med 1981;305:1106-11
36. Saito Y, Ito M, Hanaoka S, et al. Dopamine receptor upregulation in Lesch-Nyhan syndrome: A postmortem study. Neuropediatrics 1999;30:66-71
37. Mizuno T. Long-term follow-up of ten patients with Lesch-Nyhan syndrome. Neuropediatrics 1986;17:158-61
38. Rosenbloom FM, Kelley WN, Miller J, et al. Inherited disorder of purine metabolism: Correlation between central nervous system dysfunction and biochemical defects. JAMA 1967;202:175-77
39. Kayser K. Height and weight in human beings: Autopsy report. München, Germany: Verlag für angewandte Wissenschaften, 1987
40. Deutsch SI, Long KD, Rosse RB, et al. Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome. Clin Neuropharmacol 2005;28:28-37
41. Harris JC, Lee RR, Jinnah HA, et al. Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome. Arch Neurol 1998;55:547-53
42. Wong DF, Harris JC, Naidu S, et al. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc Natl Acad Sci U S A 1996;93:5539-43
43. Williamson DJ, Hooper ML, Melton DW. Mouse models of hypoxanthine phosphoribosyltransferase deficiency. J Inherit Metab Dis 1992;15:665-73
44. Wu CL, Melton DW. Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. Nat Genet 1993;3:235-40
45. Jinnah HA, Wojcik BE, Hunt M, et al. Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. J Neurosci 1994;14:1164-75
46. Dunnett SB, Sirinathsinghji DJ, Heavens R, et al. Monoamine deficiency in a transgenic (HPRT-) mouse model of Lesch-Nyhan syndrome. Brain Res 1989;501:401-6
47. van Bogaert L, Radermecker M-A. Une dysgénésie cérébelleuse chez un enfant du radium. Rev Neurol (Paris) 1955;93:65-82
48. Jiang XZ, White R, Morgan KT. An ultrastructural study of lesions induced in the cerebellum of mice by inhalation exposure to methyl chloride. Neurotoxicology 1985;6:93-103
49. Wolkowski-Tyl R, Phelps M, Davis JK. Structural teratogenicity evaluation of methyl chloride in rats and mice after inhalation exposure. Teratology 1983;27:181-95
50. Friede RL. Developmental Neuropathology, 2nd ed. Berlin: Springer Verlag, 1989
51. Sarnat HB, Alcala H. Human cerebellar hypoplasia: A syndrome of diverse causes. Arch Neurol 1980;37:300-5
52. Sum JM, Twiss JL, Horoupian DS. Selective death of immature neurons in methylmalonic acidemia of the neonate: a case report. Acta Neuropathol (Berl) 1993;85:217-21
53. Skullerud K, Marstein S, Schrader H, et al. The cerebral lesions in a patient with generalized glutathione deficiency and pyroglutamic aciduria (5-oxoprolinuria). Acta Neuropathol (Berl) 1980;52:235-38
54. Kinzel N, Strike D, Clark HB, et al. Cerebellopontine degeneration as an immune restoration disease in HIV infection. AIDS 2004;18:2348-50
55. Yamada T, Kobayashi T, Okada Y. The effects of simulated ischemia on the levels of adenosine and its metabolites in slices of cerebellum, superior colliculus and hippocampus in the guinea pig-in vitro study. Brain Res 1998;787:220-25
56. Adams A, Harkness RA. Developmental changes in purine phosphoribosyltransferases in human and rat tissues. Biochem J 1976;160:565-76
57. Ikeda K, Iida T, Nakagawa S. Postnatal expression of hypoxanthine guanine phosphoribosyltransferase in the mouse brain. Enzyme Protein 1993;47:65-72
58. Allsop J, Watts RW. Activities of amidophosphoribosyltransferase (EC 2.4.2.14) and the purine phosphoribosyltransferases (EC 2.4.2.7 and 2.4.2.8), and the phosphoribosylpyrophosphate content of rat central nervous system at different stages of development - their possible relationship to the neurological dysfunction in the Lesch-Nyhan syndrome. J Neurol Sci 1980;46:221-32
59. Gutensohn W, Guroff G. Hypoxanthine-guanine-phosphoribosyltransferase from rat brain (purification, kinetic properties, development and distribution). J Neurochem 1972;19:2139-50
60. Berger SJ, Carter JG, Lowry OH. Distribution of guanine deaminase in mouse brain. J Neurochem 1985;44:1736-40
61. Dawson DM. Absence of guanine deaminase from cerebellum (Abstract). Neurology 1970;20:383
62. Giannattasio S, Gagliardi S, Samaja M, et al. Simultaneous determination of purine nucleotides, their metabolites and β-nicotinamide adenine dinucleotide in cerebellar granule cells by ion-pair high performance liquid chromatography. Brain Res Brain Res Protoc 2003;10:168-74
63. Traversa U, Bombi G, Camaioni E, et al. Rat brain guanosine binding site: Biological studies and pseudo-receptor construction. Bioorg Med Chem 2003;11:5417-25
64. Baron BM, Dudley MW, McCarty DR, et al. Guanine nucleotides are competitive inhibitors of N-methyl-D-aspartate at its receptor site both in vitro and in vivo. J Pharmacol Exp Ther 1989;250:162-69
65. Fonnum F, Lock EA. The contributions of excitotoxicity, glutathione depletion and DNA repair in chemically induced injury to neurones: Exemplified with toxic effects on cerebellar granule cells. J Neurochem 2004;88:513-31
66. Barsotti C, Tozzi MG, Ipata PL. Purine and pyrimidine salvage in whole rat brain: Utilization of ATP-derived ribose-1-phosphate and 5-phosphoribosyl-1-pyrophosphate generated in experiments with dialyzed cell-free extracts. J Biol Chem 2002;277:9865-69
67. +-ATPase activity and some parameters of oxidative stress in rat striatum. Brain Res 2005;1041:198-204
68. Saugstad OD, Marklund SL. High activities of erythrocyte glutathione peroxidase in patients with the Lesch-Nyhan syndrome. Acta Med Scand 1988;224:281-85
69. Valentine WN, Paglia DE. Syndromes with increased red cell glutathione (GSH). Hemoglobin 1980;4:799-804
70. Fairbanks LD, Jacomelli G, Micheli V, et al. Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients. Biochem J 2002;366:265-72
71. Christjanson LJ, Middlemiss PJ, Rathbone MP. Stimulation of astrocyte proliferation by purine and pyrimidine nucleotides and nucleosides. Glia 1993;7:176-82
72. Bolt HM, Gansewendt B. Mechanisms of carcinogenicity of methyl halides. Crit Rev Toxicol 1993;23:237-53
73. Drablos F, Feyzi E, Aas PA, et al. Alkylation damage in DNA and RNA-repair mechanisms and medical significance. DNA Repair 2004;3:1389-1407
74. Litwack MD, Weissmann B. Source of urinary 8-hydroxy-7-methylguanine in man. Biochemistry 1966;5:3007-12
75. 6- methylguanine. Oncogene 2007;26:186-97
76. Chellman GJ, Morgan KT, Bus JS, et al. Inhibition of methyl chloride toxicity in male F-344 rats by the anti-inflammatory agent BW755C. Toxicol Appl Pharmacol 1986;85:367-79
77. Abraham H, Tornoczky T, Kosztolanyi G, et al. Cell formation in the cortical layers of the developing human cerebellum. Int J Dev Neurosci 2001;19:53-62
78. Pelled D, Sperling O, Zoref-Shani E. Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from hypoxanthineguanine phosphoribosyltransferase-deficient transgenic mice. J Neurochem 1999;72:1139-45
79. + to S phase transition. J Biochem (Tokyo) 2000;128:57-64
80. Serra I, Vanella A, Avitabile M, et al. De novo biosynthesis of nucleotides and of nucleic acids in different regions of developing rat brain: effect of undernutrition. J Neurosci Res 1982;8:105-12
81. Boer P, Brosh S, Wasserman L, et al. Decelerated rate of dendrite outgrowth from dopaminergic neurons in primary cultures from brains of hypoxanthine phosphoribosyltransferase-deficient knockout mice. Neurosci Lett 2001;303:45-48
82. Jinnah HA, Lewis RF, Visser JE, et al. Ocular motor dysfunction in Lesch-Nyhan disease. Pediatr Neurol 2001;24:200-4
83. Raike RS, Jinnah HA, Hess EJ. Animal models of generalized dystonia. NeuroRx 2005;2:504-12
84. Rapoport M, van Reekum R, Mayberg H. The role of the cerebellum in cognition and behavior: a selective review. J Neuropsychiatry Clin Neurosci 2000;12:193-98
85. Pelisson D, Goffart L, Guillaume A. Control of saccadic eye movements and combined eye/head gaze shifts by the medio-posterior cerebellum. Prog Brain Res 2003;142:69-89
86. Nyhan WL. Ataxia and disorders of purine metabolism: Defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia. Adv Neurol 1978;21:279-87