Congenital disorder of glycosylation type Ia: A clinicopathological report of a newborn infant with cerebellar pathology

Acta Neuropathologica

Volumn 109, Issue 4, 2005, Pages 433-442

  Aronica, E ^a   van Kempen, A A M W ^a   van der Heide, M ^a   Poll The, B T ^a   van Slooten, H J ^a   Troost, D ^a   Rozemuller Kwakkel, J M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Cerebellar pathology; Congenital disorder of glycosylation type Ia; Glycoprotein biosynthesis; Phosphomannomutase 2

Indexed keywords

PHOSPHOMANNOMUTASE;

ARTICLE; AUTOPSY; CASE REPORT; CAUSE OF DEATH; CELL LOSS; CEREBELLUM DISEASE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; DIFFERENTIAL DIAGNOSIS; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME ANALYSIS; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; MALE; NEUROPATHOLOGY; NEWBORN; PRIORITY JOURNAL; PURKINJE CELL; RESPIRATORY FAILURE;

ARGININE; ATROPHY; CALCIUM-BINDING PROTEIN, VITAMIN D-DEPENDENT; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CEREBELLUM; DNA MUTATIONAL ANALYSIS; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; MALE; METHIONINE; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE, SKELETAL; MUTATION; NEUROGLIA; NEURONS; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); THREONINE; VALINE; VIMENTIN;

EID: 18344392101     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-004-0975-3     Document Type: Article

References (51)

1. Antoun H, Villeneuve N, Gelot A, Panisset S, Adamsbaum C (1999) Cerebellar atrophy: An important feature of carbohydrate deficient glycoprotein syndrome type 1. Pediatr Radiol 29:194-198
2. Aronica E, Leenstra S, Jansen GH, Veelen CW van, Yankaya B, Troost D (2001) Expression of brain-derived neurotrophic factor and tyrosine kinase B receptor proteins in glioneuronal tumors from patients with intractable epilepsy: Colocalization with N-methyl-D-aspartic acid receptor. Acta Neuropathol 101:383-392 1:CAS:528:DC%2BD3MXisFOmtb0%3D
3. Aronica E, Gorter JA, Jansen GH, Veelen CW van, Rijen PC van, Ramkema M, Troost D (2003) Expression and cell distribution of group I and group II metabotropic glutamate receptor subtypes in taylor-type focal cortical dysplasia. Epilepsia 44:785-795 10.1046/j.1528-1157.2003.54802.x
4. Barth PG (1993) Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 15:411-422 10.1016/0387-7604(93)90080-R
5. Barth PG, Wanders RJ, Ruitenbeek W, Roe C, Scholte HR, Harten H van der, Moorsel J van, Duran M, Dingemans KP (1998) Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: A disorder in three unrelated Dutch families. Neuromuscul Disord 8:296-304 10.1016/ S0960-8966(98)00028-5
6. Bashyam MD, Savithri GR, Kumar MS, Narasimhan C, Nallari P (2003) Molecular genetics of familial hypertrophic cardiomyopathy (FHC). J Hum Genet 48:55-64 10.1007/s100380300007
7. Clayton PT, Winchester BG, Keir G (1992) Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 15:857-861
8. De Koning TJ, Toet M, Dorland L, Vries LS de, Berg IE van den, Duran M, Poll-The BT (1998) Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 21:681-682
9. De Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, Schaftingen E van, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V (2001) A broad spectrum of clinical presentations in congenital disorders of glycosylation I: A series of 26 cases. J Med Genet 38:14-19 10.1136/jmg.38.1.14
10. De Vries BB, van'tHoff WG, Surtees RA, Winter RM (2001) Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay. Clin Dysmorphol 10:115-121
11. Dingemans KP, Becker AE (1977) Specificity of cellular and myofibrillar disorientation in hypertrophic obstructive cardiomyopathy. Arch Pathol Lab Med 101:493-499
12. Drouin-Garraud V, Belgrand M, Grunewald S, Seta N, Dacher JN, Henocq A, Matthijs G, Cormier-Daire V, Frebourg T, Saugier-Veber P (2001) Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling. Am J Med Genet 101:46-49 10.1002/ajmg.1298
13. Ellison D, Love S, Chimelli L, Harding BN, Lowe J, Vinters HW (1998) Neuropathology: A reference text of CNS pathology. Mosby, St. Louis
14. Enns GM, Steiner RD, Buist N, Cowan C, Leppig KA, McCracken MF, Westphal V, Freeze HH, O'Brien JF, Jaeken J, Matthijs G, Behera S, Hudgins L (2002) Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr 141:695-700 10.1067/mpd.2002.128658
15. Fanin M, Angelini C (1999) Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins. J Neurol Sci 165:170-177
16. Ferrer I, Genis D, Davalos A, Bernado L, Sant F, Serrano T (1994) The Purkinje cell in olivopontocerebellar atrophy. A Golgi and immunocytochemical study. Neuropathol Appl Neurobiol 20:38-46
17. Gordon N (2000) Carbohydrate-deficient glycoprotein syndromes. Postgrad Med J 76:145-149 10.1136/pmj.76.893.145
18. Grunewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G (2001) High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). Am J Hum Genet 68:347-354 10.1086/318199
19. Grunewald S, De Vos R, Jaeken J (2003) Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG). J Inherit Metab Dis 26:49-54 10.1023/A:1024023429680
20. Holzbach U, Hanefeld F, Helms G, Hanicke W, Frahm J (1995) Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome. Acta Paediatr 84:781-786
21. Horslen SP, Clayton PT, Harding BN, Hall NA, Keir G, Winchester B (1991) Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. Arch Dis Child 66:1027-1032
22. Jensen PR, Hansen FJ, Skovby F (1995) Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome. Neuroradiology 37:328-330
23. Kato S, Hayashi H, Mikoshiba K, Hirano A, Yen SH, Ohama E (1998) Purkinje cells in olivopontocerebellar atrophy and granule cell-type cerebellar degeneration: An immunohistochemical study. Acta Neuropathol 96:67-74 10.1007/s004010050861
24. Kjaergaard S, Skovby F, Schwartz M (1999) Carbohydrate-deficient glycoprotein syndrome type 1A: Expression and characterisation of wild type and mutant PMM2 in E. coli. Eur J Hum Genet 7:884-888
25. Kjaergaard S, Schwartz M, Skovby F (2001) Congenital disorder of glycosylation type Ia (CDG-Ia): Phenotypic spectrum of the R141H/F119L genotype. Arch Dis Child 85:236-239 10.1136/adc.85.3.236
26. Marian AJ, Roberts R (1998) Familial hypertrophic cardiomyopathy: A paradigm of the cardiac hypertrophic response to injury. Ann Med 30 Suppl 1:24-32
27. Marquardt T, Denecke J (2003) Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 162:359-379
28. Marquardt T, Hulskamp G, Gehrmann J, Debus V, Harms E, Kehl HG (2002) Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia. Eur J Pediatr 161:524-527 10.1007/s00431-002-1029-2
29. Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E (1997) Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 16:88-92 10.1038/ng0597-88
30. Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B (2000) Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum Mutat 16:386-394 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y
31. Miossec-Chauvet E, Mikaeloff Y, Heron D, Merzoug V, Cormier-Daire V, Lonlay P de, Matthijs G, Van Hulle C, Ponsot G, Seta N (2003) Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia. Neuropediatrics 34:1-6 10.1055/ s-2003-38614
32. Nakamura R, Kurita K, Kawanami T, Kato T (1999) An immunohistochemical study of Purkinje cells in a case of hereditary cerebellar cortical atrophy. Acta Neuropathol 97:196-200 10.1007/s004010050974
33. Neumann LM, Moers A von, Kunze J, Blankenstein O, Marquardt T (2003) Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation. Eur J Pediatr 162:710-713 10.1007/s00431-003-1278-8
34. Okeda R, Gei S, Chen I, Okaniwa M, Shinomiya M, Matsubara O (1991) Menkes' kinky hair disease: Morphological and immunohistochemical comparison of two autopsied patients. Acta Neuropathol 81:450-457 10.1007/BF00293467
35. Park SH, Becker-Catania S, Gatti RA, Crandall BF, Emelin JK, Vinters HV (1998) Congenital olivopontocerebellar atrophy: Report of two siblings with paleo- and neocerebellar atrophy. Acta Neuropathol 96:315-321 10.1007/s004010050900
36. Pavone L, Fiumara A, Barone R, Rizzo R, Buttitta P, Dobyns WB, Jaeken J (1996) Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. J Neurol 243:700-705 1:STN:280:ByiD1c3gsF0%3D
37. Pirard M, Matthijs G, Heykants L, Schollen E, Grunewald S, Jaeken J, Schaftingen E van (1999) Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. FEBS Lett 452:319-322 10.1016/S0014-5793(99)00673-0
38. Pittella JE, Nogueira AM (1990) Pontoneocerebellar hypoplasia: Report of a case in a newborn and review of the literature. Clin Neuropathol 9:33-38
39. Ramaekers VT, Heimann G, Reul J, Thron A, Jaeken J (1997) Genetic disorders and cerebellar structural abnormalities in childhood. Brain 120:1739-1751 10.1093/brain/120.10.1739
40. Ryan MM, Cooke-Yarborough CM, Procopis PG, Ouvrier RA (2000) Anterior horn cell disease and olivopontocerebellar hypoplasia. Pediatr Neurol 23:1800-184 10.1016/S0887-8994(00)00166-1
41. Schachter H (2001) Congenital disorders involving defective N-glycosylation of proteins. Cell Mol Life Sci 58:1085-1104
42. Schollen E, Kjaergaard S, Legius E, Schwartz M, Matthijs G (2000) Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). Eur J Hum Genet 8:367-371 10.1038/sj.ejhg.5200470
43. Sewry CA (2000) Immunocytochemical analysis of human muscular dystrophy. Microsc Res Tech 48:142-154 10.1002/(SICI)1097-0029(20000201/15)48:3/ 4<142::AID-JEMT3>3.0.CO;2-9
44. Strom EH, Stromme P, Westvik J, Pedersen SJ (1993) Renal cysts in the carbohydrate-deficient glycoprotein syndrome. Pediatr Nephrol 7:253-255 10.1007/BF00853211
45. Ten Donkelaar HJ, Lammens M, Wesseling P, Thijssen HO, Renier WO (2003) Development and developmental disorders of the human cerebellum. J Neurol 250:1025-1036 10.1007/s00415-003-0199-9
46. Troost D, Rossum A van, Straks W, Willemse J (1982) Menkes' kinky hair disease. II. A clinicopathological report of three cases. Brain Dev 4:115-126 10.1016/0165-3806(82)90103-1
47. Urich H (1984) The plasticity of the Purkinje cell. Clin Exp Neurol 20:203-215
48. Van der Knaap MS, Wevers RA, Monnens L, Jakobs C, Jaeken J, Wijk JA van (1996) Congenital nephrotic syndrome: A novel phenotype of type I carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 19:787-791
49. Van Rootselaar AF, Aronica E, Jansen Steur EN, Rozemuller-Kwakkel JM, Vos RA de, Tijssen MA (2004) Familial cortical tremor with epilepsy and cerebellar pathological findings. Mov Disord 19:213-217 10.1002/mds.10662
50. Woodworth A, Fiete D, Baenziger JU (2002) Spatial and temporal regulation of tenascin-R glycosylation in the cerebellum. J Biol Chem 277:50941-50947 10.1074/jbc.M209876200
51. Yang Q, Hashizume Y, Yoshida M, Wang Y, Goto Y, Mitsuma N, Ishikawa K, Mizusawa H (2000) Morphological Purkinje cell changes in spinocerebellar ataxia type 6. Acta Neuropathol 100:371-376 10.1007/s004010000201