Congenital pontocerebellar atrophy and telencephalic defects in three siblings: A new subtype

Acta Neuropathologica

Volumn 114, Issue 4, 2007, Pages 387-399

  Leroy, Jules G ^a   Lyon, Gilles ^b,c   Fallet, Catherine ^d   Amiel, Jeanne ^c   De Praeter, Claudine ^a   Van Den Broecke, Caroline ^a   Vanhaesebrouck, Piet ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c Clinique de Genetique Medicale   (France)

^d University of Paris   (France)

Author keywords

Autosomal recessive inheritance; Congenital olivo ponto cerebellar atrophy (COPCA); Familial micrencephaly; Neocerebellar developmental defect; Pontocerebellar hypoplasia (PCH); Telencephalic dysplasia

Indexed keywords

ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN MALFORMATION; BRAIN STEM; CASE REPORT; CEREBELLUM ATROPHY; DEVELOPMENTAL DISORDER; EPILEPTIC STATE; FEMALE; FOREBRAIN; HUMAN; HUMAN TISSUE; INFANT; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE; MUTANT; NEUROPATHOLOGY; PATHOGENESIS; PONTOCEREBELLAR ATROPHY; PRIORITY JOURNAL; RHOMBENCEPHALON; SIBLING; TELENCEPHALON; TONIC SEIZURE;

BRAIN; FEMALE; HUMANS; INFANT, NEWBORN; MALE; OLIVOPONTOCEREBELLAR ATROPHIES; PEDIGREE; PREGNANCY; SIBLINGS;

EID: 34848872189     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-007-0248-z     Document Type: Article

References (66)

1. Albrecht S, Schneider MC, Belmont J, Armstrong DL (1993) Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings. Acta Neuropathol (Berl) 85:394-399
2. Barbot C, Carneiro G, Melo J (1997) Pontocerebellar hypoplasia with microcephaly and dyskinesia: Report of two cases. Dev Med Child Neurol 39:554-557
3. Barth PG, Vrensen GFJM, Uylings HBM, Oorthuys JW, Stam FC (1990) Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: A systemic atrophy with early onset. J Neuro Sci 97:25-42
4. Barth PG (1993) Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 15:411-422
5. Barth PG, Blennow G, Lenard H-G, Begeer JH, van der Kley JM, Hanefeld F, Peters AC, Valk J (1995) The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): Compiled data from ten pedigrees. Neurology 45:311-317
6. Barth PG (2000) Pontocerebellar hypoplasia- how many types? Eur J Paediatr Neurol 4:161-162
7. Ben-Arie N, Bellen HJ, Armstrong DL, McCall AE, Gordadze PR, Guo Q, Matzuk MM, Zoghbi HY (1997) Math 1 is essential for genesis of cerebellar granule neurons. Nature 390:169-172
8. Bertuzzi S, Porter FD, Pitts A, Kumar M, Agulnik A, Wassif C, Westphal H (1999) Characterization of Lhx9, a novel LIM/homeobox gene expressed by the pioneer neurons in the mouse cerebral cortex. Mech Dev 81:193-198
9. Biemond A (1955) Hypoplasia ponto-neocerebellaris with malformation of the dentate nucleus. Folia Psychiatr Neurol Neurochir Ned 58:2-7
10. Bishop KM, Rubinstein GL, O'Leary DD (2002) Distinct actions of Emx 1, Emx 2, and Pax 6 in regulating specification of areas in the developing neocortex. J Neurosci 22:7627-7638
11. Brun R (1917) Zur Kenntnis der Bildungsfehler des Kleinhirns. Schweiz Arch Neurol Psychiatr 1:61-123
12. Brun R (1918a) Zur Kenntnis der Bildungsfehler des Kleinhirns. Schweiz Arch Neurol Psychiatr 2:48-105
13. Brun R (1918b) Zur Kenntnis der Bildungsfehler des Kleinhirns. Schweiz Arch Neurol Psychiatr 3:13-88
14. Chavez-Vischer V, Pizzolato GP, Hanquinet S, Maret A, Bottani A, Haenggeli CA (2000) Early fatal pontocerebellar hypoplasia in premature twin sisters. Eur J Paediatr Neurol 4:171-176
15. Chizhikov V, Millen KJ (2003) Development and malformations of the cerebellum in mice. Mol Genet Metab 80:54-65
16. Chou SM, Gilbert EF, Chun RW, Laxova R, Tuffli GA, Sufit RL, Krassinot N (1990) Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA+ SMA). Clin Neuropathol 9:21-31
17. Coppola G, Muras I, Pascotto A (2000) Pontocerebellar hypoplasia 2 (PCH2): Report of two siblings. Brain Dev 22:188-192
18. Costa C, Harding B, Copp AJ (2001) Neuronal migration defects in the dreher (Mlx1a) mutant mouse: Role of disorders of the glial limiting membrane. Cereb Cortex 6:498-505
19. De Bergeyck V, Naerhayzen B, Goffinet AM, Lambert de Rouvroit C (1998) A panel of monoclonal antibodies against Reelin, the extracellular matrix protein defective in Reeler mutant mice. J Neurosci Methods 82:17-24
20. De Koning TJ, De Vries LS, Groenendaal F, Ruitenbeek W, Jansen GH, Poll-Thé BT, Barth PG (1999) Pontocerebellar hypoplasia associated with respiratory-chain defects. Neuropediatrics 30:93-95
21. De Leon GA, Grover WD, D'Cruz CA (1984) Amyotrophic cerebellar hypoplasia. A specific form of infantile spinal atrophy. Acta Neuropathol (Berl) 63:282-286
22. Dubowitz V, Daniels RJ, Davies KE (1995) Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q. Neuromuscul Disord 5:25-29
23. Engelkamp D, Rashbass P, Seawright A, Van Heyningen V (1999) Role of Pax 6 in development of the cerebellar system. Development 126:3585-3596
24. Evrard Ph, Lyon G, Gadisseux JF (1984) Le développement prénatal du système nerveux et ses perturbations. Progrès Neonatol 4:71-85
25. Failli V, Bachy I, Retaux S (2002) Expression of the LIM-homeodomain gene Lmx1a (dreher) during development of the mouse nervous system. Mech Dev 118:225-228
26. Filimonoff IN (1966) The claustrum, its origin and development. J Hirnforsch 8:503-528
27. Gadisseux JF, Rodriguez J, Lyon G (1984) Pontocerebellar hypoplasia. A probable consequence of prenatal destruction of the pontine nuclei and a possible role of phenytoin intoxication. Clin Neuropathol 3:160-167
28. Görgen-Pauli U, Sperner J, Reiss I, Gehl HB, Reusche E (1999) Familial pontocerebellar hypoplasia type 1 with anterior horn cell disease. Eur J Paediatr Neurol 3:33-38
29. Goutières F, Aicardi J, Farkas E (1977) Anterior horn cell disease associated with pontocerebellar hypoplasia in infants. J Neurol Neurosurg Psychiatr 40:370-378
30. Grellner W, Rohde K, Wilske J (2000) Fatal outcome in a case of pontocerebellar hypoplasia type 2. Forensic Sci Int 113:165-172
31. Gross H, Kaltenbäck E (1959) Über eine kombinierte progressive pontocerebellare systematrophie bei einem kleinkind. Dtsch Z Nervenheilkd 179:388-400
32. Gudovi R, Marinkovi R, Aleksi S (1987) The development of the dentate nucleus in man. Anat Anz Iena 163:233-238
33. Hamburgh M (1963) Analysis of the postnatal developmental effects of , a neurological mutation in mice. A study in developmental genetics. Dev Biol 19:165-185
34. Harding BN, Boyd SG (1991) Intractable seizures from infancy can be associated with dentate-olivary dysplasia. J Neurol Sci 104:157-165
35. Hashimoto K, Takeuchi Y, Kida Y, Hasegawa H, Kantake M, Sasaki A, Asanuma K, Isumi H, Takashima S (1998) Three siblings of fatal infantile encephalopathy with olivopontocerebellar hypoplasia and microcephaly. Brain Dev 20:169-174
36. Kamoshita S, Takei Y, Miyao M, Yanagisawa M, Kobayashi S, Saito K (1990) Pontocerebellar hypoplasia associated with infantile motor neuron disease (Norman's disease). Pediatr Pathol 10:133-142
37. Kawagoe T, Jacob H (1986) Neocerebellar hypoplasia with systemic combined olivopontodentatal degeneration in a 9-day-old baby: contribution to the problem of relations between malformation and systemic degeneration in early life. Clin Neuropathol 5:203-208
38. Lyon G (1995) Congenital malformation of the brain. In: Levene MI, Lilford RJ (eds) Fetal and neonatal neurology and surgery, 2nd edn. Churchill Livingstone, London, pp 193-214
39. Millonig JH, Millen KJ, Hatten ME (2000) The mouse Dreher gene Lmx1a controls formation of the roof plate in the vertebrate CNS. Nature 403:764-769
40. Mitra AG, Salvino AR, Spence JE (1999) Prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome. Prenat Diagn 19:375-378
41. Monuki ES, Porter FD, Walsch CA (2001) Patterning of the dorsal telencephalon and cerebral cortex by a roof plate-Lhx2 pathway. Neuron 32:591-604
42. Muntoni F, Goodwin F, Sewry C, Cox P, Cowan F, Airaksinen E, Patel S, Ignatius J, Dubowitz V (1999) Clinical spectrum and diagnostic difficulties of infantile pontocerebellar hypoplasia type 1. Neuropediatrics 30:243-248
43. Norman RM (1940) Primary degeneration of the granular layer of the cerebellum: An unusual form of familial cerebellar atrophy occurring in early life. Brain 63:365-379
44. Norman RM (1961) Cerebellar hypoplasia in Werdnig-Hoffmann disease. Arch Dis Child 36:96-101
45. Norman RM, Kay JM (1965) Cerebello-thalamo-spinal degeneration in infancy: An unusual variant of Werdnig-Hoffmann disease. Arch Dis Child 40:370-378
46. Parisi MA, Dobyns WB (2003) Human malformations of the midbrain and hindbrain: Review and proposed classification scheme. Mol Genet Metab 80:36-53
47. 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 (Berl) 96:315-321
48. Patel MS, Becker LE, Toi A, Armstrong DL, Chitayat D (2006) Severe, fetal-onset form of olivopontocereballar hypoplasia in three sibs: PCH Type 5? Am J Med Genet 140A:594-603
49. Peiffer J, Pfeiffer RA (1977) Hypoplasia pontocerebellaris. J Neurol 215:241-251
50. Pittella JE, Nogueira AM (1990) Pontocerebellar hypoplasia: Report of a case in a newborn and review of the literature. Clin Neuropathol 9:33-38
51. Rajab A, Mochida GH, Hill A, Ganesch V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA (2003) A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurol 60:1664-1667
52. Robain O, Dulac O, Lejeune J (1987) Cerebellar hemispheric agenesis. Acta Neuropathol (Berl) 74:202-206
53. Rudnik-Schöneborn S, Wirth B, Röhrig D, Saule H, Zerres K (1995) Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration. Neuromuscul Disord 5:19-23
54. Scherer HJ (1933) Beiträge zur pathologischen Anatomie des Kleinhirns. III. Genuine Kleinhirnatrophien. Ztschr Ges Neurol Psychiatr Orig 145:335-349
55. Shinozaki K, Yoshida M, Nakamura M, Aizawa S, Suda Y (2004) Emx 1 and Emx 2 cooperate in initial phase of archipallium development. Mech Dev 121:475-489
56. Simonati A, Dalla Bernardina B, Colombari R, Rizzuto N (1997) Pontocerebellar hypoplasia with dystonia: Clinicopathological findings in a sporadic case. Childs Nerv Syst 13:642-647
57. Sotelo C, Mariani J (1999) Research strategies for the analysis of neurological mutants in mice. In: Crassio WE, Gerlai RT (eds) Handbook of molecular genetic techniques for brain and behavior research. Techniques in the behavioral and neural sciences, vol 13. Elsevier Science, Amsterdam, pp 132-146
58. Stoykova A, Treichel D, Hallonet M, Gruss P (2000) Pax 6 modulates the dorsoventral patterning of the mammalian telencephalon. J Neurosci 20:8042-8050
59. Uhl M, Pawlik H, Laubenberger J, Darge K, Baborie A, Korinthenberg R, Langer M (1998) MR findings in pontocerebellar hypoplasia. Pediatr Radiol 28:547-555
60. Vossbeck S, Scheuerle A, Bechinger D, Pohlandt F (1997) Olivopontocerebral hypoplasia - case report of a neurodegenerative disease manifesting at birth with fatal outcome. Klin Pädiat 209:137-140
61. Wang VY, Zoghbi HY (2001) Genetic regulation of cerebellar development. Nat Rev Neurosci 2:484-491
62. Wang VY, Rose MF, Zoghbi HY (2005) Math 1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brain stem and cerebellum. Neuron 48:31-43
63. Weinberg AG, Kirkpatrick JP (1975) Cerebellar hypoplasia in Werdnig-Hoffmann disease. Dev Med Child Neurol 17:511-516
64. Young ID, McKeever PA, Squier MV, Grant J (1992) Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs. J Med Genet 29:733-735
65. Zanjani HS, Herrup K, Guastavino JM, Delaye-Bouchaud N, Mariani J (1994) Development of the inferior olivary nucleus in Staggerer mutant mice. Dev Brain Res 82:18-28
66. Zelnik N, Dobyns WB, Forem SL, Kolodny EH (1996) Congenital pontocerebellar atrophy in three patients: Clinical, radiologic, and etiologic considerations. Neuroradiology 38:684-687