Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: Widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex

Acta Neuropathologica

Volumn 104, Issue 6, 2002, Pages 649-657

  Kakita, Akiyoshi ^a   Hayashi, Shintaro ^a   Moro, Francesca ^b   Guerrini, Renzo ^c   Ozawa, Tsunenori ^d   Ono, Koji ^d   Kameyama, Shigeki ^e   Walsh, Christopher A ^f   Takahashi, Hitoshi ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d Niigata Prefectural Chuo Hospital   (Japan)

^e Nishi Niigata Central Hospital   (Japan)

^f HARVARD INSTITUTES OF MEDICINE   (United States)

Author keywords

Epilepsy; Filamin 1; Migration disorder; Subependymal heterotopia; Vascular anomaly

Indexed keywords

ACTIN; BLOOD CLOTTING FACTOR 8; CALBINDIN; CALRETININ; CARBOCYANINE; FILAMIN; GLIAL FIBRILLARY ACIDIC PROTEIN; LAMININ; PARVALBUMIN;

ADULT; ANTIBODY LABELING; ARTICLE; ASTROCYTE; AUTOPSY; BASEMENT MEMBRANE; BLOOD VESSEL WALL; BRAIN CORTEX; CELL MIGRATION; CELL ULTRASTRUCTURE; CONGENITAL BLOOD VESSEL MALFORMATION; CONTROLLED STUDY; CYTOARCHITECTURE; DEGENERATIVE DISEASE; ENDOTHELIUM CELL; EXON; FEMALE; GENE MUTATION; GRAY MATTER; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MICROANGIOPATHY; NERVE CELL DIFFERENTIATION; NERVE PROJECTION; PERIVENTRICULAR NODULAR HETEROTOPIA; PRIORITY JOURNAL; PYRAMIDAL NERVE CELL; SUBEPENDYMOMA; WHITE MATTER;

EID: 0036938317     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-002-0594-9     Document Type: Article

References (47)

1. Akima M, Nonaka H, Kagesawa M, Tanaka K (1986) A study on the microvasculature of the cerebral cortex. Fundamental architecture and its senile change in the frontal cortex. Lab Invest 55:482-489
2. Barkovich AJ, Kjos BO (1992) Gray matter heterotopia: MR characteristics and correlation with developmental and neurologic manifestations. Radiology 182:493-499
3. Barkovich AJ, Jackson DE Jr, Boyer RS (1989) Band heterotopias: a newly recognized neuronal migration anomaly. Radiology 171:455-458
4. Borgatti R, Zucca C, Piccinelli P, Radice L, Tofani A, Benti R, Triulzi F (2000) Unilateral periventricular nodular heterotopia associated with diffuse areas of cerebral functional abnormalities. J Child Neurol 15:622-626
5. Bugge TH, Xiao Q, Kombrinck KW, Flick MJ, Holmbäck K, Danton MJS, Colbert MC, Witte DP, Fujikawa K, Davie EW, Degen JL (1996) Fatal embryonic bleeding events in mice lacking tissue factor, the cell-associated initiator of blood coagulation. Proc Natl Acad Sci USA 93:6258-6263
6. Caley DW, Maxwell DS (1970) Development of the blood vessels and extracellular spaces during postnatal maturation of rat cerebral cortex. J Comp Neurol 138:31-48
7. Canapicchi R, Padolecchia R, Puglioli M, Collavoli P, Marcella F, Valleriani AM (1990) Heterotopic gray matter. Neuroradiological aspects and clinical correlations. J Neuroradiol 17:277-287
8. Cho WH, Seidenwurm D, Barkovich AJ (1999) Adult-onset neurologic dysfunction associated with cortical malformations. AJNR 20:1037-1043
9. Dobyns WB, Andermann E, Andermann F, Czapamsky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard J-M, Radtke RA, Ross ME, Tampieri D, Walsh CA, Truwit CL (1996) X-linked malformations of neuronal migration. Neurology 47:331-339
10. Dobyns WB, Guerrini R, Czapansky-Beilman DK, Pierpont MEM, Breningstall G, Yock DH, Bonanni P, Truwit CL (1997) Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology 49:1042-1047
11. Dubeau F, Tampieri D, Lee N, Andermann E, Carpenter S, Leblanc R, Olivier A, Radtke R, Villemure JG, Andermann F (1995) Periventricular and subcortical nodular heterotopia. A study of 33 patients. Brain 118:1273-1287
12. Eksioglu YZ, Scheffer IE, Cardenas P, Knoll J, DiMario F, Ramsby G, Berg M, Kamuro K, Berkovic SF, Duyk M, Parisi J, Huttenlocher PR, Walsh CA (1996) Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 16:77-87
13. Fink JM, Dobyns WB, Guerrini R, Hirsch BA (1997) Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. Am J Hum Genet 61:379-387
14. Fowler M, Dow R, White TA, Greer CH (1972) Congenital hydrocephalus-hydrencephaly in five siblings, with autopsy studies: a new disease. Dev Med Child Neurol 14:173-188
15. Fox JW, Walsh CA (1999) Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex. Am J Hum Genet 65:19-24
16. Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA (1998) Mutaions in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21:1315-1325
17. Friede RL (1989) Developmental neuropathology, 2nd edn. Springer, New York Berlin Heidelberg, pp 333-335
18. Glogauer M, Arora P, Chou D, Jamney PA, Downey GP, McCulloch CAG (1998) The role of actin-binding protein 280 in integrin-dependent mechanoprotection. J Biol Chem 273:1689-1698
19. Gorlin J, Yamin R, Egan S, Stewart M, Sossel T, Kwiatkowski D, Hartwig I (1990) Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring. J Cell Biol 111:1089-1105
20. Hannan AJ, Servotte S, Katsnelson A, Sisodiya S, Blakemore C, Squier M, Molnár Z (1999) Characterization of nodular heterotopia in children. Brain 122:219-238
21. Hartwig J (1992) Mechanisms of actin rearrangements mediating platelet activation. J Cell Biol 106:1525-1538
22. Hartwig J, Shevlin P (1986) The architecture of actin filaments and the ultrastructural location of actin-binding protein in the periphery of lung macrophages. J Cell Biol 103:1007-1020
23. Hartwig J, Tyler J, Stossel T (1980) Actin-binding protein promotes the bipolar and perpendicular branching of actin filaments. J Cell Biol 87:841-848
24. Hassler O (1965) Vascular changes in senile brains. A microangiographic study. Acta Neuropathol (Berl) 5:40-53
25. Hassler O (1967) Arterial deformities in senile brains. The occurrence of the deformities in a large autopsy series and some aspects of their functional significance. Acta Neuropathol (Berl) 8:219-229
26. Herman IM, D'Amore PA (1985) Microvascular pericytes contain muscle and nonmuscle actins. J Cell Biol 101:43-52
27. Huttenlocher PR, Taravath S, Mojtahedi S (1994) Periventricular heterotopia and epilepsy. Neurology 44:51-55
28. Jan MMS (1999) Outcome of bilateral periventricular nodular heterotopia in monozygotic twins with megalencephaly. Dev Med Child Neurol 41:486-488
29. Li LM, Dubeau F, Andermann F, Fish DR, Watson C, Cascino GD, Berkovic SF, Moran N, Duncan JS, Olivier A, Leblanc R, Harkness W (1997) Periventricular nodular heterotopia and intractable temporal epilepsy: poor outcome after temporal lobe resection. Ann Neurol 41:662-668
30. Matsudaira P (1994) Actin crosslinking proteins at the leading edge. Semin Cell Biol 5:165-174
31. Mischel PS, Nguyen LP, Vinters HV (1995) Cerebral cortical dysplasia associated with pediatric epilepsy. Review of neuropathologic features and proposal for a grading system. J Neuropathol Exp Neurol 54:137-153
32. Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R (2002) Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. Neurology 58:916-921
33. Oda T, Nagai Y, Fujimoto S, Sobajima H, Kobayashi M, Togari H, Wada Y (1993) Hereditary nodular heterotopia accompanied by mega cisterna magna. Am J Med Genet 47:268-271
34. Ott I, Fischer EG, Miyagi Y, Mueller BM, Ruf W (1998) A role for tissue factor in cell adhesion and migration mediated by interaction with actin-binding protein 280. J Cell Biol 140:1421-1453
35. Park S-H, Pepkowitz SH, Kerfoot C, De Rosa MJ, Poukens V, Wienecke R, DeClue JE, Vinters HV (1997) Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study. Acta Neuropathol 94:180-186
36. Poussaint TY, Fox JW, Dobyns WB, Radtke R, Scheffer IE, Berkovic SF, Barnes PD, Huttenlocher PR, Walsh CA (2000) Periventricular nodular heterotopia in a patient with filamin-1 gene mutations: neuroimaging findings. Pediatr Radiol 30:748-755
37. Raymond AA, Fish DR, Stevens JM, Sisodiya SM, Alsanjari N, Shorvon SD (1994) Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy. J Neurol Neurosurg Psychiatry 57:1195-1202
38. Santi MR, Golden JA (2001) Periventricular heterotopia may result from radial glial fiber disruption. J Neuropathol Exp Neurol 60:856-862
39. Schottler F, Couture D, Rao A, Kahn H, Lee KS (1998) Subcortical connections of normotopic and heterotopic neurons in sensory and motor cortices of the tish mutant rat. J Comp Neurol 395:29-42
40. Sheen VL, Dixon PH, Hong SE, Fox JW, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro, K, DiMario F, Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, Walsh CA (2001) Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet 10:1775-1783
41. Sisodiya SM, Free SL, Thom M, Everitt AE, Fish DR, Shorvon SD (1999) Evidence for nodular epileptogenicity and gender differences in periventricular nodular heterotopia. Neurology 52:336-341
42. Sisodiya SM, Free SL, Duncan IS, Stevens JM (2000) Bilateral periventricular and subcortical heterotopia in a man with refractory epilepsy. Epilepsia 41:352-354
43. Smith AS, Weinstein MA, Quencer RM, Muroff LR, Stonesifer KJ, Li FC, Wener L, Soloman MA, Cruse RP, Rosenberg LH, Berke JP (1988) Association of heterotopic gray matter with seizures: MR imaging. Work in progress. Radiology 168:195-198
44. Spreafico R, Battaglia G, Arcelli P, Andermann F, Dubeau F, Palmini A, Olivier A, Villemure J-G, Tampieri D, Avanzini G, Avoli M (1998) Cortical dysplasia. An immunocytochemical study of three patients. Neurology 50:27-36
45. Taylor DC, Falconer MA, Bruton CJ, Corsellis JAN (1971) Focal dysplasia of the cerebral cortex in epilepsy. J Neurol Neurosurg Psychiatry 34:369-387
46. Vinters HV, Park SH, Johnson MW, Mischel PS, Catania M, Kerfoot C (1999) Cortical dysplasia, genetic abnormalities and neurocutaneous syndrome. Dev Neurosci 21:248-259
47. Watson C, Nielsen SL, Cobb C, Burgerman R, Williamson B (1996) Pathological grading system for hippocampal sclerosis: correlation with magnetic resonance imaging-based volume measurements of the hippocampus. J Epilepsy 9:56-64