Malformations of cortical development in neurofibromatosis type 1

Neurology

Volumn 61, Issue 12, 2003, Pages 1799-1801

  Balestri, Paolo ^a   Vivarelli, R ^a   Grosso, S ^a   Santori, L ^a   Farnetani, M A ^a   Galluzzi, P ^b   Vatti, G P ^a   Calabrese, F ^a   Morgese, G ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROFIBROMIN;

ADULT; ARTICLE; BRAIN CORTEX; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CASE REPORT; CHILD; CORTICAL DYSPLASIA; DISEASE SEVERITY; FEMALE; GRAY MATTER; HUMAN; MALE; MENTAL DISEASE; MICROGYRIA; NERVOUS SYSTEM DEVELOPMENT; NEUROFIBROMATOSIS; PACHYGYRIA; PATHOGENESIS; PHAKOMATOSIS; PRIORITY JOURNAL;

EID: 0347364661     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000099080.90726.BA     Document Type: Article

References (10)

1. Riccardi VM, ed. Neurofibromatosis. Phenotype, Natural History, and Pathogenesis. Baltimore: John Hopkins University Press, 1992.
2. National Institute of Health Consensus Development Conference. Neurofibromatosis. Conference statement. Arch Neurol 1988;45:575-578.
3. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. Classification system for malformations of cortical development: update 2001. Neurology 2001;57:2168-2178.
4. Rosman NP, Pearce J. The brain in multiple neurofibromatosis (von Recklinghausen's disease): a suggested neuropathological basis for the associated mental defect. Brain 1967;14:829-840.
5. Cusmai R, Curatolo P, Mangano S, Cheminal R, Echenne B. Hemimegalencephaly and neurofibromatosis. Neuropediatrics 1990;21:179-182.
6. Kato M, Takashima S, Houdou S, et al. Cerebellar leptomeningeal heterotopia in neurofibromatosis type 1. Clin Neuropathol 1995;14:175-178.
7. Gutmann DH, Geist RT, Wright DE, Snider WD. Expression of the neurofibromatosis 1 (NF1) isoforms in developing and adult rat tissues. Cell Growth Differ 1995;6:315-323.
8. Li C, Cheng Y, Gutmann DA, et al. Differential localization of the neurofibromatosis 1 (NF1) gene product neurofibromin, with the F-actin or microtubule cytoskeleton during differentiation of telencephalic neurons. Dev Brain Res 2001;130:231-248.
9. Lakkis MM, Golden JA, O'Shea KS, et al. Neurofibromin deficiency in mice causes exencephaly is a modifier for Splotch neural tube defects. Dev Biol 1999;212:80-92.
10. Zhu Y, Romero MI, Ghosh P, et al. Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain. Genes Dev 2001;15:859-876.