Familial Perisylvian Polymicrogyria: A New Familial Syndrome Of Cortical Maldevelopment

dc.creatorGuerreiro M.M.
dc.creatorAndermann E.
dc.creatorGuerrini R.
dc.creatorDobyns W.B.
dc.creatorKuzniecky R.
dc.creatorSilver K.
dc.creatorVan Bogaert P.
dc.creatorGillain C.
dc.creatorDavid P.
dc.creatorAmbrosetto G.
dc.creatorRosati A.
dc.creatorBartolomei F.
dc.creatorParmeggiani A.
dc.creatorPaetau R.
dc.creatorSalonen O.
dc.creatorIgnatius J.
dc.creatorBorgatti R.
dc.creatorZucca C.
dc.creatorBastos A.C.
dc.creatorPalmini A.
dc.creatorFernandes W.
dc.creatorMontenegro M.A.
dc.creatorCendes F.
dc.creatorAndermann F.
dc.date2000
dc.date2015-06-30T19:49:16Z
dc.date2015-11-26T14:46:46Z
dc.date2015-06-30T19:49:16Z
dc.date2015-11-26T14:46:46Z
dc.date.accessioned2018-03-28T21:56:44Z
dc.date.available2018-03-28T21:56:44Z
dc.identifier
dc.identifierAnnals Of Neurology. , v. 48, n. 1, p. 39 - 48, 2000.
dc.identifier3645134
dc.identifier10.1002/1531-8249(200007)48:1<39::AID-ANA7>3.0.CO;2-X
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-0033930097&partnerID=40&md5=faca78f9ccda1452525d9e31614fb00f
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/107094
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/107094
dc.identifier2-s2.0-0033930097
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1252991
dc.descriptionTwo familial X-linked dominant syndromes of cortical maldevelopment have recently been described: double cortex/lissencephaly syndrome and bilateral periventricular nodular heterotopia. We report on 12 kindreds with familial perisylvian polymicrogyria (FPP) presenting at 10 centers, examine the clinical presentation in these familial cases, and propose a possible mode of inheritance. The clinical and radiological pattern was variable among the 42 patients, with clinical differences among the families and even within members of the same family. Pseudobulbar signs, cognitive deficits, epilepsy, and perisylvian abnormalities on imaging studies were not found in all patients. When present, they displayed a spectrum of severity. The only clear correlation in this study was between bilateral imaging findings and abnormal tongue movements and/or pronounced dysarthria. Most of the families provided evidence suggestive of, or compatible with, X-linked transmission. On the other hand, the pedigrees of 2 families ruled out X-linked inheritance. The most likely mode of inheritance for these 2 families was autosomal dominant with decreased penetrance; however, autosomal recessive inheritance with pseudodominance could not be ruled out in 1 family. We conclude that FPP appears to be genetically heterogeneous. However, most of the families probably represent a third previously undescribed X-linked syndrome of cortical maldevelopment.
dc.description48
dc.description1
dc.description39
dc.description48
dc.descriptionAndermann, E., Andermann, F., X-linked inheritance in subcortical band and periventricular nodular heterotopia: Familial occurrence of bilateral perisylvian polymicrogyria (1996) Dysplasias of Cerebral Cortex and Epilepsy, pp. 11-15. , Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P, eds. Philadelphia: Lippincott-Raven
dc.descriptionDobyns, W.B., Andermann, E., Andermann, F., X-linked malformations of neuronal migration (1996) Neurology, 47, pp. 331-339
dc.descriptionWalsh, C.A., Genetic malformations of the human cerebral cortex (1999) Neuron, 23, pp. 19-29
dc.descriptionPinard, J.-M., Motte, J., Chiron, C., Subcortical laminar heterotopia and lissencephaly in two families: A single X-linked dominant gene (1994) J Neurol Neurosurg Psychiatr, 57, pp. 914-920
dc.descriptionEksioglu, Y.Z., Scheffer, I.E., Cardenas, P., Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development (1996) Neuron, 16, pp. 77-87
dc.descriptionRoss, M.E., Allen, K.M., Srivastava, A.K., Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): A gene causing neuronal migration defects in human brain (1997) Hum Mol Genet, 6, pp. 555-562
dc.descriptionGleeson, J.G., Allen, K.M., Fox, J.W., Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein (1998) Cell, 92, pp. 63-72
dc.descriptionFox, J.W., Lamperti, E.D., Eksioglu, Y.Z., Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia (1998) Neuron, 21, pp. 1315-1325
dc.descriptionOekonamakis, M., Uber umschriebene, mikrogyrische Verbildungen an der Grosshirnoberflache und ihre Beziehung zur Porencephalie (1905) Arch Psychiatrie Nervenkrank, 39, p. 676
dc.descriptionBordarier, C., Robain, O., Microgyric and necrotic cortical lesions in twin fetuses: Original cerebral damage consecutive to twinning? (1992) Brain Dev, 14, pp. 174-178
dc.descriptionLarroche, J.C., Girard, N., Narcy, F., Fallet, C., Abnormal cortical plate (polymicrogyria), heterotopias and brain damage in monozygous twins (1994) Biol Neonate, 65, pp. 343-352
dc.descriptionSugama, S., Kusano, K., Monozygous twin with polymicrogyria and normal co-twin (1994) Pediatr Neurol, 11, pp. 62-63
dc.descriptionVan Bogaert, P., Donner, C., David, P., Congenital bilateral perisylvian syndrome in a monozygotic twin with intra-uterine death of the co-twin (1996) Dev Med Child Neurol, 38, pp. 166-171
dc.descriptionFoix, M.C., Chavany, J.A., Marie, J., Diplégie facio-linguo-masticatrice d'origine cortico-sous-corticale sans paralysie des membres (1926) Rev Neurol, 1, pp. 214-219
dc.descriptionGraff-Radford, N.R., Bosch, E.P., Stears, J.C., Tranel, D., Developmental Foix-Chavany-Marie syndrome in identical twins (1986) Ann Neurol, 20, pp. 632-635
dc.descriptionKuzniecky, R., Andermann, F., Tampieri, D., Bilateral central macrogyria: Epilepsy, pseudobulbar palsy, and mental retardation - A recognizable neuronal migration disorder (1989) Ann Neurol, 25, pp. 547-554
dc.descriptionKuzniecky, R., Andermann, F., Guerrini, R., Congenital bilateral perisylvian syndrome: Study of 31 patients (1993) Lancet, 341, pp. 608-612
dc.descriptionKuzniecky, R., Andermann, F., The congenital bilateral perisylvian syndrome: Imaging findings in a multicenter study (1994) AJNR, 15, pp. 139-144
dc.descriptionKuzniecky, R., Andermann, F., Guerrini, R., The epileptic spectrum in the congenital bilateral perisylvian syndrome (1994) Neurology, 44, pp. 379-385
dc.descriptionKuzniecky, R., Andermann, F., Guerrini, R., Infantile spasms: An early epileptic manifestation in some patients with the congenital bilateral perisylvian syndrome (1994) J Child Neurol, 9, pp. 420-423
dc.descriptionRobinson, R.O., Familial schizencephaly (1991) Dev Med Child Neurol, 33, pp. 1010-1014
dc.descriptionProposal for classification of epilepsies and epileptic syndromes (1985) Epilepsia, 26, pp. 268-278
dc.descriptionWechsler, D., (1981) Wechsler Adult Intelligence Scale, Revised, , New York: Psychological Corporation
dc.descriptionWechsler, D., (1980) Wechsler Intelligence Scale for Children, Revised, , New York: Psychological Corporation
dc.descriptionAndermann, F., Palmini, A., Neuronal migration disorders, tuberous sclerosis, and Sturge-Weber syndrome (1992) Epilepsy Surgery, pp. 203-211. , Luders HO, ed. New York: Raven Press
dc.descriptionBecker, P.S., Dixon, A.M., Troncoso, J.C., Bilateral opercular polymicrogyria (1989) Ann Neurol, 25, pp. 90-92
dc.descriptionGuerrini, R., Dravet, C., Raybaud, C., Neurological findings and seizure outcome in children with bilateral opercular macrogyric-like changes detected by MRI (1992) Dev Med Child Neurol, 34, pp. 694-705
dc.descriptionGropman, A.L., Barkovich, A.J., Vezina, L.G., Pediatric congenital bilateral perisylvian syndrome: Clinical and MRI features in 12 patients (1997) Neuropediatrics, 28, pp. 198-203
dc.descriptionWorster-Drought, C., Speech disorders in children of school age (1953) Med Press, 230, pp. 419-426
dc.descriptionWorster-Drought, C., Congenital suprabulbar paresis (1956) J Laryngol, 70, pp. 453-463
dc.descriptionWorster-Drought, C., Speech disorders in children (1968) Develop Med Child Neurol, 10, pp. 427-440
dc.descriptionMiller, S.P., Shevell, S., Rosenblatt, B., Congenital bilateral perisylvian polymicrogyria presenting as congenital hemiplegia (1998) Neurology, 50, pp. 1866-1869
dc.descriptionRemillard, G., Andermann, F., Zifkin, B.G., Eating epilepsy: A study of 10 surgically treated patients suggests the presence of 2 separate syndromes (1989) Médcine et Hygiène, pp. 289-300. , Beaumanoir A, Gastaut H, Naquet R, eds. Reflex seizures and reflex epilepsies, Geneva: Éditions
dc.descriptionCosta, J.C., Palmini, A., Andermann, F., Epilepsia partialis continua associated with rolandic cortical dysplasia delineation of a specific subsyndrome (1996) Epilepsia, 37 (SUPPL. 5), p. 37. , Abstract
dc.descriptionPaglioli-Neto, E., Palmini, A., Costa, J.C., Histopathological pattern and putative pathogenetic mechanisms determine the degree of epileptogenicity in localized cortical dysplastic lesions (1996) Epilepsia, 37 (SUPPL. 5), p. 142. , Abstract
dc.descriptionAmbrosetto, G., Antonini, L., Anterior corpus callosotomy: Effects in a patient with congenital bilateral perisylvian syndrome and oromotor seizures (1995) Ital J Neurol Sci, 16, pp. 311-314
dc.descriptionOguni, H., Olivier, A., Andermann, F., Comair, J., Anterior callosotomy in the treatment of medically intractable epilepsies: A study of 43 patients with a mean follow-up of 39 months (1991) Ann Neural, 30, pp. 357-364
dc.descriptionFerrie, C.D., Jackson, G.D., Giannakodimos, S., Panayiotopoulos, C.P., Posterior agyria-pachygyria with polymicrogyria: Evidence for an inherited neuronal migration disorder (1995) Neurology, 45, pp. 150-153
dc.descriptionBorgatti, R., Zucca, C., Triulzi, F., Bilateral perisylvian polymicrogyria: Descriptions of two families suggestive for an X-linked transmission (1997) Symposium: Abnormal Cortical Development and Epilepsy: from Basic to Clinical Science, , Venice: San Servolo, Abstract
dc.descriptionBorgatti, R., Triulzi, F., Zucca, C., Bilateral perisylvian polymicrogyria in three generations (1999) Neurology, 52, pp. 1910-1913
dc.descriptionFisher, S.E., Vargha-Khadem, F., Watkins, K., Localisation of a gene implicated in a severe speech and language disorder (1998) Nat Genet, 18, pp. 168-170
dc.descriptionGranata, T., Farina, L., Faiella, A., Familial schizencephaly associated with EMX2 mutation (1997) Neurology, 48, pp. 1403-1406
dc.descriptionBarkovich, A.J., Kjos, B., Schizencephaly: Correlation of clinical findings with MR characteristics (1992) AJNR, 13, pp. 85-94
dc.descriptionBarkovich, A.J., Gressens, P., Evrard, P., Formation, maturation, and disorders of brain neocortex (1992) AJNR, 13, pp. 423-446
dc.descriptionZupanc, M.L., Neuroimaging in the evaluation of children and adolescents with intractable epilepsy: I. Magnetic resonance imaging and the substrates of epilepsy (1997) Pediatr Neurol, 17, pp. 19-26
dc.descriptionBastos, A., Korah, I., Cendes, F., Curvilinear reconstruction of 3D magnetic resonance imaging in patients with partial epilepsy: A pilot study (1995) Magn Reson Imag, 13, pp. 1107-1112
dc.descriptionBastos, A.C., Comeau, R.M., Andermann, F., Diagnosis of subtle focal dysplastic lesions: Curvilinear reformatting from three-dimensional magnetic resonance imaging (1999) Ann Neurol, 46, pp. 88-94
dc.languageen
dc.publisher
dc.relationAnnals of Neurology
dc.rightsfechado
dc.sourceScopus
dc.titleFamilial Perisylvian Polymicrogyria: A New Familial Syndrome Of Cortical Maldevelopment
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución