Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment

M. M. Guerreiro, E. Andermann, R. Guerrini, W. B. Dobyns, R. Kuzniecky, K. Silver, P. Van Bogaert, C. Gillain, P. David, G. Ambrosetto, A. Rosati, F. Bartolomei, A. Parmeggiani, R. Paetau, O. Salonen, J. Ignatius, R. Borgatti, C. Zucca, A. C. Bastos, A. PalminiW. Fernandes, M. A. Montenegro, F. Cendes, F. Andermann

Research output: Contribution to journalArticle

134 Scopus citations

Abstract

Two 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.

Original languageEnglish (US)
Pages (from-to)39-48
Number of pages10
JournalAnnals of Neurology
Volume48
Issue number1
DOIs
StatePublished - 2000
Externally publishedYes

Fingerprint Dive into the research topics of 'Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment'. Together they form a unique fingerprint.

  • Cite this

    Guerreiro, M. M., Andermann, E., Guerrini, R., Dobyns, W. B., Kuzniecky, R., Silver, K., Van Bogaert, P., Gillain, C., David, P., Ambrosetto, G., Rosati, A., Bartolomei, F., Parmeggiani, A., Paetau, R., Salonen, O., Ignatius, J., Borgatti, R., Zucca, C., Bastos, A. C., ... Andermann, F. (2000). Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment. Annals of Neurology, 48(1), 39-48. https://doi.org/10.1002/1531-8249(200007)48:1<39::AID-ANA7>3.0.CO;2-X