"Tripla corteccia" e agenesia del corpo calloso associate a delezione del cromosoma Xq22.3

J. Galli; L. Pinelli; P. Accorsi; P. Finelli; A. Tiberti; L. Tassi; L. Giordano

"Tripla corteccia" e agenesia del corpo calloso associate a delezione del cromosoma Xq22.3

Translated title of the contribution: "Triple cortex" and corpus callosum agenesis associated with a deletion on chromosome Xq22.3

J. Galli, L. Pinelli, P. Accorsi, P. Finelli, A. Tiberti, L. Tassi, L. Giordano

Fondazione Istituto Auxologico Italiano

Research output: Contribution to journal › Article › peer-review

Abstract

We describe a 26-year-old girl with intractable focal epilepsy, spastic tetraparesis, severe mental retardation, agenesis of the corpus callosum and two subcortical bands of heterotopic neurons (triple cortex?). The array-CGH analysis showed a deleted chromosomal segment on Xq22.3 that contains the PAK3 gene, which is involved in synapse formation and related to cognitive deficit, 3 and part of DCX gene that causes X-linked lissencephaly or subcortical band heterotopia1,2. Our study appears to be the first work in literature that describes this type of brain malformation. The extreme complexity of phenotype (clinical pictures and neuroimaging) in our patient could be explained by the synergic effect and combined loss of two genes.

Translated title of the contribution	"Triple cortex" and corpus callosum agenesis associated with a deletion on chromosome Xq22.3
Original language	Italian
Pages (from-to)	171-172
Number of pages	2
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	144
Publication status	Published - May 2012

ASJC Scopus subject areas

Clinical Neurology

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abstract = "We describe a 26-year-old girl with intractable focal epilepsy, spastic tetraparesis, severe mental retardation, agenesis of the corpus callosum and two subcortical bands of heterotopic neurons (triple cortex?). The array-CGH analysis showed a deleted chromosomal segment on Xq22.3 that contains the PAK3 gene, which is involved in synapse formation and related to cognitive deficit, 3 and part of DCX gene that causes X-linked lissencephaly or subcortical band heterotopia1,2. Our study appears to be the first work in literature that describes this type of brain malformation. The extreme complexity of phenotype (clinical pictures and neuroimaging) in our patient could be explained by the synergic effect and combined loss of two genes.",

keywords = "DCX gene, PAK3 gene, Subcortical band heterotopia",

author = "J. Galli and L. Pinelli and P. Accorsi and P. Finelli and A. Tiberti and L. Tassi and L. Giordano",

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month = may,

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AU - Galli, J.

AU - Pinelli, L.

AU - Accorsi, P.

AU - Finelli, P.

AU - Tiberti, A.

AU - Tassi, L.

AU - Giordano, L.

PY - 2012/5

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N2 - We describe a 26-year-old girl with intractable focal epilepsy, spastic tetraparesis, severe mental retardation, agenesis of the corpus callosum and two subcortical bands of heterotopic neurons (triple cortex?). The array-CGH analysis showed a deleted chromosomal segment on Xq22.3 that contains the PAK3 gene, which is involved in synapse formation and related to cognitive deficit, 3 and part of DCX gene that causes X-linked lissencephaly or subcortical band heterotopia1,2. Our study appears to be the first work in literature that describes this type of brain malformation. The extreme complexity of phenotype (clinical pictures and neuroimaging) in our patient could be explained by the synergic effect and combined loss of two genes.

AB - We describe a 26-year-old girl with intractable focal epilepsy, spastic tetraparesis, severe mental retardation, agenesis of the corpus callosum and two subcortical bands of heterotopic neurons (triple cortex?). The array-CGH analysis showed a deleted chromosomal segment on Xq22.3 that contains the PAK3 gene, which is involved in synapse formation and related to cognitive deficit, 3 and part of DCX gene that causes X-linked lissencephaly or subcortical band heterotopia1,2. Our study appears to be the first work in literature that describes this type of brain malformation. The extreme complexity of phenotype (clinical pictures and neuroimaging) in our patient could be explained by the synergic effect and combined loss of two genes.

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KW - PAK3 gene

KW - Subcortical band heterotopia

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