Focal cortical dysplasia: a review of pathological features, genetics, and surgical outcome

Wang, Vincent Y.; Chang, Edward F.; Barbaro, Nicholas M.

doi:10.3171/foc.2006.20.1.8

Cited by 69 publications

(24 citation statements)

References 53 publications

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“…In patients with histologically proven FCD of Taylor's balloon cell type, a mutational analysis of the TSC1 gene has been described which indicates a pathogenic relationship to TSC [21]. Another concept of a possible genetic pathway assumes subtle polymorphism mutations in the regulatory ele- of single genes or, alternatively, involvement of multiple genes [22]. Further genetic investigations are required in familial occurrence of FCD.…”

Section: Discussionmentioning

confidence: 99%

MRI Postprocessing Helps to Detect Focal Cortical Dysplasia in Siblings

Poepel

Vogt²,

Huppertz

2008

Clin Neuroradiol

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Correspondence Neuroradiology Clinical IntroductionFocal cortical dysplasia (FCD) is a significant cause of medically refractory epilepsy and increasingly recognized in formerly cryptogenic cases. It is a malformation of cortical development (MCD) due to abnormal cell proliferation and/or abnormal cortical organization during pregnancy and can be classified according to histopathologic criteria with respect to changes in different stages of cortical development. The best correlation between histopathologic criteria, magnetic resonance image (MRI) findings and genetic findings are known for FCD of Taylor's balloon cell type [1,2]. MRI features of FCD include increased cortical thickness, abnormal gyral and sulcal contours, disturbed differentiation of the gray-white matter interface, and hyperintense signal in T2-weighted images [3]. However, in subtle cases, a correct diagnosis by visual evaluation of MRI alone remains difficult. There exist several image postprocessing strategies to facilitate lesion detection such as curvilinear reformatting of three-dimensional MRI [4,5], quantifying the regional distribution of gray and white matter [6], statistical parametric mapping [7], measuring the thickness of cerebral cortex [8], autoblock analysis [9], texture or morphometric analysis [10][11][12][13][14]. MRI postprocessing based on morphometric analysis helps to detect and to delineate FCD by generating new three-dimensional maps which characterize and highlight different features of FCD, i.e., abnormal thickness of the cortical ribbon, abnormal extension of gray matter into the white matter, and blurring of the graywhite matter junction [10][11][12]15]. In several forms of MCD such as lissencephaly, subcortical band heteroto-

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Section: Discussionmentioning

confidence: 99%

MRI Postprocessing Helps to Detect Focal Cortical Dysplasia in Siblings

Poepel

Vogt²,

Huppertz

2008

Clin Neuroradiol

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“…In these cases, the lesion may be clinically silent, only discovered at autopsy, or there may be some form of cognitive impairment but no epilepsy (Palmini et al 2004;Wang et al 2006). In epilepsy samples, although the numbers vary due to the described heterogeneity in definitions, as well as research sampling biases and other factors, FCD is identified in as many as one quarter of patients with focal seizures (Kuzniecky et al 1993).…”

Section: Malformations Of Cortical Development (Mcd)mentioning

confidence: 97%

Neuropsychological Features of Lesion-related Epilepsy in Adults: An Overview

Morrison

Nakhutina

2007

Neuropsychol Rev

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Lesional epilepsy is thought to be a direct consequence of focal brain lesions of dysgenetic, neoplastic, vascular, or traumatic origin. It has been estimated that at least half of all epilepsies are the result of such lesions. The current discussion includes an overview of the cognitive and behavioral presentations in adults with epilepsy secondary to focal pathology. The neuropsychological presentation in this population is influenced by many factors, including the location and nature of the underlying lesion, seizure characteristics, the effects of treatment, and patient variables. Few studies attempt to disentangle the specific contributions of these variables to cognitive performance. However, where available studies examining the separable effects of seizure-related variables on cognitive functioning in individuals with lesional epilepsy are also reviewed. This overview includes a discussion of focal malformations of cortical and vascular development and select foreign tissue and acquired lesions.

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“…32 The authors of a study that included adult patients demonstrated a mean epilepsy duration of 21 years, with mean age at surgery of 28 years. 53 In their surgical series, Wang et al 63 showed an overall postoperative seizure freedom or reduction in frequency rate of Ն 70% in 58% (range 33-89%) of their patients with FCD. In 2 long-term prospective studies, the rate of seizure freedom was Ͻ 50%, which suggests an overall decline in the rate of long-term seizure control.…”

Section: Seizure Outcome After Surgerymentioning

confidence: 98%

Surgical treatment of intractable epilepsy associated with focal cortical dysplasia

Diaz¹,

Sherman²,

Hader³

2008

FOC

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Focal cortical dysplasias (FCDs) are congenital malformations of cortical development that are a frequent cause of refractory epilepsy in both children and adults. With advances in structural and functional neuroimaging, these lesions are increasingly being identified as a cause of intractable epilepsy in patients undergoing surgical management for intractable epilepsy. Comprehensive histological classification of FCDs with the establishment of uniform terminology and reproducible pathological features has aided in our understanding of FCDs as an epilepsy substrate. Complete resection of FCDs and the associated epileptogenic zone can result in a good surgical outcome in the majority of patients.

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Focal cortical dysplasia: a review of pathological features, genetics, and surgical outcome

Cited by 69 publications

References 53 publications

MRI Postprocessing Helps to Detect Focal Cortical Dysplasia in Siblings

MRI Postprocessing Helps to Detect Focal Cortical Dysplasia in Siblings

Neuropsychological Features of Lesion-related Epilepsy in Adults: An Overview

Surgical treatment of intractable epilepsy associated with focal cortical dysplasia

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