Associations between electroencephalographic and magnetic resonance imaging findings in tuberous sclerosis complex

Gallagher, Anne; Chu-Shore, Catherine J.; Montenegro, Maria Augusta; Major, Philippe; Costello, Daniel J.; Lyczkowski, David A.; Muzykewicz, David A.; Doherty, Colin; Thiele, Elizabeth A.

doi:10.1016/j.eplepsyres.2009.09.001

Cited by 28 publications

(17 citation statements)

References 27 publications

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“…These recent estimates are drawn from studies with diverse methodologies, including a small study with a robust population-based sampling method of TSC patients from one county in the UK (n ¼ 60), a moderate-sized postal study of pre-selected children with TSC in the UK (n ¼ 265), and retrospective reviews of medical records in hospitals in Ireland (n ¼ 73) and the US (n ¼ 173) in the early to mid2000s 20,55,64,65 . Seizures, particularly severe forms, are prevalent in TSC 61,65,67 . The genetic disorder significantly increases the risk of developing a severe type of seizure called infantile spasm (p50.05) 68 , which may appear in up to 45% of TSC patients 64 .…”

Section: Prevalence Of Tsc Manifestationsmentioning

confidence: 99%

Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review

Hallett¹,

Foster²,

Liu

et al. 2011

Current Medical Research and Opinion

103

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Section: Prevalence Of Tsc Manifestationsmentioning

confidence: 99%

Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review

Hallett¹,

Foster²,

Liu

et al. 2011

Current Medical Research and Opinion

103

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“…Individuals with TSC display lesions (referred to as nodules or hamartomas) in the forebrain, such as the olfactory and basal ganglia structures (Braffman et al, 1992; Cusmai et al, 1990; de León et al, 1988; Gallagher et al, 2009; Inoue et al, 1998; Raznahan et al, 2007; Ridler et al, 2004). Importantly, using neonatal electroporation to delete Tsc1 or express a constitutively active Rheb selectively in NPCs of the SVZ, we also reported the presence of heterotopia along the migratory path to the olfactory and olfactory structures, micronodules in the olfactory bulb, and ectopic neurons in the nucleus accumbens and the cortex (not examined in Rheb condition) (Feliciano et al, 2012; Lafourcade et al, 2013).…”

Section: Olfactory Hamartomas and Ectopic Neuron Differentiationmentioning

confidence: 99%

A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits

Feliciano¹,

Lin²,

Hartman³

et al. 2013

Intl J of Devlp Neuroscience

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Tuberous sclerosis complex (TSC) is an autosomal dominant monogenetic disorder that is characterized by the formation of benign tumors in several organs as well as brain malformations and neuronal defects. TSC is caused by inactivating mutations in one of two genes, TSC1 and TSC2, resulting in increased activity of the mammalian Target of Rapamycin (mTOR). Here, we explore the cytoarchitectural and functional CNS aberrations that may account for the neurological presentations of TSC, notably seizures, hydrocephalus, and cognitive and psychological impairments. In particular, recent mouse models of brain lesions are presented with an emphasis on using electroporation to allow the generation of discrete lesions resulting from loss of heterozygosity during perinatal development. Cortical lesions are thought to contribute to epileptogenesis and worsening of cognitive defects. However, it has recently been suggested that being born with a mutant allele without loss of heterozygosity and associated cortical lesions is sufficient to generate cognitive and neuropsychiatric problems. We will thus discuss the function of mTOR hyperactivity on neuronal circuit formation and the potential consequences of being born heterozygote on neuronal function and the biochemistry of synaptic plasticity, the cellular substrate of learning and memory. Ultimately, a major goal of TSC research is to identify the cellular and molecular mechanisms downstream of mTOR underlying the neurological manifestations observed in TSC patients and identify novel therapeutic targets to prevent the formation of brain lesions and restore neuronal function.

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“…Apparent diffusion coefficient measures of the dominant tuber type confirmed quantitative differences in the subgroups. From the same researchers, again mainly based on conventional imaging, an association between cyst-like tubers (with by definition an exceptional low tissue integrity) and an aggressive seizure phenotype of infantile spasms and medically refractory seizures has been reported [39,41,86]. Thus, the evolution of DTI characteristics of (peri-)tuberal microstructure over time, and the relationship to epileptogenicity and epilepsy severity, are currently being studied in our laboratory.…”

Section: Epilepsy Epilepsy Surgery and Dtimentioning

confidence: 99%

Diffusion Tensor Imaging and Related Techniques In Tuberous Sclerosis Complex: Review and Future Directions

et al. 2013

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In this article, the authors aim to introduce the nonradiologist to diffusion tensor imaging (DTI) and its applications to both clinical and research aspects of tuberous sclerosis complex. Tuberous sclerosis complex is a genetic neurocutaneous syndrome with variable and unpredictable neurological comorbidity that includes refractory epilepsy, intellectual disability, behavioral abnormalities and autism spectrum disorder. DTI is a method for modeling water diffusion in tissue and can noninvasively characterize microstructural properties of the brain. In tuberous sclerosis complex, DTI measures reflect well-known pathological changes. Clinically, DTI can assist with detecting the epileptogenic tuber. For research, DTI has a putative role in identifying potential disease biomarkers, as DTI abnormalities of the white matter are associated with neurocognitive morbidity including autism. If indeed DTI changes parallel phenotypical changes related to the investigational treatment of epilepsy, cognition and behavior with mTOR inhibitors, it will facilitate future clinical trials.

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Associations between electroencephalographic and magnetic resonance imaging findings in tuberous sclerosis complex

Cited by 28 publications

References 27 publications

Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review

Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review

A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits

Diffusion Tensor Imaging and Related Techniques In Tuberous Sclerosis Complex: Review and Future Directions

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