MRI Characterization and Longitudinal Study of Focal Cerebellar Lesions in a Young Tuberous Sclerosis Cohort

Vaughn, Jennifer; Hagiwara, Mari; Katz, Joel S.; Roth, Jonathan; Devinsky, Orrin; Weiner, Howard L.; Milla, Sarah Sarvis

doi:10.3174/ajnr.a3260

Cited by 52 publications

(66 citation statements)

References 19 publications

(30 reference statements)

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“…The majority show low T1 and bright T2 signal. Approximately 30-50% are calcified and 30-50% enhance [26]. Most show retraction deformities of the cerebellar tissue.…”

Section: Cerebellar Lesionsmentioning

confidence: 95%

“…Unlike the majority of tubers in the cerebrum, cerebellar tubers tend to change in appearance over time. These changes include change in lesion size (increased or decreased), progressive calcification, new or increased associated retraction deformity, change in FLAIR or T2 signal and change in enhancement (increased or decreased) [26]. Increases in size and enhancement occur mostly in the first decade of life and should not be misdiagnosed as a developing tumor [27].…”

Section: Cerebellar Lesionsmentioning

confidence: 97%

“…Cerebellar lesions are identified in 24-44% of children with tuberous sclerosis complex [26]. Cerebellar tubers are usually wedge-shaped, nodular or demonstrate folia distortion (Fig.…”

Section: Cerebellar Lesionsmentioning

confidence: 99%

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Neuroimaging of phakomatoses: overview and advances

Vézina

2015

Pediatr Radiol

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The phakomatoses are disorders characterized by multiple hamartomas and other congenital malformations affecting mainly the skin and the central and peripheral nervous systems. Many affected individuals have an increased genetic susceptibility to develop malignancies. Imaging is central in the diagnosis of many of the phakomatoses, and MRI is used as a screening tool in many children with known neurocutaneous disorders. This manuscript addresses the three most common (neurofibromatosis type 1, tuberous sclerosis complex, Sturge-Weber syndrome) and focuses on pathophysiological and radiologic insights that have emerged in the last few years.

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“…The majority show low T1 and bright T2 signal. Approximately 30-50% are calcified and 30-50% enhance [26]. Most show retraction deformities of the cerebellar tissue.…”

Section: Cerebellar Lesionsmentioning

confidence: 95%

Section: Cerebellar Lesionsmentioning

confidence: 97%

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Neuroimaging of phakomatoses: overview and advances

Vézina

2015

Pediatr Radiol

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“…Here, lesions are wedge-shaped, hyperintense on T2 and hypo- or isointense on T1. Cerebellar tubers are more likely to enhance, and the enhancement may follow the underlying cerebellar neuroanatomy [35]. …”

Section: Structural Cns Abnormalities In Tsc Conventional Mrimentioning

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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“…Deletion of Tsc1 in purkinje cells has been shown to result in autism-like behaviors independent of seizure, suggesting a direct role of mTOR in autism (18). However, evidence of cerebellar pathology is found in approximately 25% of patients, presenting a discrepancy between the high incidence of autism (19, 20). Therefore, exploring other possible contributing factors is warranted.…”

Section: Introductionmentioning

confidence: 99%

Seizure-dependent mTOR activation in 5-HT neurons promotes autism-like behaviors in mice

McMahon

Yang

et al. 2015

Neurobiology of Disease

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Epilepsy and autism spectrum disorder (ASD) are common comorbidities of one another. Despite the prevalent correlation between the two disorders, few studies have been able to elucidate a mechanistic link. We demonstrate that forebrain specific Tsc1 deletion in mice causes epilepsy and autism-like behaviors, concomitant with disruption of 5-HT neurotransmission. We find that epileptiform activity propagates to the raphe nuclei, resulting in seizure-dependent hyperactivation of mTOR in 5-HT neurons. To dissect whether mTOR hyperactivity in 5-HT neurons alone was sufficient to recapitulate an autism-like phenotype we utilized Tsc1flox/flox;Slc6a4-cre mice, in which mTOR is restrictively hyperactivated in 5-HT neurons. Tsc1flox/flox;Slc6a4-cre mice displayed alterations of the 5-HT system and autism-like behaviors, without causing epilepsy. Rapamycin treatment in these mice was sufficient to rescue the phenotype. We conclude that the spread of seizure activity to the brainstem is capable of promoting hyperactivation of mTOR in the raphe nuclei, which in turn promotes autism-like behaviors. Thus our study provides a novel mechanism describing how epilepsy can contribute to the development of autism-like behaviors, suggesting new therapeutic strategies for autism.

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MRI Characterization and Longitudinal Study of Focal Cerebellar Lesions in a Young Tuberous Sclerosis Cohort

Cited by 52 publications

References 19 publications

Neuroimaging of phakomatoses: overview and advances

Neuroimaging of phakomatoses: overview and advances

Diffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions

Seizure-dependent mTOR activation in 5-HT neurons promotes autism-like behaviors in mice

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