Cerebellar Lesions in Tuberous Sclerosis Complex: Neurobehavioral and Neuroimaging Correlates
Abstract
We assessed the structural and functional imaging features of cerebellar lesions and their neurobehavioral correlates in a large cohort of patients with tuberous sclerosis complex. A consecutive series of 78 patients with tuberous sclerosis complex underwent magnetic resonance imaging (MRI) and positron emission tomography (PET) studies with [ 18 F]fluorodeoxyglucose (FDG) and α-[ 11 C]methyl-L-tryptophan (AMT) as part of their evaluation for epilepsy surgery. Neurobehavioral assessment included the Gilliam Autism Rating Scales (GARS) and the Vineland Adaptive Behavior Scales (VABS). Twenty-one patients (27%) had cerebellar lesions (10 boys; mean age 9 ± 8 years; 9 had right-sided, 10 had left-sided, and 2 had bilateral cerebellar lesions). The lesions showed decreased glucose metabolism (0.79 ± 0.10) and increased (1.04 ± 0.10) AMT uptake compared with the normal (nonlesional) cerebellar cortex. Comparisons between patients with (n = 20) and without (n = 57) a cerebellar lesion on neurobehavioral functioning, controlling for the number and location of cortical tubers, revealed that the cerebellar lesion group had higher overall autistic symptomatology. Within-group analyses of the cerebellar lesion group revealed that children with right-sided cerebellar lesions had higher social isolation and communicative and developmental disturbance compared with children with left-sided cerebellar lesions. The side of the cerebellar lesion was not related to adaptive behavior functioning. These findings provide additional empiric support for a role of the cerebellum in autistic symptomatology. Further investigation of the potential role of the right cerebellum in autism, particularly with regard to the dentatothalamofrontal circuit, is warranted. (J Child Neurol 2006;21:846—851; DOI 10.2310/7010.2006.00192).
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Approximately 40% of Tuberous Sclerosis patients are co-diagnosed with autistic disorder, and those with cerebellar lesions have more severe autistic disorder features than those with lesions restricted to other brain regions.
“Approximately 40% of TS patients are co-diagnosed with AD, and those with cerebellar lesions have more severe AD features than those with lesions restricted to other brain regions [60].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [60]
Cites
Tabachnick, B. G., & Fidell, L. S. (1983) · Cited by 79,888 · see citing works
Positron emission tomographic studies of the cortical anatomy of single-word processing
Petersen, S. E., Fox, P. T., Posner, M. I., Mintun, M., & Raichle, M. E. (1988) · Nature · doi:10.1038/331585a0 · Cited by 2,593 · see citing works
Schmahmann, J. D. (2004) · Journal of Neuropsychiatry · doi:10.1176/jnp.16.3.367 · Cited by 1,442 · see citing works
Attentional Activation of the Cerebellum Independent of Motor Involvement
Allen, G., Buxton, R. B., Wong, E. C., & Courchesne, E. (1997) · Science · doi:10.1126/science.275.5308.1940 · Cited by 785 · see citing works
Schmahmann, J. D., & Pandya, D. N. (1997) · International Review of Neurobiology · doi:10.1016/s0074-7742(08)60346-3 · Cited by 774 · see citing works
Brainstem, cerebellar and limbic neuroanatomical abnormalities in autism
Courchesne, E. (1997) · Current Opinion in Neurobiology · doi:10.1016/s0959-4388(97)80016-5 · Cited by 401 · see citing works
Altered serotonin synthesis in the dentatothalamocortical pathway in autistic boys
Chugani, D. C., Muzik, O., Rothermel, R., Behen, M. E., Chakraborty, P. K., Mangner, T. J., Silva, E. A. D., & Chugani, H. T. (1997) · Annals of Neurology · doi:10.1002/ana.410420420 · Cited by 399 · see citing works
Self-citationDiagnosing Autism: Analyses of Data from the Autism Diagnostic Interview
Lord, C., Pickles, A. R., McLennan, J. D., Rutter, M. L., Bregman, J. D., Folstein, S. E., Fombonne, E. J., Leboyer, M., & Minshew, N. J. (1997) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1025873925661 · Cited by 374 · see citing works
Courchesne, E., Townsend, J., & Saitoh, O. (1994) · Neurology · doi:10.1212/wnl.44.2.214 · Cited by 296 · see citing works
Magnetic resonance imaging of cerebellar–prefrontal and cerebellar–parietal functional connectivity
Allen, G., McColl, R. W., Barnard, H. D., Ringe, W. K., Fleckenstein, J. R., & Cullum, C. M. (2005) · NeuroImage · doi:10.1016/j.neuroimage.2005.06.013 · Cited by 283 · see citing works
Courchesne, E., Saitoh, O., Yeung-Courchesne, R., Press, G. A., Lincoln, A. J., Haas, R. H., & Schreibman, L. (1994) · American Journal of Roentgenology · doi:10.2214/ajr.162.1.8273650 · Cited by 278 · see citing works
Spatial attention deficits in patients with acquired or developmental cerebellar abnormality
Townsend, J., Courchesne, E., Covington, J., Westerfield, M., Harris, N. S., Lyden, P., Lowry, T. P., & Press, G. A. (1999) · The Journal of Neuroscience · doi:10.1523/jneurosci.19-13-05632.1999 · Cited by 272 · see citing works
Chugani, D. C., Chugani, H. T., Muzik, O., Shah, J., Shah, A. K., Canady, A. I., Mangner, T. J., & Chakraborty, P. K. (1998) · Annals of Neurology · doi:10.1002/ana.410440603 · Cited by 256 · see citing works
Self-citationChandana, S. R., Behen, M. E., Juhász, C., Muzik, O., Rothermel, R. D., Mangner, T. J., Chakraborty, P. K., Chugani, H. T., & Chugani, D. C. (2004) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2004.08.002 · Cited by 233 · see citing works
Self-citationAUTISTIC BEHAVIOUR AND ATTENTION DEFICITS IN TUBEROUS SCLEROSIS: A POPULATION‐BASED STUDY
Gillberg, J. C., Gillberg, C., & Ahlsén, G. (1994) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1994.tb11765.x · Cited by 219 · see citing works
A prevalence study of autism in tuberous sclerosis
Hunt, A. L., & Shepherd, C. (1993) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01046223 · Cited by 200 · see citing works
Autism in tuberous sclerosis complex is related to both cortical and subcortical dysfunction
Asano, E., Chugani, D. C., Muzik, O., Behen, M. E., Janisse, J. J., Rothermel, R. D., Mangner, T. J., Chakraborty, P. K., & Chugani, H. T. (2001) · Neurology · doi:10.1212/wnl.57.7.1269 · Cited by 178 · see citing works
Self-citationKagawa, K., Chugani, D. C., Asano, E., Juhász, C., Muzik, O., Shah, A. K., Shah, J., Sood, S., Kupsky, W. J., Mangner, T. J., et al. (2005) · Journal of Child Neurology · doi:10.1177/08830738050200050701 · Cited by 173 · see citing works
Self-citationKingsley, D. P. E., Kendall, B. E., & Fitz, C. R. (1986) · Neuroradiology · doi:10.1007/bf00341764 · Cited by 152 · see citing works
Multimodality imaging for improved detection of epileptogenic foci in tuberous sclerosis complex
Asano, E., Chugani, D. C., Muzik, O., Shen, C., Juhász, C., Janisse, J. J., Ager, J. W., Canady, A. I., Shah, J., Shah, A. K., et al. (2000) · Neurology · doi:10.1212/wnl.54.10.1976 · Cited by 142 · see citing works
Self-citationMüller, R.-A., Chugani, D. C., Behen, M. E., Rothermel, R. D., Muzik, O., Chakraborty, P. K., & Chugani, H. T. (1998) · Neuroscience Letters · doi:10.1016/s0304-3940(98)00151-7 · Cited by 122 · see citing works
Self-citationAutism and the Cerebellum: Evidence from Tuberous Sclerosis
Weber, A. M., Egelhoff, J. C., McKellop, J. M., & Franz, D. N. (2000) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005679108529 · Cited by 100 · see citing works
Perry, A., & Factor, D. C. (1989) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02212717 · Cited by 100 · see citing works
Neuroimaging in tuberous sclerosis: A clinicoradiological evaluation in pediatric patients
Menor, F., Martí‐Bonmatí, L., Mulas, F., Poyatos, C., & Cortina, H. (1992) · Pediatric Radiology · doi:10.1007/bf02012989 · Cited by 96 · see citing works
Altered regional brain glucose metabolism in Duchenne muscular dystrophy: A pet study
Lee, J. S., Pfund, Z., Juhász, C., Behen, M. E., Muzik, O., Chugani, D. C., Nigro, M. A., & Chugani, H. T. (2002) · Muscle & Nerve · doi:10.1002/mus.10238 · Cited by 93 · see citing works
Self-citationCerebellar hypoplasia and hyperplasia in infantile autism
Courchesne, E., Saitoh, O., Townsend, J., Yeung-Courchesne, R., Press, G., Lincoln, A., Haas, R., & Schreibman, L. (1994) · The Lancet · doi:10.1016/s0140-6736(94)90923-7 · Cited by 86 · see citing works
Lord, C. (2000) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005591205002 · Cited by 76 · see citing works
Martí‐Bonmatí, L., Menor, F., & Dosdá, R. (2000) · PubMed · Cited by 42 · see citing works
The cerebellum and non-motor function: clinical implications
Allen, G., & Courchesne, E. (1998) · Molecular Psychiatry · doi:10.1038/sj.mp.4000395 · Cited by 37 · see citing works
Pigmentary disorders: update on neurofibromatosis-1 and tuberous sclerosis
Arbuckle, H. A., & Morelli, J. G. (2000) · Current Opinion in Pediatrics · doi:10.1097/00008480-200008000-00013 · Cited by 21 · see citing works
Price (1999) · doi:10.1002/1531-8249(199903)45:3
Self-citationLidow (1998) · doi:10.1002/(sici)1098-2396(199801)28:1
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
Tsai, P. T., Hull, C., Chu, Y., Greene-Colozzi, E., Sadowski, A. R., Leech, J. M., Steinberg, J., Crawley, J. N., Regehr, W. G., & Sahin, M. (2012) · Nature · doi:10.1038/nature11310 · Cited by 888 · see citing works
Consensus Paper: Pathological Role of the Cerebellum in Autism
Fatemi, S. H., Aldinger, K. A., Ashwood, P., Bauman, M. L., Blaha, C. D., Blatt, G. J., Chauhan, A., Chauhan, V., Dager, S. R., Dickson, P. E., et al. (2012) · The Cerebellum · doi:10.1007/s12311-012-0355-9 · Cited by 723 · see citing works
Disentangling the heterogeneity of autism spectrum disorder through genetic findings
Jeste, S. S., & Geschwind, D. H. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.278 · Cited by 644 · see citing works
Cerebellar modulation of the reward circuitry and social behavior
Carta, I., Chen, C. H., Schott, A. L., Dorizan, S., & Khodakhah, K. (2019) · Science · doi:10.1126/science.aav0581 · Cited by 601 · see citing works
Pardo, C. A., & Eberhart, C. G. (2007) · Brain Pathology · doi:10.1111/j.1750-3639.2007.00102.x · Cited by 514 · see citing works
A developmental and genetic classification for midbrain-hindbrain malformations
Barkovich, A. J., Millen, K. J., & Dobyns, W. B. (2009) · Brain · doi:10.1093/brain/awp247 · Cited by 285 · see citing works
Autism spectrum disorder and the cerebellum.
Becker, E. B. E., & Stoodley, C. J. (2013) · International review of neurobiology · doi:10.1016/b978-0-12-418700-9.00001-0 · Cited by 248 · see citing works
The Emerging Picture of Autism Spectrum Disorder: Genetics and Pathology
Chen, J. A., Peñagarikano, O., Belgard, T. G., Swarup, V., & Geschwind, D. H. (2015) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-012414-040405 · Cited by 254 · see citing works
Autism spectrum disorders and neuropathology of the cerebellum
Hampson, D. R., & Blatt, G. J. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00420 · Cited by 247 · see citing works
Rapamycin for treating Tuberous Sclerosis and Autism Spectrum Disorders
Ehninger, D., & Silva, A. J. (2010) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2010.10.002 · Cited by 220 · see citing works
Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex
Numis, A. L., Major, P., Montenegro, M. A., Muzykewicz, D. A., Pulsifer, M. B., & Thiele, E. A. (2011) · Neurology · doi:10.1212/wnl.0b013e3182104347 · Cited by 214 · see citing works
Connecting Genes to Brain in the Autism Spectrum Disorders
Abrahams, B. S., & Geschwind, D. H. (2010) · Archives of Neurology · doi:10.1001/archneurol.2010.47 · Cited by 193 · see citing works
Reith, R. M., McKenna, J., Wu, H. C., Hashmi, S. S., Cho, S., Dash, P. K., & Gambello, M. J. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2012.10.014 · Cited by 191 · see citing works
New roles for the cerebellum in health and disease
Reeber, S. L., Otis, T. S., & Sillitoe, R. (2013) · Frontiers in Systems Neuroscience · doi:10.3389/fnsys.2013.00083 · Cited by 193 · see citing works
Sundberg, M., Tochitsky, I., Buchholz, D. E., Winden, K. D., Kujala, V. J., Kapur, K., Cataltepe, D., Turner, D., Han, M., Woolf, C. J., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0018-4 · Cited by 120 · see citing works
Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors
Tsai, P. T., Rudolph, S., Guo, C., Ellegood, J., Gibson, J. M., Schaeffer, S. M., Mogavero, J. N., Lerch, J. P., Regehr, W. G., & Şahin, M. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.09.039 · Cited by 109 · see citing works
The role of cerebellar circuitry alterations in the pathophysiology of autism spectrum disorders
Mosconi, M. W., Wang, Z., Schmitt, L. M., Tsai, P., & Sweeney, J. A. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00296 · Cited by 112 · see citing works
TSC1/TSC2 signaling in the CNS
Han, J. M., & Sahin, M. (2011) · FEBS Letters · doi:10.1016/j.febslet.2011.02.001 · Cited by 105 · see citing works
Current Developments in the Genetics of Autism: From Phenome to Genome
Losh, M. C., Sullivan, P. F., Trembath, D. G., & Piven, J. (2008) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e318184482d · Cited by 106 · see citing works
Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences
Basson, M. A., & Wingate, R. J. T. (2013) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2013.00029 · Cited by 102 · see citing works
Cerebellar involvement in autism and ADHD
Bruchhage, M. M. K., Bucci, M. P., & Becker, E. B. E. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64189-2.00004-4 · Cited by 94 · see citing works
Curatolo, P., Napolioni, V., & Moavero, R. (2010) · Journal of Child Neurology · doi:10.1177/0883073810361789 · Cited by 84 · see citing works
Tsai, P., & Sahin, M. (2011) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32834451c4 · Cited by 84 · see citing works
Neuroimaging in tuberous sclerosis complex
Luat, A. F., Makki, M., & Chugani, H. T. (2007) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3280895d93 · Cited by 82 · see citing works
Self-citationSavic, I., Perski, A., & Osika, W. (2017) · Cerebral Cortex · doi:10.1093/cercor/bhw413 · Cited by 78 · see citing works
Autism and Epilepsy in Patients With Tuberous Sclerosis Complex
Specchio, N., Pietrafusa, N., Trivisano, M., Moavero, R., Palma, L. D., Ferretti, A., Vigevano, F., & Curatolo, P. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.00639 · Cited by 78 · see citing works
Stoodley, C. J., & Tsai, P. T. (2021) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-100120-092143 · Cited by 74 · see citing works
Modeling autism-relevant behavioral phenotypes in rats and mice: Do ‘autistic’ rodents exist?
Servadio, M., Vanderschuren, L. J. M. J., & Trezza, V. (2015) · Behavioural Pharmacology · doi:10.1097/fbp.0000000000000163 · Cited by 76 · see citing works
Kumar, A., Asano, E., & Chugani, H. T. (2011) · Biomarkers in Medicine · doi:10.2217/bmm.11.68 · Cited by 74 · see citing works
Self-citationNeuropathology and Animal Models of Autism: Genetic and Environmental Factors
Gadad, B. S., Hewitson, L. C., Young, K. A., & German, D. C. (2013) · Autism Research and Treatment · doi:10.1155/2013/731935 · Cited by 69 · see citing works
Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration
Reith, R. M., Way, S., McKenna, J., Haines, K., & Gambello, M. J. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.02.014 · Cited by 65 · see citing works
Vaughn, J. A., Hagiwara, M., Katz, J. S., Roth, J., Devinsky, O., Weiner, H. L., & Milla, S. S. (2012) · American Journal of Neuroradiology · doi:10.3174/ajnr.a3260 · Cited by 58 · see citing works
Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism
Davis, P. E., Peters, J. M., Krueger, D. A., & Şahin, M. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0359-5 · Cited by 58 · see citing works
Arulrajah, S., Ertan, G., Jordan, L. C., Tekes, A., Khaykin, E., Izbudak, I., & Huisman, T. A. G. M. (2009) · Neuroradiology · doi:10.1007/s00234-009-0563-2 · Cited by 57 · see citing works
Ertan, G., Arulrajah, S., Tekes, A., Jordan, L. C., & Huisman, T. A. G. M. (2010) · Journal of Neuroradiology · doi:10.1016/j.neurad.2009.12.006 · Cited by 53 · see citing works
Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex
Sundberg, M., & Şahin, M. (2015) · Journal of Child Neurology · doi:10.1177/0883073815600870 · Cited by 42 · see citing works
The Role of Radionuclide Imaging in Epilepsy, Part 2: Epilepsy Syndromes
Kumar, A., & Chugani, H. T. (2013) · Journal of Nuclear Medicine Technology · doi:10.2967/jnumed.113.129593 · Cited by 42 · see citing works
Self-citationPeters, J. M., Taquet, M., Prohl, A. K., Scherrer, B., van Eeghen, A. M., Prabhu, S. P., Şahin, M., & Warfield, S. K. (2013) · Future Neurology · doi:10.2217/fnl.13.37 · Cited by 42 · see citing works
Cerebellar Dysfunction, Cerebro-cerebellar Connectivity and Autism Spectrum Disorders
Su, L., Xu, F., Wang, X., Cai, X., & Shen, Y. (2020) · Neuroscience · doi:10.1016/j.neuroscience.2020.05.028 · Cited by 39 · see citing works
Jeong, J., Tiwari, V. N., Behen, M. E., Chugani, H. T., & Chugani, D. C. (2014) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2014.00110 · Cited by 40 · see citing works
Self-citationNeuroimaging correlation with neurological severity in tuberous sclerosis complex
Chou, I., Lin, K., Wong, A. M., Wang, H.-S., Chou, M.-L., Hung, P., Hsieh, M., & Chang, M. (2007) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2007.07.002 · Cited by 37 · see citing works
Rovira, À., Ruiz-Falcó, M. L., Esparza, E. G., López‐Laso, E., Macaya, A., Málaga, I., Méndez, E. V., & Vicente, J. (2014) · Journal of Neuro-Oncology · doi:10.1007/s11060-014-1429-y · Cited by 36 · see citing works
Staley, B. A., Montenegro, M. A., Major, P., Muzykewicz, D. A., Halpern, E. F., Kopp, C. M. C., Newberry, P., & Thiele, E. A. (2008) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2008.07.010 · Cited by 35 · see citing works
Structural MRI biomarkers of shared pathogenesis in autism spectrum disorder and epilepsy
Blackmon, K. (2015) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2015.02.017 · Cited by 32 · see citing works
Defining the Role of Cerebellar Purkinje Cells in Autism Spectrum Disorders
Sudarov, A. (2013) · The Cerebellum · doi:10.1007/s12311-013-0490-y · Cited by 31 · see citing works
A Magnetic Resonance Imaging Study of Cerebellar Volume in Tuberous Sclerosis Complex
Weisenfeld, N., Peters, J. M., Tsai, P. T., Prabhu, S. P., Dies, K. A., Şahin, M., & Warfield, S. K. (2013) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2012.10.011 · Cited by 30 · see citing works
Kothare, S. V., Singh, K., Hochman, T., Chalifoux, J. R., Staley, B. A., Weiner, H. L., Menzer, K., & Devinsky, O. (2014) · Epilepsia · doi:10.1111/epi.12627 · Cited by 30 · see citing works
Cross-sectional Imaging Review of Tuberous Sclerosis
Krishnan, A. S., Kaza, R. K., & Vummidi, D. R. (2016) · Radiologic Clinics of North America · doi:10.1016/j.rcl.2015.12.003 · Cited by 27 · see citing works
Seizure-dependent mTOR activation in 5-HT neurons promotes autism-like behaviors in mice
McMahon, J. J., Yu, W., Yang, J., Feng, H., Helm, M., McMahon, E., Zhu, X. C., Shin, D. S.-H., & Huang, Y. (2014) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.10.004 · Cited by 27 · see citing works
A Critical Period for Development of Cerebellar-Mediated Autism-Relevant Social Behavior
Gibson, J. M., Howland, C. P., Ren, C., Howland, C., Vernino, A., & Tsai, P. T. (2022) · Journal of Neuroscience · doi:10.1523/jneurosci.1230-21.2021 · Cited by 25 · see citing works
Pulsed Arterial Spin-Labeled MR Imaging Evaluation of Tuberous Sclerosis
Pollock, J. M., Whitlow, C. T., Tan, H., Kraft, R., Burdette, J. H., & Maldjian, J. A. (2009) · American Journal of Neuroradiology · doi:10.3174/ajnr.a1428 · Cited by 25 · see citing works
Daghistani, R. K., Rutka, J. T., & Widjaja, E. (2014) · Child s Nervous System · doi:10.1007/s00381-014-2542-0 · Cited by 23 · see citing works
Boronat, S., Thiele, E. A., & Caruso, P. A. (2017) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.13499 · Cited by 22 · see citing works
Potential for treatment of severe autism in tuberous sclerosis complex
Gipson, T. (2013) · World Journal of Clinical Pediatrics · doi:10.5409/wjcp.v2.i3.16 · Cited by 21 · see citing works
Pathophysiology of Epilepsy in Autism Spectrum Disorders
Stafstrom, C. E., Hagerman, P. J., & Pessah, I. N. (2012) · Oxford University Press eBooks · doi:10.1093/med/9780199746545.003.0071 · Cited by 19 · see citing works
Significance of tuber size for complications of tuberous sclerosis complex
Pascual-Castroviejo, I., Hernández-Moneo, J. L., Pascual, S. I. P., Viano, J. C., Gutiérrez-Molina, M., Velázquez-Fragua, R., Tapia, D. Q., & Bastos, C. M. (2013) · Neurología (English Edition) · doi:10.1016/j.nrleng.2013.10.013 · Cited by 19 · see citing works
Kumar, A., Semah, F., Chugani, H. T., & Theodore, W. H. (2012) · Handbook of clinical neurology · doi:10.1016/b978-0-444-52898-8.00026-4 · Cited by 18 · see citing works
Self-citationEkici, M. A., Kumandaş, S., Per, H., Ekici, A., Tucer, B., Gümüş, H., Canöz, Ö., & Kurtsoy, A. (2011) · Turkish Neurosurgery · doi:10.5137/1019-5149.jtn.4169-11.0 · Cited by 17 · see citing works
Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex
Li, Y., Barkovich, M. J., Karch, C. M. M., Nillo, R. M., Fan, C. C., Broce, I., Tan, C. H., CUNEO, D. J., Hess, C. P., Dillon, W. P., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-31075-4 · Cited by 16 · see citing works
Importancia del tamaño de las tuberosidades en las complicaciones del complejo esclerosis tuberosa
Pascual-Castroviejo, I., Hernández-Moneo, J. L., Pascual, S. I. P., Viano, J. C., Gutiérrez-Molina, M., Velázquez-Fragua, R., Tapia, D. Q., & Bastos, C. M. (2012) · Neurología · doi:10.1016/j.nrl.2012.11.002 · Cited by 17 · see citing works
The Role of MicroRNAs in Cerebellar Development and Autism Spectrum Disorder During Embryogenesis
Constantin, L. (2016) · Molecular Neurobiology · doi:10.1007/s12035-016-0220-9 · Cited by 17 · see citing works
Dalal, J. S., Winden, K. D., Salussolia, C. L., Sundberg, M., Singh, A. K., Pham, T. T., Zhou, P., Pu, W. T., Miller, M. T., & Şahin, M. (2021) · eLife · doi:10.7554/elife.67399 · Cited by 15 · see citing works
Behavioral effects of neonatal lesions on the cerebellar system
Lalonde, R., & Strazielle, C. (2015) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2015.04.007 · Cited by 15 · see citing works
Canitano, R. (2012) · Behavioural Brain Research · doi:10.1016/j.bbr.2012.11.024 · Cited by 13 · see citing works
Toldo, I., Bugin, S., Perissinotto, E., Pelizza, M. F., Vignoli, A., Parazzini, C., Canevini, M. P., Nosadini, M., Sartori, S., & Manara, R. (2019) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.14313 · Cited by 12 · see citing works
Bednarz, H. M., & Kana, R. K. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-019-04168-w · Cited by 10 · see citing works
Cerebellar and Striatal Pathologies in Mouse Models of Autism Spectrum Disorder
Peter, S., Zeeuw, C. I. D., Boeckers, T. M., & Schmeißer, M. J. (2017) · Advances in anatomy, embryology and cell biology · doi:10.1007/978-3-319-52498-6_6 · Cited by 11 · see citing works
Shrot, S., Lawson, P., Shlomovitz, O., Hoffmann, C., Shrot, A., Ben‐Zeev, B., & Tzadok, M. (2021) · Neuroradiology · doi:10.1007/s00234-021-02789-6 · Cited by 11 · see citing works
Neuroanatomy of autism: what is the role of the cerebellum?
Baizer, J. S. (2024) · Cerebral Cortex · doi:10.1093/cercor/bhae050 · Cited by 11 · see citing works
Kútna, V., O’Leary, V. B., Höschl, C., & Ovsepian, S. V. (2022) · Autism Research · doi:10.1002/aur.2688 · Cited by 10 · see citing works
The Cerebellum and Autism: More than Motor Control
Fernández, M. C., Sierra-Arregui, T., & Peñagarikano, O. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.85897 · Cited by 10 · see citing works
Tuberous sclerosis complex: everything old is new again
Ess, K. C. (2009) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9014-y · Cited by 9 · see citing works
PET in the Assessment of Pediatric Brain Development and Developmental Disorders
Kumar, A., & Chugani, H. T. (2008) · PET Clinics · doi:10.1016/j.cpet.2009.04.006 · Cited by 7 · see citing works
Self-citationNuclear medicine of the cerebellum
Vella, A., & Mascalchi, M. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63956-1.00015-1 · Cited by 7 · see citing works
The Tuberous Sclerosis Complex
Jóźwiak, S., Migone, N., & Ruggieri, M. (2008) · Springer eBooks · doi:10.1007/978-3-211-69500-5_5 · Cited by 7 · see citing works
Cable, J., Purcell, R. H., Robinson, E., Vorstman, J. A. S., Chung, W. K., Constantino, J. N., Sanders, S., Şahin, M., Dolmetsch, R. E., Maniar, B., et al. (2021) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.14658 · Cited by 6 · see citing works
Autism Spectrum Disorders in Tuberous Sclerosis
Jülich, K., & Şahin, M. (2013) · Springer eBooks · doi:10.1007/978-1-4614-4788-7_184 · Cited by 5 · see citing works
The Cerebellum as a CNS Hub Modulating Autism-Relevant Behaviors
Rice, L. C., & Stoodley, C. J. (2021) · Contemporary clinical neuroscience · doi:10.1007/978-3-030-75817-2_20 · Cited by 5 · see citing works
Cerebellar impairments in genetic models of autism spectrum disorders: A neurobiological perspective
Yenkoyan, K. B., Grigoryan, A., Kútna, V., Shorter, S. A., O’Leary, V. B., Asadollahi, R., & Ovsepian, S. V. (2024) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2024.102685 · Cited by 4 · see citing works
All tubers are not created equal: Cerebellar tubers in a pediatric patient with tuberous sclerosis
Weerasinghe, S., & Sato, T. S. (2020) · Radiology Case Reports · doi:10.1016/j.radcr.2020.12.033 · Cited by 4 · see citing works
Sidira, C., Vargiami, E., Anastasiou, A. L., Talimtzi, P., Kyriazi, M., Dragoumi, P., Spanou, M., Ntinopoulos, A., Dalpa, E., Evangeliou, A., et al. (2021) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2021.06.009 · Cited by 4 · see citing works
Smoller, J. W., Finn, C. T., & Gardner-Schuster, E. E. (2008) · Elsevier eBooks · doi:10.1016/b978-0-323-04743-2.50065-2 · Cited by 3 · see citing works
Application of PET and SPECT to the Study of Autism Spectrum Disorders
Chugani, D. C. (2014) · Springer eBooks · doi:10.1007/978-3-642-40384-2_30 · Cited by 2 · see citing works
Self-citationMertiri, L., Boltshauser, E., Kralik, S. F., Desai, N. K., Lequin, M. H., & Huisman, T. A. G. M. (2024) · Children · doi:10.3390/children11060627 · Cited by 1 · see citing works
Stark, K. H. (2013) · Texas ScholarWorks (Texas Digital Library) · Cited by 1 · see citing works
L'évaluation neuropsychologique dans le contexte de l'épilepsie du nourrisson et du jeune enfant
Pinabiaux, C., Bulteau, C., & Jambaqué, I. (2013) · Contraste · doi:10.3917/cont.038.0103 · Cited by 1 · see citing works
Cerebellar Involvement in the Phakomatoses
Chong, W. K. (2007) · The Neuroradiology Journal · doi:10.1177/197140090702000408 · Cited by 1 · see citing works
CHARACTERIZATION AND TREATMENT OF A NOVEL MOUSE MODEL OF TSC-ASSOCIATED AUTISM
Reith, R. M. (2012) · Digital Commons-TMC (Texas Medical Center)
The cerebellum and divided attention in autism spectrum disorders
Hsu, J. Y. (2014) · Texas ScholarWorks (Texas Digital Library)
Mouse Models of Tuberous Sclerosis
Ehninger, D. (2014) · Neuromethods · doi:10.1007/978-1-4939-2250-5_17
Behavioral Analysis and Rescue of a Novel Cerebellar Mouse Model of Tuberous Sclerosis Complex
Gambello, M. J. (2012) · Defense Technical Information Center (DTIC) · doi:10.21236/ada566012
(2010) · Wiley eBooks · doi:10.1002/9781118269954.refs
Application of PET and SPECT to the Study of Autism Spectrum Disorders
Chugani, D. C., & Mukarram, S. (2020) · Springer eBooks · doi:10.1007/978-3-030-57231-0_29
Self-citationYogi, A., Hirata, Y., Linetsky, M., Ellingson, B. M., & Salamon, N. (2022) · Journal of Pediatric Epilepsy · doi:10.1055/s-0042-1756717
Lesions Associated with Autism Symptoms Map to a Cerebellar Brain NetworkPreprint
Herman, W. X., Miller, G. N., Şahin, M., Peters, J. M., Warfield, S. K., Kreuger, D. A., Bebin, E. M., Northrup, H., Wu, J. Y., Fox, M., et al. (2025) · SSRN Electronic Journal · doi:10.2139/ssrn.5087376
Abdelmohsen, M. A., Rezk, M. M. A., Youssef, A. A., Said, E. N., & Ibrahim, D. (2025) · The Egyptian Journal of Radiology and Nuclear Medicine · doi:10.1186/s43055-025-01652-5
Herman, W. X., Miller, G. N., Şahin, M., Peters, J. M., Warfield, S. K., Krueger, D. A., Bebin, E. M., Northrup, H., Wu, J. Y., Fox, M., et al. (2025) · Annals of the Child Neurology Society · doi:10.1002/cns3.70045
Hu, J., Zhao, C., Fang, Y. K., Zhang, H., & Liao, J. (2026) · BMC Psychiatry · doi:10.1186/s12888-026-07804-9
Les mécanismes antiépileptiques de l’AppCH2ppA dans la sclérose tubéreuse de Bourneville
Pons-Bennaceur, A. (2018) · theses.fr (ABES) · doi:10.70675/bc0fd846z6521z4538zb18cz82c70f31c458
- Authors
- Eluvathingal, T. J., Behen, M. E., Chugani, H. T., Janisse, J., Bernardi, B., Chakraborty, P., Juhasz, C., Muzik, O., & Chugani, D. C.
- Affiliations
- Wayne State University (US)
- Carman and Ann Adams Department of Pediatrics, Wayne State University, Department of Neurology, Wayne State University
- ORCID
- Venue
- Journal of Child Neurology
- Publisher
- SAGE Publications
- Published
- 2006-10
- Volume
- 21
- Issue
- 10
- Pages
- 846-851
- ISSN
- 0883-0738 (ISSN-L)
- 1708-8283
- OpenAlex
- W2110707589
- Cited by
- 100
- References
- 32
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 3 · 2022: 3 · 2021: 6 · 2020: 4 · 2019: 4 · 2018: 6 · 2017: 3 · 2016: 2 · 2015: 8 · 2014: 9 · 2013: 13 · 2012: 10
- FWCI
- 3.09
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Child Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS038324, NS 38324)
- Topics
- Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- tuberous sclerosis complex, cerebellar lesions, autism spectrum disorder, autistic symptomatology, adaptive behavior, social isolation, epilepsy surgery candidates
- MeSH terms
- Adolescent, Brain Mapping, Cerebellum, Child, Child, Preschool, Female, Humans, Image Processing, Computer-Assisted, Infant, Functional Laterality, Magnetic Resonance Imaging, Male, Mental Processes, Neuropsychological Tests, Triazoles, Tuberous Sclerosis, Cohort Studies, Fluorodeoxyglucose F18, Positron-Emission Tomography
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
