Intracranial abnormalities detected by three‐dimensional magnetic resonance imaging in Prader–Willi syndrome
Abstract
The neuropathologic abnormalities associated with Prader–Willi syndrome (PWS) are largely unknown. PWS is due to the loss of several paternally expressed genes in chromosome 15q11‐q13 region. Several of the imprinted genes in the 15q11‐q13 region are normally expressed in the brain and thought to be necessary for neuronal growth and development. Thus, we hypothesized that we would find abnormalities in gray and white matter growth in individuals with PWS. We evaluated three‐dimensional (3‐D) MRI scans of 20 individuals with PWS, aged three months to 39 years, and compared them to 3‐D MRI scans of 21 normal weight sibling controls and 16 individuals with early‐onset morbid obesity (EMO) of unknown etiology. The interpreters of the scans were blinded to the diagnosis of the subjects. Intracranial abnormalities in individuals with PWS included ventriculomegaly (100% of individuals), decreased volume of brain tissue in the parietal‐occipital lobe (50%), sylvian fissure polymicrogyria (60%), and incomplete insular closure (65%). None of the EMO or normal weight control subjects had any of these findings. We found multiple morphologic brain abnormalities in subjects with PWS suggesting that the loss of paternally expressed genes in chromosome 15q11‐q13 region may result in abnormalities of neuronal development. The specific mechanisms underlying these neuropathological abnormalities and their correlation with the clinical phenotype remain to be elucidated. © 2006 Wiley‐Liss, Inc.
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Neuropathological findings in Prader-Willi syndrome subjects include abnormal distribution of cells in the dentate and olivary nuclei, nerve degeneration in the dentate nucleus, cerebellar heterotopia, enlarged ventricles, reduced parieto-occipital lobe volume, multiple small gyri in the sylvian fissure, incompletely operculated insula, and smaller cerebellum and brainstem.
“Neuropathological findings in subjects with Prader-Willi syndrome include abnormal distribution of cells in the dentate and olivary nuclei, nerve degeneration in the dentate nucleus, cerebellar heterotopia [150], enlarged ventricles, reduced volume of parieto-occipital lobe, multiple small gyri in the sylvian fissure, incompletely operculated insula [239], and smaller cerebellum and brainstem [222”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [239]
Cites
Auditory-motor interaction revealed by fMRI: speech, music, and working memory in area Spt
Hickok, G., Buchsbaum, B., Humphries, C., & Muftuler, T. (2003) · Journal of Cognitive Neuroscience · doi:10.1162/089892903322307393 · Cited by 700 · see citing works
Images of desire: food-craving activation during fMRI
Pelchat, M. L., Johnson, A., Chan, R., Valdez, J., & Ragland, J. D. (2004) · NeuroImage · doi:10.1016/j.neuroimage.2004.08.023 · Cited by 667 · see citing works
Genome Organization, Function, and Imprinting in Prader-Willi and Angelman Syndromes
Nicholls, R. D., & Knepper, J. L. (2001) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.2.1.153 · Cited by 625 · see citing works
Prader‐Willi syndrome: Current understanding of cause and diagnosis
Butler, M. G. (1990) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320350306 · Cited by 581 · see citing works
Cassidy, S. B. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.11.917 · Cited by 472 · see citing works
Swaab, D. F., Purba, J. S., & Hofman, M. A. (1995) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.80.2.7852523 · Cited by 421 · see citing works
Prader-Willi syndrome: advances in genetics, pathophysiology and treatment
Goldstone, A. P. (2003) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2003.11.003 · Cited by 388 · see citing works
Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology
Bittel, D. C., & Butler, M. G. (2005) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399405009531 · Cited by 331 · see citing works
Butler, M. G., Bittel, D. C., Kibiryeva, N., Talebizadeh, Z., & Thompson, T. (2004) · Pediatrics · doi:10.1542/peds.113.3.565 · Cited by 298 · see citing works
Cassidy, S. B., Forsythe, M. E., Heeger, S., Nicholls, R. D., Schork, N. J., BENN, P. A., & Schwartz, S. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970211)68:4 · Cited by 258 · see citing works
Szaflarski, J. P., Schmithorst, V. J., Altaye, M., Byars, A. W., Ret, J., Plante, E., & Holland, S. K. (2006) · Annals of Neurology · doi:10.1002/ana.20817 · Cited by 230 · see citing works
Démonet, J., Price, C. J., Wise, R., & Frackowiak, R. S. J. (1994) · Neuroscience Letters · doi:10.1016/0304-3940(94)90196-1 · Cited by 197 · see citing works
Management of Prader-Willi Syndrome
Butler, M. G., Whitman, B. Y., & Lee, P. (2006) · Springer eBooks · doi:10.1007/978-0-387-33536-0 · Cited by 192 · see citing works
Neurological aspects of the Angelman syndrome
Williams, C. A. (2004) · Brain and Development · doi:10.1016/j.braindev.2003.09.014 · Cited by 190 · see citing works
Swillen, A., Vogels, A., Devriendt, K., & Fryns, J. P. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(200022)97:2 · Cited by 188 · see citing works
Psychiatric Disorders in Prader-Willi Syndrome
Dykens, E. M., & Shah, B. (2003) · CNS Drugs · doi:10.2165/00023210-200317030-00003 · Cited by 160 · see citing works
Lee, S. F. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.12.1813 · Cited by 156 · see citing works
Glenn, C. (1997) · Molecular Human Reproduction · doi:10.1093/molehr/3.4.321 · Cited by 145 · see citing works
Essential role for the Prader–Willi syndrome protein necdin in axonal outgrowth
Lee, S., Walker, C. L., Karten, B., Kuny, S., Tennese, A. A., O’Neill, M. A., & Wevrick, R. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi059 · Cited by 136 · see citing works
White matter lesions and hippocampal atrophy in Alzheimer’s disease
de Leeuw, F., Barkhof, F., & Scheltens, P. (2004) · Neurology · doi:10.1212/01.wnl.0000103289.03648.ad · Cited by 124 · see citing works
CACCIARI, E., Zucchini, S., Carlà, G., Pirazzoli, P., Cicognani, A., Mandini, M., Busacca, M., & Trevisan, C. (1990) · Archives of Disease in Childhood · doi:10.1136/adc.65.11.1199 · Cited by 120 · see citing works
Butler, M. G., & Thompson, T. (2000) · The Endocrinologist · doi:10.1097/00019616-200010041-00002 · Cited by 114 · see citing works
Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome
Hartley, S. L., MacLean, W. E., Butler, M. G., Zarcone, J., & Thompson, T. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30771 · Cited by 112 · see citing works
Functional Imaging of Mood and Anxiety Disorders
Deckersbach, T., Dougherty, D. D., & Rauch, S. L. (2006) · Journal of Neuroimaging · doi:10.1177/1051228405001474 · Cited by 110 · see citing works
Pediatric Congenital Bilateral Perisylvian Syndrome: Clinical and MRI Features in 12 Patients
Gropman, A. L., Barkovich, A. J., Vezina, L. G., et al. (1997) · Neuropediatrics · doi:10.1055/s-2007-973700 · Cited by 107 · see citing works
Pagliardini, S., Ren, J., Wevrick, R., & Greer, J. J. (2005) · The American Journal of Pathology · doi:10.1016/s0002-9440(10)62964-1 · Cited by 99 · see citing works
Lee, S. F. (2003) · Gene Expression Patterns · doi:10.1016/s1567-133x(03)00113-3 · Cited by 77 · see citing works
Vagus nerve stimulation therapy
George, M. S., Nahas, Z. H., Bohning, D. E., Kozel, F. A., Anderson, B., Chae, J., Lomarev, M. P., Denslow, S., Li, X., & Mu, C. (2002) · Neurology · doi:10.1212/wnl.59.6_suppl_4.s56 · Cited by 77 · see citing works
Developmental language disorder associated with polymicrogyria
Guerreiro, M. M., Hage, S. R. D. V., Guimarães, C. A., Abramides, D. V. M., Fernandes, W. L. M., Pacheco, P. S., Piovesana, A. M. S. G., Montenegro, M. A., & Cendes, F. (2002) · Neurology · doi:10.1212/wnl.59.2.245 · Cited by 74 · see citing works
Challis, J. R. G., Sloboda, D. M., Matthews, S. G., Holloway, A. C., Alfaidy, N., Howe, D. C., Fraser, M., & Newnham, J. P. (2000) · Endocrine Research · doi:10.3109/07435800009048560 · Cited by 74 · see citing works
Cassidy, S. B., & McCandless, S. E. (2005) · Wiley eBooks · doi:10.1002/0471695998.mgs036 · Cited by 65 · see citing works
Leonard, C. M., Williams, C. A., Nicholls, R. D., Agee, O. F., Voeller, K. K. S., Honeyman, J. C., & Staab, E. V. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320460107 · Cited by 62 · see citing works
Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity
Miller, J. L., Kranzler, J. H., Liu, Y., Schmalfuss, I. M., Theriaque, D. W., Shuster, J. J., Hatfield, A. S., Mueller, O. T., Goldstone, A. P., Sahoo, T., et al. (2006) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2006.04.013 · Cited by 59 · see citing works
Self-citationZurro, A. M., Franco, F. S., Vallejo, A. C., & Nistal, M. R. B. (1972) · PubMed · Cited by 58 · see citing works
Rolls, E. T. (2004) · Nutrition Reviews · doi:10.1111/j.1753-4887.2004.tb00099.x · Cited by 57 · see citing works
MR of the pituitary in patients with Prader-Willi syndrome: Size determination and imaging findings
Miller, L., Angulo, M., Price, D. B., & Taneja, S. (1996) · Pediatric Radiology · doi:10.1007/bf01403704 · Cited by 56 · see citing works
Combining voxel-based morphometry and diffusion tensor imaging to detect age-related brain changes
Lehmbeck, J. T., Brassen, S., Weber‐Fahr, W., & Braus, D. F. (2006) · Neuroreport · doi:10.1097/01.wnr.0000209012.24341.7f · Cited by 56 · see citing works
Relationship between clinical and genetic diagnosis of Prader-Willi syndrome
Whittington, J. E., Holland, A., Webb, T., Butler, J., Clarke, D., & Boer, H. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.12.926 · Cited by 55 · see citing works
Genetics of Childhood Disorders: XV. Prader-Willi Syndrome: Genes, Brain, and Behavior
State, M. W., & Dykens, E. M. (2000) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-200006000-00021 · Cited by 53 · see citing works
Hayashi, M., Itoh, M., Kabasawa, Y., Hayashi, H., Satoh, J., & Morimatsu, Y. (1992) · Brain and Development · doi:10.1016/s0387-7604(12)80281-6 · Cited by 45 · see citing works
Disorders of Development and Learning
Wolraich, M. L. (2003) · European Journal of Neurology · doi:10.1046/j.1468-1331.2003.00636.x · Cited by 38 · see citing works
Cognitive and neurobiological findings in obsessive–compulsive disorder
Anderson, K. E., & Savage, C. R. (2004) · Psychiatric Clinics of North America · doi:10.1016/s0193-953x(03)00107-2 · Cited by 36 · see citing works
Abnormal cortical development shown by 3D MRI in Prader–Willi syndrome
Yoshii, A., Krishnamoorthy, K. S., & Grant, P. E. (2002) · Neurology · doi:10.1212/wnl.59.4.644 · Cited by 28 · see citing works
The Trough Effect: Implications for Speech Motor Programming
Lindblom, B. E. F., Sussman, H. M., Ghavami, G. M., et al. (2002) · Phonetica · doi:10.1159/000068349 · Cited by 23 · see citing works
Developmental Language Disorder
Conti‐Ramsden, G., & Durkin, K. (2017) · doi:10.1002/9781119170235.ch35 · Cited by 21 · see citing works
Imagerie par résonance magnétique du retard mental non spécifique
Soto-Ares, G., Joyes, B., Delmaire, C., Vallée, L., & Pruvo, J. (2005) · Journal of Neuroradiology · doi:10.1016/s0150-9861(05)83143-8 · Cited by 6 · see citing works
Abbeduto (2004) · doi:10.1352/0895-8017(2004)109
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Self-citationAutism spectrum disorder: neuropathology and animal models
Varghese, M., Keshav, N., Jacot-Descombes, S., Warda, T., Wicinski, B., Dickstein, D. L., Harony-Nicolas, H., De Rubeis, S., Drapeau, E., Buxbaum, J. D., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1736-4 · Cited by 536 · see citing works
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Willette, A. A., & Kapogiannis, D. (2015) · Ageing Research Reviews · doi:10.1016/j.arr.2014.03.007 · Cited by 162 · see citing works
Miller, J. L., James, G. A., Goldstone, A. P., Couch, J. A., He, G., Driscoll, D. J., & Liu, Y. (2007) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.2006.099044 · Cited by 119 · see citing works
Self-citationFountain, M. D., Oleson, D. S., Rech, M. E., Segebrecht, L., Hunter, J. V., McCarthy, J. M., Lupo, P. J., Holtgrewe, M., Moran, R., Rosenfeld, J. A., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0433-1 · Cited by 80 · see citing works
Wilkes, B. J., & Lewis, M. H. (2018) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2018.05.022 · Cited by 64 · see citing works
Lukoshe, A., White, T., Schmidt, M. N., van der Lugt, A., & Hokken-Koelega, A. C. (2013) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-5-31 · Cited by 49 · see citing works
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von Deneen, K. M., Gold, M. S., & Liu, Y. (2009) · Journal of Addiction Medicine · doi:10.1097/adm.0b013e31819a6e5f · Cited by 17 · see citing works
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- Authors
- Miller, J. L., Couch, J. A., Schmalfuss, I., He, G., Liu, Y., & Driscoll, D. J.
- Affiliations
- University of Florida Health (US)
- University of Florida (US)
- Corresponding author
- Miller, Jennifer L.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2006-11-13
- Volume
- 143A
- Issue
- 5
- Pages
- 476-483
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2172234780
- Cited by
- 95
- References
- 47
- Citations by year
- 2026: 1 · 2023: 1 · 2022: 2 · 2021: 4 · 2019: 4 · 2018: 4 · 2017: 4 · 2016: 8 · 2015: 6 · 2014: 8 · 2013: 6 · 2012: 9
- FWCI
- 3.95
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Pediatric Endocrine Society
- National Institutes of Health
- National Center for Research Resources (U54RR019478, M01RR000082)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (K24HD001361)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- Prader-Willi syndrome, brain abnormalities, chromosome 15q11-q13, genomic imprinting, paternally expressed genes, ventriculomegaly, polymicrogyria, neuronal development
- MeSH terms
- Adolescent, Adult, Brain, Child, Child, Preschool, Cognition, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Organ Size, Prader-Willi Syndrome, Imaging, Three-Dimensional
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