Analysis of neocortex in three males with the Fragile X syndrome
Abstract
Fragile X [fraX] syndrome is a common hereditary disorder associated with a fragile site marker at Xq27.3 which clinically presents as a form of mental retardation (MR). Postmortem investigation of 3 fraX positive males with mild to moderate MR did not document any gross neuropathological changes. Golgi analysis of neocortical dendritic spine morphology extended our previous observations of immature, long, tortuous spines in one adult case of fraX (Rudelli, et al., Acta Neuropathologica 67:289-295, 1985) to 2 new cases. Evidence for similar dendritic spine abnormalities was found, although Golgi analysis was less than optimal because of incomplete dendritic stain impregnation. Neocortical intra-layer cell density was also investigated in all 3 cases. Cresyl violet stained neurons were counted in 10 randomly selected fields in neocortical layers II-VI of cingulate and temporal association areas (Brodmann's areas 23 and 38). Neuron counts in fraX and control neocortex showed no significant differences. Thus, abnormal dendritic spine morphology with preservation of neuronal density appears to characterize the neocortex in individuals with this common form of mental retardation.
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Dendritic spines of neocortical pyramidal neurons of Fragile X syndrome subjects are longer and thinner than those of matched controls, indicating perhaps the spines fail to mature normally in FXS patients.
“Anatomical studies of post-mortem brains have revealed that dendritic spines of neocortical pyramidal neurons of FXS subjects are longer and thinner than those of matched controls, indicating perhaps the spines fail to mature normally in FXS patients (Hinton et al., 1991; Irwin et al., 2001; Rudelli et al., 1985; Wisniewski et al., 1991).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Hinton et al., 1991
Cites
Hypoplasia of cerebellar vermal lobules VI and VII in autism
Courchesne, E., Yeung-Courchesne, R., Hesselink, J. R., & Jernigan, T. L. (1988) · New England Journal of Medicine · doi:10.1056/nejm198805263182102 · Cited by 1,058 · see citing works
Some morphometric aspects of the brain in senile dementia of the alzheimer type
Terry, R. D., Peck, A., DeTeresa, R., Schechter, R., & Horoupian, D. S. (1981) · Annals of Neurology · doi:10.1002/ana.410100209 · Cited by 801 · see citing works
Sutherland, G. R. (1977) · Science · doi:10.1126/science.877551 · Cited by 528 · see citing works
Dendritic Spine "Dysgenesis" and Mental Retardation
Purpura, D. P. (1974) · Science · doi:10.1126/science.186.4169.1126 · Cited by 522 · see citing works
Adult fragile X syndrome: Clinico-neuropathologic findings
Rudelli, R. D., Brown, W. T., Wisniewski, K., Jenkins, E. C., Laure-Kamionowska, M., Connell, F., & Wisniewski, H. M. (1985) · Acta Neuropathologica · doi:10.1007/bf00687814 · Cited by 362 · see citing works
Self-citationWilliams, R. S. (1980) · Archives of Neurology · doi:10.1001/archneur.1980.00500610029003 · Cited by 318 · see citing works
Takashima, S., Becker, L. E., Armstrong, D. L., & Chan, F. (1981) · Brain Research · doi:10.1016/0006-8993(81)90314-0 · Cited by 307 · see citing works
Structural abnormalities of the cerebral cortex in human chromosomal aberrations: a Golgi study
Marin-Padilla, M. (1972) · Brain Research · doi:10.1016/0006-8993(72)90324-1 · Cited by 290 · see citing works
Pyramidal cell abnormalities in the motor cortex of a child with Down's syndrome. A Golgi study
Marin‐Padilla, M. (1976) · Journal of Comparative Neurology · doi:10.1002/cne.901670105 · Cited by 285 · see citing works
Intrauterine Asphyxia and the Developing Fetal Brain
(1978) · Archives of Disease in Childhood · doi:10.1136/adc.53.8.696-d · Cited by 278 · see citing works
Alzheimer's disease: a correlative study.
Neary, D., Snowden, J. S., Mann, D. M. A., Bowen, D. M., Sims, N. R., Northen, B., Yates, P. O., & DAVISON, A. N. (1986) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.49.3.229 · Cited by 277 · see citing works
The fra(X) syndrome: Neurological, electrophysiological, and neuropathological abnormalities
Wisniewski, K. E., Segan, S. M., Miezejeski, C. M., Sersen, E. A., & Rudelli, R. D. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320380267 · Cited by 261 · see citing works
Self-citationMann, D. M. A., Yates, P. O., & Marcyniuk, B. (1985) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(85)90129-7 · Cited by 240 · see citing works
An analysis of autism in fifty males with the fragile X syndrome
Hagerman, R. J., Jackson, A. W., Levitas, A., Rimland, B., Braden, M., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320230128 · Cited by 238 · see citing works
Reduced Cerebellar Hemisphere Size and Its Relationship to Vermal Hypoplasia in Autism
Murakami, J. W., Courchesne, E., Press, G. A., Yeung-Courchesne, R., & Hesselink, J. R. (1989) · Archives of Neurology · doi:10.1001/archneur.1989.00520420111032 · Cited by 235 · see citing works
Zamiri, I. (1970) · The Lancet · doi:10.1016/s0140-6736(70)91802-7 · Cited by 232 · see citing works
Autism is associated with the fragile-X syndrome
Brown, W. T., Jenkins, E. C., Friedman, E., Brooks, J., Wisniewski, K. E., Raguthu, S., & French, J. H. (1982) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01531375 · Cited by 224 · see citing works
Self-citationDendritic development in neocortex of children with mental defect and infantile spasms
Huttenlocher, P. R. (1974) · Neurology · doi:10.1212/wnl.24.3.203 · Cited by 221 · see citing works
Down's syndrome: Is there a decreased population of neurons?
Ross, M. H., Galaburda, A. M., & Kemper, T. L. (1984) · Neurology · doi:10.1212/wnl.34.7.909 · Cited by 191 · see citing works
Suetsugu, M., & Mehraein, P. (1980) · Acta Neuropathologica · doi:10.1007/bf00688755 · Cited by 190 · see citing works
Neuroanatomy of fragile X syndrome: The posterior fossa
Reiss, A. L., Aylward, E., Freund, L. S., Joshi, P. K., & Bryan, R. N. (1991) · Annals of Neurology · doi:10.1002/ana.410290107 · Cited by 173 · see citing works
Ball, M. J., & Nuttall, K. L. (1980) · Annals of Neurology · doi:10.1002/ana.410070512 · Cited by 138 · see citing works
Rapid processing of primary embryonic tissues for chromosome banding pattern analysis
Klinger, H. P. (2008) · Cytogenetics · doi:10.1159/000130208 · Cited by 132 · see citing works
Cerebellar Structure in Autism
Gaffney, G. (1987) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1987.04460120096044 · Cited by 131 · see citing works
Marín‐Padilla, M. (1974) · Brain Research · doi:10.1016/0006-8993(74)90054-7 · Cited by 111 · see citing works
Cellular mechanisms subserving changes in neuronal activity
Rutledge, L. T. (1975) · Electroencephalography and Clinical Neurophysiology · doi:10.1016/0013-4694(75)90067-x · Cited by 111 · see citing works
On the gates of hell and a most unusual gene
Opitz, J. M., & Renolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320230102 · Cited by 79 · see citing works
Fragile X syndrome: Associated neurological abnormalities and developmental disabilities
Wisniewski, K. E., French, J. H., Fernando, S., Brown, W. T., Jenkins, E. C., Friedman, E., Hill, A. L., & Miezejeski, C. M. (1985) · Annals of Neurology · doi:10.1002/ana.410180607 · Cited by 74 · see citing works
Self-citationNielsen, K. B. (1983) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.1983.tb00293.x · Cited by 52 · see citing works
Experience with prenatal fragile X detection
Jenkins, E. C., Brown, W. T., Brooks, J., Duncan, C. J., Rudelli, R. D., Wisniewski, H. M., & Opitz, J. M. (1984) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320170114 · Cited by 48 · see citing works
Self-citationTESTICULAR SIZE IN FETAL FRAGILE X SYNDROME
Rudelli, R. D., Jenkins, E., Wisniewski, K. E., Moretz, R. C., Byrne, J., & Brown, W. T. (1983) · The Lancet · doi:10.1016/s0140-6736(83)92498-4 · Cited by 36 · see citing works
Self-citationThe Neurobiology of Down syndrome
Cowie, V. A. (1987) · Journal of Medical Genetics · doi:10.1136/jmg.24.12.790 · Cited by 34 · see citing works
The fragile X syndrome in a large family. I. Cytogenetic and clinical investigations.
Veenema, H., Geraedts, J. P. M., Beverstock, G. C., & Pearson, P. L. (1987) · Journal of Medical Genetics · doi:10.1136/jmg.24.1.23 · Cited by 25 · see citing works
Brown, W. T., Jenkins, E. C., Krawczun, M. S., Wisniewski, K. E., Rudelli, R. D., Cohen, I. L., Fisch, G. S., Wolf‐Schein, E. G., Miezejeski, C. M., & Dobkin, C. (1986) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1986.tb40329.x · Cited by 20 · see citing works
Self-citationX-Linked Mental Retardation and Fragile-X or Marker-X Syndrome
Rhoads, F. A. (1982) · PEDIATRICS · doi:10.1542/peds.69.5.668a · Cited by 15 · see citing works
Leisner, B. A. (1984) · American Journal of Occupational Therapy · doi:10.5014/ajot.38.4.272a · Cited by 4 · see citing works
Issac Newton and the optic chiasm
Sweeney, P. J. (1984) · Neurology · doi:10.1212/wnl.34.3.309 · Cited by 4 · see citing works
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Cited by
Sorted by citations
The mGluR theory of fragile X mental retardation
Bear, M. F., Huber, K. M., & Warren, S. T. (2004) · Trends in Neurosciences · doi:10.1016/j.tins.2004.04.009 · Cited by 1,580 · see citing works
Altered synaptic plasticity in a mouse model of fragile X mental retardation
Huber, K. M., Gallagher, S. M., Warren, S. T., & Bear, M. F. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.122205699 · Cited by 1,349 · see citing works
Structure and function of dendritic spines
Nimchinsky, E. A., Sabatini, B. L., & Svoboda, K. (2002) · Annual Review of Physiology · doi:10.1146/annurev.physiol.64.081501.160008 · Cited by 1,208 · see citing works
Brown, V., Jin, P., Ceman, S., Darnell, J. C., O'Donnell, W. T., Tenenbaum, S. A., Jin, X., Feng, Y., Wilkinson, K. D., Keene, J. D., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00568-2 · Cited by 1,109 · see citing works
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
Comery, T. A., Harris, J. B., Willems, P. J., Oostra, B. A., Irwin, S. A., Weiler, I. J., & Greenough, W. T. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.10.5401 · Cited by 1,046 · see citing works
The role of the Rho GTPases in neuronal developmentPreprint
Govek, E., Newey, S. E., & Aelst, L. V. (2005) · Genes & Development · doi:10.1101/gad.1256405 · Cited by 986 · see citing works
Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function
Darnell, J. C., Jensen, K. B., Jin, P., Brown, V., Warren, S. T., & Darnell, R. B. (2001) · Cell · doi:10.1016/s0092-8674(01)00566-9 · Cited by 952 · see citing works
Dentritic spines : structure, dynamics and regulation
Hering, H., & Sheng, M. (2001) · Nature Reviews Neuroscience · doi:10.1038/35104061 · Cited by 961 · see citing works
Dendritic Spine Pathology: Cause or Consequence of Neurological Disorders?
Fiala, J. C., Spacek, J., & Harris, K. M. (2002) · Brain Research Reviews · doi:10.1016/s0165-0173(02)00158-3 · Cited by 811 · see citing works
Dendritic Anomalies in Disorders Associated with Mental Retardation
Kaufmann, W. E. (2000) · Cerebral Cortex · doi:10.1093/cercor/10.10.981 · Cited by 733 · see citing works
Zalfa, F., Giorgi, M., Primerano, B., Moro, A., Di Penta, A., Reis, S., Oostra, B., & Bagni, C. (2003) · Cell · doi:10.1016/s0092-8674(03)00079-5 · Cited by 676 · see citing works
Weiler, I. J., Irwin, S. A., Klintsova, A. Y., Spencer, C. M., Brazelton, A. D., Miyashiro, K., Comery, T. A., Patel, B., Eberwine, J., & Greenough, W. T. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.10.5395 · Cited by 644 · see citing works
Zhang, Y., Bailey, A. M., Matthies, H. J. G., Renden, R., Smith, M. A., Speese, S. D., Rubin, G. M., & Broadie, K. S. (2001) · Cell · doi:10.1016/s0092-8674(01)00589-x · Cited by 641 · see citing works
Dendritic Spine Structural Anomalies in Fragile-X Mental Retardation Syndrome
Irwin, S. A. (2000) · Cerebral Cortex · doi:10.1093/cercor/10.10.1038 · Cited by 626 · see citing works
Jin, P., Zarnescu, D. C., Ceman, S., Nakamoto, M., Mowrey, J., Jongens, T. A., Nelson, D. L., Moses, K., & Warren, S. T. (2004) · Nature Neuroscience · doi:10.1038/nn1174 · Cited by 606 · see citing works
Autism 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
Abnormal Development of Dendritic Spines in<i>FMR1</i>Knock-Out Mice
Nimchinsky, E. A., Oberlander, A. M., & Svoboda, K. (2001) · The Journal of Neuroscience · doi:10.1523/jneurosci.21-14-05139.2001 · Cited by 560 · see citing works
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
Greco, C. (2002) · Brain · doi:10.1093/brain/awf184 · Cited by 560 · see citing works
Feng, Y., Gutekunst, C.-A., Eberhart, D. E., Yi, H., Warren, S. T., & Hersch, S. M. (1997) · The Journal of Neuroscience · doi:10.1523/jneurosci.17-05-01539.1997 · Cited by 532 · see citing works
Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP
Yan, Q. J., Rammal, M., Tranfaglia, M., & Bauchwitz, R. P. (2005) · Neuropharmacology · doi:10.1016/j.neuropharm.2005.06.004 · Cited by 521 · see citing works
Feng, Y., Absher, D., Eberhart, D. E., Brown, V., Malter, H. E., & Warren, S. T. (1997) · Molecular Cell · doi:10.1016/s1097-2765(00)80012-x · Cited by 511 · see citing works
Garber, K. B., Visootsak, J., & Warren, S. T. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.61 · Cited by 477 · see citing works
A Decade of Molecular Studies of Fragile X Syndrome
O'Donnell, W. T., & Warren, S. T. (2002) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.25.112701.142909 · Cited by 481 · see citing works
From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome
Bagni, C., & Greenough, W. T. (2005) · Nature Reviews Neuroscience · doi:10.1038/nrn1667 · Cited by 475 · see citing works
Sorra, K. E., & Harris, K. M. (2000) · Hippocampus · doi:10.1002/1098-1063(2000)10:5 · Cited by 456 · see citing works
Mechanisms governing activity-dependent synaptic pruning in the developing mammalian CNS
Faust, T. E., Gunner, G., & Schafer, D. P. (2021) · Nature reviews. Neuroscience · doi:10.1038/s41583-021-00507-y · Cited by 440 · see citing works
Belmonte, M. K., Cook, E. H., Anderson, G. M., Rubenstein, J. L. R., Greenough, W. T., Beckel-Mitchener, A., Courchesne, E., Boulanger, L. M., Powell, S. B., Levitt, P. R., et al. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001499 · Cited by 442 · see citing works
Dindot, S. V., Antalffy, B. A., Bhattacharjee, M. B., & Beaudet, A. L. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm288 · Cited by 418 · see citing works
Altered Neuronal and Circuit Excitability in Fragile X Syndrome
Contractor, A., Klyachko, V. A., & Portera‐Cailliau, C. (2015) · Neuron · doi:10.1016/j.neuron.2015.06.017 · Cited by 425 · see citing works
Regulation of F-Actin Stability in Dendritic Spines by Glutamate Receptors and Calcineurin
Halpain, S., Hipolito, A., & Saffer, L. (1998) · The Journal of Neuroscience · doi:10.1523/jneurosci.18-23-09835.1998 · Cited by 408 · see citing works
“For example, spines are morphologically abnormal in certain forms of mental retardation (Purpura, 1974; Hinton et al., 1991 ), and decreases in spine number and changes in spine morphology occur during normal aging in rodents and humans (Terry et al., 1987; Geinisman et al., 1992; Masliah et al., 1993).”
BackgroundKoekkoek, S. K. E., Yamaguchi, K., Milojkovic, B. A., Dortland, B. R., Ruigrok, T. J. H., Maex, R., Graaf, W. D., Smit, A. E., VanderWerf, F., Bakker, C. E., et al. (2005) · Neuron · doi:10.1016/j.neuron.2005.07.005 · Cited by 417 · see citing works
Structural and functional maturation of the developing primate brain
Levitt, P. R. (2003) · The Journal of Pediatrics · doi:10.1067/s0022-3476(03)00400-1 · Cited by 409 · see citing works
Spine-Neck Geometry Determines NMDA Receptor-Dependent Ca2+ Signaling in Dendrites
Noguchi, J., Matsuzaki, M., Ellis-Davies, G. C. R., & Kasai, H. (2005) · Neuron · doi:10.1016/j.neuron.2005.03.015 · Cited by 419 · see citing works
Bhatt, D. H., Zhang, S., & Gan, W.-B. (2009) · Annual Review of Physiology · doi:10.1146/annurev.physiol.010908.163140 · Cited by 380 · see citing works
Mazrouï, R. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.24.3007 · Cited by 369 · see citing works
Understanding the molecular basis of fragile X syndrome
Jin, P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.6.901 · Cited by 368 · see citing works
Genetics of Early Onset Cognitive Impairment
Ropers, H. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141640 · Cited by 365 · see citing works
Rho GTPases, dendritic structure, and mental retardation
Newey, S. E., Velamoor, V., Govek, E., & Van Aelst, L. (2005) · Journal of Neurobiology · doi:10.1002/neu.20153 · Cited by 351 · see citing works
Molecular mechanisms of dendritic spine development and remodeling
Ethell, I. M., & Pasquale, E. B. (2005) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2005.02.003 · Cited by 349 · see citing works
RNA and microRNAs in fragile X mental retardation
Jin, P., Alisch, R. S., & Warren, S. T. (2004) · Nature Cell Biology · doi:10.1038/ncb1104-1048 · Cited by 346 · see citing works
Schenck, A., Bardoni, B., Langmann, C., Harden, N., Mandel, J.-L., & Giangrande, A. (2003) · Neuron · doi:10.1016/s0896-6273(03)00354-4 · Cited by 316 · see citing works
Synaptic regulation of protein synthesis and the fragile X protein
Greenough, W. T., Klintsova, A. Y., Irwin, S. A., Galvez, R., Bates, K. E., & Weiler, I. J. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.141145998 · Cited by 317 · see citing works
Autism: A “Critical Period” Disorder?
LeBlanc, J. J., & Fagiolini, M. (2011) · Neural Plasticity · doi:10.1155/2011/921680 · Cited by 301 · see citing works
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice
de Vrij, F. M. S., Levenga, J., van der Linde, H. C., Koekkoek, S. K., De Zeeuw, C. I., Nelson, D. L., Oostra, B. A., & Willemsen, R. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.04.002 · Cited by 313 · see citing works
Audiogenic Seizures Susceptibility in Transgenic Mice with Fragile X Syndrome
Musumeci, S. A., Bosco, P., Calabrese, G., Bakker, C., De Sarro, G. B., Elia, M., Ferri, R., & Oostra, B. A. (2000) · Epilepsia · doi:10.1111/j.1528-1157.2000.tb01499.x · Cited by 289 · see citing works
FMRP Mediates mGluR5-Dependent Translation of Amyloid Precursor Protein
Westmark, C. J., & Malter, J. S. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050052 · Cited by 292 · see citing works
“To date, the only abnormal neurpathologic observations in the human FXS brain have involved impaired synaptic pruning and maturation [51]; however, a very limited number of aged FXS brains have been studied [4,29,52], so other neuropathologies, such as increased amyloid burden and synaptic degeneration normally associ…”
BackgroundNosyreva, E. D., & Huber, K. M. (2006) · Journal of Neurophysiology · doi:10.1152/jn.01316.2005 · Cited by 292 · see citing works
(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features
Peier, A. M. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.8.1145 · Cited by 285 · see citing works
The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo
Mientjes, E., Nieuwenhuizen, I. M., Kirkpatrick, L., Zu, T., Hoogeveen‐Westerveld, M., Severijnen, L., Rife, M. F., Willemsen, R., Nelson, D. L., & Oostra, B. A. (2005) · Neurobiology of Disease · doi:10.1016/j.nbd.2005.08.019 · Cited by 285 · see citing works
Inhibition of p21-activated kinase rescues symptoms of fragile X syndrome in mice
Hayashi, M. L., Rao, B. S. S., Seo, J.-S., Choi, H.-S., Dolan, B. M., Choi, S.-Y., Chattarji, S., & Tonegawa, S. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0705003104 · Cited by 281 · see citing works
Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity
Gilbert, J. P., & Man, H. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00359 · Cited by 274 · see citing works
Irwin, S. A., Idupulapati, M., Gilbert, M. E., Harris, J. B., Chakravarti, A. B., Rogers, E. J., Crisostomo, R. A., Larsen, B. P., Mehta, A., Alcantara, C. J., et al. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10500 · Cited by 270 · see citing works
Qin, M., Kang, J., Burlin, T. V., Jiang, C., & Smith, C. B. (2005) · The Journal of Neuroscience · doi:10.1523/jneurosci.0093-05.2005 · Cited by 263 · see citing works
Dolan, B. M., Duron, S. G., Campbell, D. A., Vollrath, B., Rao, B. S. S., Ko, H.-Y., Lin, G. G., Govindarajan, A., Choi, S.-Y., & Tonegawa, S. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1219383110 · Cited by 260 · see citing works
Vries, B. B. A. D., Halley, D. J. J., Oostra, B. A., & Niermeijer, M. F. (1998) · Journal of Medical Genetics · doi:10.1136/jmg.35.7.579 · Cited by 260 · see citing works
The fragile X premutation: into the phenotypic fold
Hagerman, R. J., & Hagerman, P. J. (2002) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(02)00299-x · Cited by 259 · see citing works
Toward Fulfilling the Promise of Molecular Medicine in Fragile X Syndrome
Krueger, D. D., & Bear, M. F. (2011) · Annual Review of Medicine · doi:10.1146/annurev-med-061109-134644 · Cited by 259 · see citing works
Martínez‐Cerdeño, V. (2017) · Developmental Neurobiology · doi:10.1002/dneu.22417 · Cited by 256 · see citing works
EphB/syndecan-2 signaling in dendritic spine morphogenesis
Ethell, I. M., Irie, F., Kalo, M. S., Couchman, J. R., Pasquale, E. B., & Yamaguchi, Y. (2001) · Neuron · doi:10.1016/s0896-6273(01)00440-8 · Cited by 309 · see citing works
Dendritic spines: Revisiting the physiological role
Chidambaram, S. B., Rathipriya, A. G., Bolla, S. R., Bhat, A., Ray, B., Mahalakshmi, A. M., Manivasagam, T., Thenmozhi, A. J., Essa, M. M., Guillemin, G. J., et al. (2019) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2019.01.005 · Cited by 255 · see citing works
Fragile X and autism: intertwined at the molecular level leading to targeted treatments
Hagerman, R., Hoem, G., & Hagerman, P. (2010) · Molecular Autism · doi:10.1186/2040-2392-1-12 · Cited by 247 · see citing works
Henderson, C., Wijetunge, L., Kinoshita, M. N., Shumway, M., Hammond, R. S., Postma, F. R., Brynczka, C., Rush, R., Thomas, A., Paylor, R., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004218 · Cited by 249 · see citing works
Fragile X Mental Retardation Protein Regulates Translation by Binding Directly to the Ribosome
Chen, E., Sharma, M. R., Shi, X., Agrawal, R. K., & Joseph, S. (2014) · Molecular Cell · doi:10.1016/j.molcel.2014.03.023 · Cited by 249 · see citing works
Epilepsy and EEG Findings in Males with Fragile X Syndrome
Musumeci, S. A., Hagerman, R. J., Ferri, R., Bosco, P., Bernardina, B. D., Tassinari, C. A., Sarro, G. D., & Elia, M. (1999) · Epilepsia · doi:10.1111/j.1528-1157.1999.tb00824.x · Cited by 250 · see citing works
Selby, L., Zhang, C., & Sun, Q.-Q. (2007) · Neuroscience Letters · doi:10.1016/j.neulet.2006.11.062 · Cited by 245 · see citing works
Neurodevelopmental effects of the FMR-1 full mutation in humans
Reiss, A. L., Abrams, M. T., Greenlaw, R., Freund, L., & Denckla, M. B. (1995) · Nature Medicine · doi:10.1038/nm0295-159 · Cited by 242 · 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
Modeling fragile X syndrome in the <i>Fmr1</i> knockout mouse
Kazdoba, T. M., Leach, P. T., Silverman, J. L., & Crawley, J. N. (2014) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2014.01024 · Cited by 241 · see citing works
Brain-Derived Neurotrophic Factor Rescues Synaptic Plasticity in a Mouse Model of Fragile X Syndrome
Lauterborn, J. C., Rex, C. S., Kramár, E. A., Chen, L. Y., Pandyarajan, V., LYNCH, G. S., & Gall, C. M. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.2624-07.2007 · Cited by 241 · see citing works
Drosophila Fragile X Protein, DFXR, Regulates Neuronal Morphology and Function in the Brain
Morales, J., Hiesinger, P. R., Schroeder, A. J., Kume, K., Verstreken, P., Jackson, F. R., Nelson, D. L., & Hassan, B. A. (2002) · Neuron · doi:10.1016/s0896-6273(02)00731-6 · Cited by 238 · see citing works
Galvez, R., & Greenough, W. T. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30709 · Cited by 231 · see citing works
Lee, A., Li, W., Xu, K., Bogert, B. A., Su, K., & Gao, F. (2003) · Development · doi:10.1242/dev.00792 · Cited by 229 · see citing works
Role of astrocyte–synapse interactions in CNS disorders
Blanco‐Suárez, E., Caldwell, A. L. M., & Allen, N. J. (2016) · The Journal of Physiology · doi:10.1113/jp270988 · Cited by 222 · see citing works
Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS)
Hagerman, P. J., & Hagerman, R. J. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20005 · Cited by 219 · see citing works
The trouble with spines in fragile X syndrome: density, maturity and plasticity
He, C. X., & Portera‐Cailliau, C. (2012) · Neuroscience · doi:10.1016/j.neuroscience.2012.03.049 · Cited by 206 · see citing works
Pan, F., Aldridge, G. M., Greenough, W. T., & Gan, W.-B. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1012496107 · Cited by 208 · see citing works
The State of Synapses in Fragile X Syndrome
Pfeiffer, B. E., & Huber, K. M. (2009) · The Neuroscientist · doi:10.1177/1073858409333075 · Cited by 214 · see citing works
Decreased GABAA receptor expression in the seizure-prone fragile X mouse
Idrissi, A. E., Ding, X., Scalia, J., Trenkner, E., Brown, W. T., & Dobkin, C. (2004) · Neuroscience Letters · doi:10.1016/j.neulet.2004.11.087 · Cited by 210 · see citing works
Self-citationWeiler, I. J., Spangler, C. C., Klintsova, A. Y., Grossman, A. W., Kim, S. H., Bertaina-Anglade, V., Khaliq, H., de Vries, F. E., Lambers, F. A. E., Hatia, F., et al. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0407533101 · Cited by 210 · see citing works
Ethell, I. M., & Yamaguchi, Y. (1999) · The Journal of Cell Biology · doi:10.1083/jcb.144.3.575 · Cited by 209 · see citing works
Grossman, A. W., Elisseou, N. M., McKinney, B. C., & Greenough, W. T. (2006) · Brain Research · doi:10.1016/j.brainres.2006.02.044 · Cited by 204 · see citing works
Gatto (2010) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2010.00004 · Cited by 204 · see citing works
3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry
Chiang, M.-C., Reiss, A. L., Lee, A. D., Bellugi, U., Galaburda, A. M., Korenberg, J. R., Mills, D. L., Toga, A. W., & Thompson, P. M. (2007) · NeuroImage · doi:10.1016/j.neuroimage.2007.04.024 · Cited by 203 · see citing works
New insights into fragile X syndrome: from molecules to neurobehaviors
Jin, P., & Warren, S. T. (2003) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(03)00033-1 · Cited by 203 · see citing works
Molecular Insights into mRNA Transport and Local Translation in the Mammalian Nervous System
Kiebler, M. A., & DesGroseillers, L. (2000) · Neuron · doi:10.1016/s0896-6273(00)80868-5 · Cited by 202 · see citing works
Meredith, R. M., Holmgren, C. D., Weidum, M., Burnashev, N., & Mansvelder, H. D. (2007) · Neuron · doi:10.1016/j.neuron.2007.04.028 · Cited by 190 · see citing works
The Drosophila Fragile X Gene Negatively Regulates Neuronal Elaboration and Synaptic Differentiation
Pan, L., Zhang, Y., Woodruff, E. A., & Broadie, K. S. (2004) · Current Biology · doi:10.1016/j.cub.2004.09.085 · Cited by 194 · see citing works
Human Models Are Needed for Studying Human Neurodevelopmental Disorders
Zhao, X., & Bhattacharyya, A. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.10.009 · Cited by 192 · see citing works
Dendritic pathology in mental retardation: from molecular genetics to neurobiology
Dierssen, M., & Ramakers, G. J. A. (2006) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2006.00224.x · Cited by 190 · see citing works
The role of Rho GTPases in disease development
Boettner, B., & Van Aelst, L. (2002) · Gene · doi:10.1016/s0378-1119(02)00426-2 · Cited by 229 · see citing works
Khandjian, E. W., Huot, M.-E., Tremblay, S., Davidovic, L., Mazroui, R., & Bardoni, B. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0405398101 · Cited by 178 · see citing works
Altered differentiation of neural stem cells in fragile X syndrome
Castrén, M., Tervonen, T., Kärkkäinen, V., Heinonen, S., Castrén, E., Larsson, K., Bakker, C. E., Oostra, B. A., & Åkerman, K. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0508995102 · Cited by 176 · see citing works
Fmr1 knockout mouse has a distinctive strain-specific learning impairment
Dobkin, C., Rabe, A., Dumas, R., El Idrissi, A., Haubenstock, H., & Ted Brown, W. (2000) · Neuroscience · doi:10.1016/s0306-4522(00)00292-x · Cited by 179 · see citing works
Self-citationLai, K., & Ip, N. Y. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2013.08.012 · Cited by 178 · see citing works
Dendritic spine dysgenesis in autism related disorders
Phillips, M. L., & Pozzo‐Miller, L. D. (2015) · Neuroscience Letters · doi:10.1016/j.neulet.2015.01.011 · Cited by 176 · see citing works
Local Protein Synthesis and Spine Morphogenesis: Fragile X Syndrome and Beyond
Grossman, A. W., Aldridge, G. M., Weiler, I. J., & Greenough, W. T. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.1790-06.2006 · Cited by 178 · see citing works
What Can We Learn about Autism from Studying Fragile X Syndrome?
Budimirovic, D. B., & Kaufmann, W. E. (2011) · Developmental Neuroscience · doi:10.1159/000330213 · Cited by 176 · see citing works
iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth
Doers, M. E., Musser, M. T., Nichol, R., Berndt, E. R., Baker, M., Gomez, T. M., Zhang, S.-C., Abbeduto, L., & Bhattacharyya, A. (2014) · Stem Cells and Development · doi:10.1089/scd.2014.0030 · Cited by 165 · see citing works
Fmr1 KO Mice as a Possible Model of Autistic Features
Bernardet, M., & Crusio, W. E. (2006) · The Scientific World JOURNAL · doi:10.1100/tsw.2006.220 · Cited by 170 · see citing works
Monaghan, K. G., Lyon, E., & Spector, E. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.61 · Cited by 169 · see citing works
- Authors
- Hinton, V. J., Brown, W. T., Wisniewski, K., & Rudelli, R. D.
- Affiliations
- Queens College, CUNY (US)
- Cornell University (US)
- Corresponding author
- Rudelli, R. D.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1991-12
- Volume
- 41
- Issue
- 3
- Pages
- 289-294
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2051541374
- Cited by
- 527
- References
- 37
- Citations by year
- 2026: 8 · 2025: 5 · 2024: 7 · 2023: 11 · 2022: 9 · 2021: 13 · 2020: 14 · 2019: 14 · 2018: 12 · 2017: 20 · 2016: 23 · 2015: 20 · 2014: 25 · 2013: 24 · 2012: 24
- FWCI
- 0.43
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- fragile X syndrome, neocortex, dendritic spines, Golgi staining, intellectual disability, neuronal density, cingulate cortex, temporal association cortex, male patients, neuropathology
- MeSH terms
- Adolescent, Adult, Analysis of Variance, Cell Count, Cerebral Cortex, Fragile X Syndrome, Humans, Karyotyping, Male, Intellectual Disability, Middle Aged, Neurons, Pedigree, Staining and Labeling
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