Neuropathology References
Clinical Studies
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2. Campbell DB, D'Oronzio R, Garbett K, Ebert PJ, Mirnics K, Levitt P et al. Disruption of cerebral cortex MET signaling in autism spectrum disorder. Ann Neurol 2007; 62(3): 243-250.
3. Casanova MF, Buxhoeveden DP, Switala AE, Roy E. Asperger's syndrome and cortical neuropathology. J Child Neurol 2002; 17(2): 142-145.
4. Casanova MF, Buxhoeveden DP, Switala AE, Roy E. Neuronal density and architecture (Gray Level Index) in the brains of autistic patients. J Child Neurol 2002; 17(7): 515-521.
5. Casanova MF, Buxhoeveden DP, Switala AE, Roy E. Minicolumnar pathology in autism. Neurology 2002; 58(3): 428-432.
6. Courchesne E, Muller RA, Saitoh O. Brain weight in autism: normal in the majority of cases, megalencephalic in rare cases. Neurology 1999; 52(5): 1057-1059.
7. Fatemi SH, Folsom TD, Reutiman TJ, Lee S. Expression of astrocytic markers aquaporin 4 and connexin 43 is altered in brains of subjects with autism. Synapse 2008; 62(7): 501-507.
8. Fatemi SH, Halt AR, Realmuto G, Earle J, Kist DA, Thuras P et al. Purkinje cell size is reduced in cerebellum of patients with autism. Cell Mol Neurobiol 2002; 22(2): 171-175.
9. Fatemi SH, Halt AR, Stary JM, Kanodia R, Schulz SC, Realmuto GR. Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices. Biol Psychiatry 2002; 52(8): 805-810.
10. Fatemi SH, Reutiman TJ, Folsom TD, Thuras PD. GABA(A) receptor downregulation in brains of subjects with autism. J Autism Dev Disord 2009; 39(2): 223-230.
11. Fatemi SH, Snow AV, Stary JM, Araghi-Niknam M, Reutiman TJ, Lee S et al. Reelin signaling is impaired in autism. Biol Psychiatry 2005; 57(7): 777-787.
12. Hof PR, Knabe R, Bovier P, Bouras C. Neuropathological observations in a case of autism presenting with self-injury behavior. Acta Neuropathol 1991; 82(4): 321-326.
13. Hutsler JJ, Love T, Zhang H. Histological and magnetic resonance imaging assessment of cortical layering and thickness in autism spectrum disorders. Biol Psychiatry 2007; 61(4): 449-457.
14. Ji L, Chauhan A, Brown WT, Chauhan V. Increased activities of Na+/K+-ATPase and Ca2+/Mg2+-ATPase in the frontal cortex and cerebellum of autistic individuals. Life Sci 2009; 85(23-26): 788-793.
15. Jou RJ, Minshew NJ, Keshavan MS, Hardan AY. Cortical gyrification in autistic and asperger disorders: a preliminary magnetic resonance imaging study. J Child Neurol 2010; 25(12): 1462-1467.
16. Junaid MA, Kowal D, Barua M, Pullarkat PS, Sklower Brooks S, Pullarkat RK. Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor. Am J Med Genet A 2004; 131(1): 11-17.
17. Kemper TL, Bauman M. Neuropathology of infantile autism. J Neuropathol Exp Neurol 1998; 57(7): 645-652.
18. Kennedy DP, Semendeferi K, Courchesne E. No reduction of spindle neuron number in frontoinsular cortex in autism. Brain Cogn 2007; 64(2): 124-129.
19. Killian W, Riederer P, Linkesch W. Serum iron status in Rett syndrome. Brain Dev 1987; 9(5): 523-524.
20. Laurence JA, Fatemi SH. Glial fibrillary acidic protein is elevated in superior frontal, parietal and cerebellar cortices of autistic subjects. Cerebellum 2005; 4(3): 206-210.
21. Lawrence YA, Kemper TL, Bauman ML, Blatt GJ. Parvalbumin-, calbindin-, and calretinin-immunoreactive hippocampal interneuron density in autism. Acta Neurol Scand 2010; 121(2): 99-108.
22. Lee M, Martin-Ruiz C, Graham A, Court J, Jaros E, Perry R et al. Nicotinic receptor abnormalities in the cerebellar cortex in autism. Brain 2002; 125(Pt 7): 1483-1495.
23. Lepagnol-Bestel AM, Maussion G, Boda B, Cardona A, Iwayama Y, Delezoide AL et al. SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. Mol Psychiatry 2008; 13(4): 385-397.
24. Lintas C, Altieri L, Lombardi F, Sacco R, Persico AM. Association of autism with polyomavirus infection in postmortem brains. J Neurovirol 2010; 16(2): 141-149.
25. Lintas C, Sacco R, Garbett K, Mirnics K, Militerni R, Bravaccio C et al. Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression. Mol Psychiatry 2009; 14(7): 705-718.
26. Martchek M, Thevarkunnel S, Bauman M, Blatt G, Kemper T. Lack of evidence of neuropathology in the locus coeruleus in autism. Acta Neuropathol 2006; 111(5): 497-499.
27. Martin-Ruiz CM, Lee M, Perry RH, Baumann M, Court JA, Perry EK. Molecular analysis of nicotinic receptor expression in autism. Brain Res Mol Brain Res 2004; 123(1-2): 81-90.
28. Maussion G, Carayol J, Lepagnol-Bestel AM, Tores F, Loe-Mie Y, Milbreta U et al. Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism. Hum Mol Genet 2008; 17(16): 2541-2551.
29. Mukaetova-Ladinska EB, Arnold H, Jaros E, Perry R, Perry E. Depletion of MAP2 expression and laminar cytoarchitectonic changes in dorsolateral prefrontal cortex in adult autistic individuals. Neuropathol Appl Neurobiol 2004; 30(6): 615-623.
30. Nagarajan RP, Hogart AR, Gwye Y, Martin MR, LaSalle JM. Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation. Epigenetics 2006; 1(4): e1-11.
31. Nomura Y, Segawa M. Motor symptoms of the Rett syndrome: abnormal muscle tone, posture, locomotion and stereotyped movement. Brain Dev 1992; 14 Suppl: S21-28.
32. Orstavik KH, Stromme P, Ek J, Torvik A, Skjeldal OH. Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome? J Med Genet 1997; 34(10): 849-851.
33. Pastural E, Ritchie S, Lu Y, Jin W, Kavianpour A, Khine Su-Myat K et al. Novel plasma phospholipid biomarkers of autism: mitochondrial dysfunction as a putative causative mechanism. Prostaglandins Leukot Essent Fatty Acids 2009; 81(4): 253-264.
34. Purcell AE, Jeon OH, Zimmerman AW, Blue ME, Pevsner J. Postmortem brain abnormalities of the glutamate neurotransmitter system in autism. Neurology 2001; 57(9): 1618-1628.
35. Purcell AE, Rocco MM, Lenhart JA, Hyder K, Zimmerman AW, Pevsner J. Assessment of neural cell adhesion molecule (NCAM) in autistic serum and postmortem brain. J Autism Dev Disord 2001; 31(2): 183-194.
36. Ritvo ER, Freeman BJ, Scheibel AB, Duong T, Robinson H, Guthrie D et al. Lower Purkinje cell counts in the cerebella of four autistic subjects: initial findings of the UCLA-NSAC Autopsy Research Report. Am J Psychiatry 1986; 143(7): 862-866.
37. Rodier PM, Ingram JL, Tisdale B, Croog VJ. Linking etiologies in humans and animal models: studies of autism. Reprod Toxicol 1997; 11(2-3): 417-422.
38. Rodier PM, Ingram JL, Tisdale B, Nelson S, Romano J. Embryological origin for autism: developmental anomalies of the cranial nerve motor nuclei. J Comp Neurol 1996; 370(2): 247-261.
39. Saitoh O, Courchesne E. Magnetic resonance imaging study of the brain in autism. Psychiatry Clin Neurosci 1998; 52 Suppl: S219-222.
40. Santangelo SL, Tsatsanis K. What is known about autism: genes, brain, and behavior. Am J Pharmacogenomics 2005; 5(2): 71-92.
41. Schumann CM, Amaral DG. Stereological analysis of amygdala neuron number in autism. J Neurosci 2006; 26(29): 7674-7679.
42. Schumann CM, Hamstra J, Goodlin-Jones BL, Lotspeich LJ, Kwon H, Buonocore MH et al. The amygdala is enlarged in children but not adolescents with autism; the hippocampus is enlarged at all ages. J Neurosci 2004; 24(28): 6392-6401.
43. Simms ML, Kemper TL, Timbie CM, Bauman ML, Blatt GJ. The anterior cingulate cortex in autism: heterogeneity of qualitative and quantitative cytoarchitectonic features suggests possible subgroups. Acta Neuropathol 2009; 118(5): 673-684.
44. Vargas DL, Nascimbene C, Krishnan C, Zimmerman AW, Pardo CA. Neuroglial activation and neuroinflammation in the brain of patients with autism. Ann Neurol 2005; 57(1): 67-81.
45. Wegiel J, Kuchna I, Nowicki K, Imaki H, Marchi E, Ma SY et al. The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes. Acta Neuropathol 2010; 119(6): 755-770.
46. Weidenheim KM, Goodman L, Dickson DW, Gillberg C, Rastam M, Rapin I. Etiology and pathophysiology of autistic behavior: clues from two cases with an unusual variant of neuroaxonal dystrophy. J Child Neurol 2001; 16(11): 809-819.
47. Whitney ER, Kemper TL, Rosene DL, Bauman ML, Blatt GJ. Density of cerebellar basket and stellate cells in autism: evidence for a late developmental loss of Purkinje cells. J Neurosci Res 2009; 87(10): 2245-2254.
48. Williams RS, Hauser SL, Purpura DP, DeLong GR, Swisher CN. Autism and mental retardation: neuropathologic studies performed in four retarded persons with autistic behavior. Arch Neurol 1980; 37(12): 749-753.
49. Wills S, Cabanlit M, Bennett J, Ashwood P, Amaral DG, Van de Water J. Detection of autoantibodies to neural cells of the cerebellum in the plasma of subjects with autism spectrum disorders. Brain Behav Immun 2009; 23(1): 64-74.
50. Yip J, Soghomonian JJ, Blatt GJ. Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: pathophysiological implications. Acta Neuropathol 2007; 113(5): 559-568.
51. Yip J, Soghomonian JJ, Blatt GJ. Decreased GAD65 mRNA levels in select subpopulations of neurons in the cerebellar dentate nuclei in autism: an in situ hybridization study. Autism Res 2009; 2(1): 50-59.
52. Zikopoulos B, Barbas H. Changes in prefrontal axons may disrupt the network in autism. J Neurosci 2010; 30(44): 14595-14609.
Reviews or hypothesis papers
1. Acosta MT, Pearl PL. The neurobiology of autism: new pieces of the puzzle. Curr Neurol Neurosci Rep 2003; 3(2): 149-156.
2. Akshoomoff N, Pierce K, Courchesne E. The neurobiological basis of autism from a developmental perspective. Dev Psychopathol 2002; 14(3): 613-634.
3. Amaral DG, Schumann CM, Nordahl CW. Neuroanatomy of autism. Trends Neurosci 2008; 31(3): 137-145.
4. Bauman ML, Kemper TL. The neuropathology of the autism spectrum disorders: what have we learned? Novartis Found Symp 2003; 251: 112-122; discussion 122-118, 281-197.
5. Bauman ML, Kemper TL. Neuroanatomic observations of the brain in autism: a review and future directions. Int J Dev Neurosci 2005; 23(2-3): 183-187.
6. Casanova MF. The neuropathology of autism. Brain Pathol 2007; 17(4): 422-433.
7. Courchesne E. Neuroanatomic imaging in autism. Pediatrics 1991; 87(5 Pt 2): 781-790.
8. Courchesne E. Brainstem, cerebellar and limbic neuroanatomical abnormalities in autism. Curr Opin Neurobiol 1997; 7(2): 269-278.
9. Courchesne E, Redcay E, Morgan JT, Kennedy DP. Autism at the beginning: microstructural and growth abnormalities underlying the cognitive and behavioral phenotype of autism. Dev Psychopathol 2005; 17(3): 577-597.
10. Courchesne E, Townsend J, Akshoomoff NA, Saitoh O, Yeung-Courchesne R, Lincoln AJ et al. Impairment in shifting attention in autistic and cerebellar patients. Behav Neurosci 1994; 108(5): 848-865.
11. Jellinger KA. Rett Syndrome -- an update. J Neural Transm 2003; 110(6): 681-701.
12. Johnston MV, Hohmann C, Blue ME. Neurobiology of Rett syndrome. Neuropediatrics 1995; 26(2): 119-122.
13. Kemper TL, Bauman ML. The contribution of neuropathologic studies to the understanding of autism. Neurol Clin 1993; 11(1): 175-187.
14. Kemper TL, Bauman ML. Neuropathology of infantile autism. Mol Psychiatry 2002; 7 Suppl 2: S12-13.
15. Paya Gonzalez B, Fuentes Menchaca N. Neurobiology of autism: neuropathology and neuroimaging studies. Actas Esp Psiquiatr 2007; 35(4): 271-276.
16. Penn HE. Neurobiological correlates of autism: a review of recent research. Child Neuropsychol 2006; 12(1): 57-79.
17. Pickett J, London E. The neuropathology of autism: a review. J Neuropathol Exp Neurol 2005; 64(11): 925-935.
18. Schmitz C, Rezaie P. The neuropathology of autism: where do we stand? Neuropathol Appl Neurobiol 2008; 34(1): 4-11.
19. Schmitz C, van Kooten IA, Hof PR, van Engeland H, Patterson PH, Steinbusch HW. Autism: neuropathology, alterations of the GABAergic system, and animal models. Int Rev Neurobiol 2005; 71: 1-26.
20. Sweeten TL, Posey DJ, Shekhar A, McDougle CJ. The amygdala and related structures in the pathophysiology of autism. Pharmacol Biochem Behav 2002; 71(3): 449-455.
Rett syndrome
1. Armstrong DD. The neuropathology of the Rett syndrome. Brain Dev 1992; 14 Suppl: S89-98.
2. Armstrong DD. The neuropathology of Rett syndrome--overview 1994. Neuropediatrics 1995; 26(2): 100-104.
3. Armstrong DD. Rett syndrome neuropathology review 2000. Brain Dev 2001; 23 Suppl 1: S72-76.
4. Armstrong DD. Neuropathology of Rett syndrome. J Child Neurol 2005; 20(9): 747-753.
5. Armstrong DD, Dunn JK, Schultz RJ, Herbert DA, Glaze DG, Motil KJ. Organ growth in Rett syndrome: a postmortem examination analysis. Pediatr Neurol 1999; 20(2): 125-129.
6. Belichenko PV, Oldfors A, Hagberg B, Dahlstrom A. Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents. Neuroreport 1994; 5(12): 1509-1513.
7. Bertrand E, Lechowicz W, Szpak GM, Lewandowska E, Dymecki J, Wierzba-Bobrowicz T. Limbic neuropathology in idiopathic Parkinson's disease with concomitant dementia. Folia Neuropathol 2004; 42(3): 141-150.
8. Blue ME, Naidu S, Johnston MV. Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome. Exp Neurol 1999; 156(2): 345-352.
9. Brucke T, Sofic E, Killian W, Rett A, Riederer P. Reduced concentrations and increased metabolism of biogenic amines in a single case of Rett-syndrome: a postmortem brain study. J Neural Transm 1987; 68(3-4): 315-324.
10. Colantuoni C, Jeon OH, Hyder K, Chenchik A, Khimani AH, Narayanan V et al. Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. Neurobiol Dis 2001; 8(5): 847-865.
11. Cornford ME, Philippart M, Jacobs B, Scheibel AB, Vinters HV. Neuropathology of Rett syndrome: case report with neuronal and mitochondrial abnormalities in the brain. J Child Neurol 1994; 9(4): 424-431.
12. Gibson JH, Slobedman B, K NH, Williamson SL, Minchenko D, El-Osta A et al. Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain. BMC Neurosci 2010; 11: 53.
13. Itoh M, Takashima S. [Neuropathology and immunohistochemistry of brains with Rett syndrome]. No To Hattatsu 2002; 34(3): 211-216.
14. Jellinger K, Armstrong D, Zoghbi HY, Percy AK. Neuropathology of Rett syndrome. Acta Neuropathol 1988; 76(2): 142-158.
15. Jellinger K, Grisold W, Armstrong D, Rett A. Peripheral nerve involvement in the Rett syndrome. Brain Dev 1990; 12(1): 109-114.
16. Jellinger K, Seitelberger F. Neuropathology of Rett syndrome. Am J Med Genet Suppl 1986; 1: 259-288.
17. Johnston MV, Jeon OH, Pevsner J, Blue ME, Naidu S. Neurobiology of Rett syndrome: a genetic disorder of synapse development. Brain Dev 2001; 23 Suppl 1: S206-213.
18. Kerr AM, Armstrong DD, Prescott RJ, Doyle D, Kearney DL. Rett syndrome: analysis of deaths in the British survey. Eur Child Adolesc Psychiatry 1997; 6 Suppl 1: 71-74.