Rett Syndrome Research and Publications

Rett Syndrome Research

Dr. Alan Percy, directs research efforts on Rett Syndrome (RS) at the Civitan International Research Center and its UAB Sparks-Civitan Clinics. Importantly, he is also an internationally recognized expert in the diagnosis and care of children with Rett Syndrome. Dr. Percy and his team are participants in the national multi-site Rare Disease Clinical Research Center program.

Ongoing Research

Phenotype-Genotype correlations
Attempts at providing phenotype-genotype correlations with respect to RS and mutations in MECP2 have led to mixed results. This may be due in part to the multiplicity of mutations (more than 200) associated with RS and the fact that different studies are deriving their comparisons from a different set of mutations. Comparisons must be based on carefully conducted clinical evaluations using agreed upon clinical criteria and clinical severity scales. We have moved our focus to the more common mutations associated with RS in developing these correlations. One factor that has major influence on phenotype is the degree of non-random X-chromosome inactivation (XCI). Systematic study of XCI has not been performed. Further, XCI may vary remarkably between tissues. Thus, correlations based on sampling peripheral tissues such as lymphocytes may be misleading.

Links to other scientists studying RS as well as public information about research efforts and organizations focusing on RS can be found on our Favorite Links page.

Publications from this Center

Dr. Percy and his colleagues have published extensively on a wide range of topics of interest to persons interested in RS.

Chapters/Monographs

1. Jellinger, K., Armstrong, D.L., Zoghbi, H., Percy, A.K. The Rett Syndrome:An overview, in Disorders of Movement in Psychiatry and Neurology, Joseph, AB, Young, RR (eds), Blackwell Scientific Publications, Cambridge, 1992, pp 667-678.

2. Sekul, E.A., Percy, A.K. Rett Syndrome: Clinical features, genetic considerations and the search for a biological marker, in Current Neurology, Appel SH (ed), Mosby-Year Book, Inc., St. Louis, 1992, pp. 173-200.

3. Oldfors, A., Sourander, P., Percy, A.K. Neuropathology and neurochemistry of Rett syndrome, in Rett Syndrome - Clinical and Biologic Aspects, Hagberg B (ed), Clinics in Developmental Medicine No. 127, Mac Keith Press, London, 1993, pp. 86-98.

4. Percy, A.K., Hagberg, B. Therapy in Rett syndrome: Drug trials and failures, in Rett Syndrome - Clinical and Biologic Aspects, Hagberg B (ed), Clinics in Developmental Medicine No. 127, Mac Keith Press, London, 1993, pp. 108-110.

5. Hagberg, B., Anvret, M., Percy, A.K., Wahlström, J. Rett syndrome: Aspects on Origin - Future Approach, in Rett Syndrome - Clinical and Biologic Aspects, Hagberg B (ed), Clinics in Developmental Medicine No. 127, Mac Keith Press, London, 1993, pp. 111-116.

6. Percy, A.K. Rett Syndrome. In Principles and Practice of Pediatrics, Oski, FA, DeAngelis, C, Feigin, RD, Warshaw, JB (eds), 2nd Edition, J.B. Lippincott, Philadelphia, 1994, pp. 2112-2113.

7. Percy, A.K. Rett Syndrome. Current Opinion in Neurology 8:156-160,1995.

8. Percy, A.K. (Editor). Developmental Disorders. Current Opinion in Neurology 10:129-175,1997.

9. Gillberg C, Hagberg B, Percy AK (Editors). Hand in Hand with Rett Syndrome. Europ Ch Adol Psychiatr 6(Suppl 1):1-108,1997.

10. Percy AK. Neurobiology and Neurochemistry of Rett syndrome. Europ Ch Adol Psychiatr 6(Suppl 1):80-82,1997.

11. Percy AK. Rett syndrome. Current Psychiatric Diagnosis & Treatment, Baxter LR, Friedel RO (eds). Williams and Wilkins, Philadelphia. 1998, pp.158-159.

12. Percy AK, Schanen C, Dure LS. The Genetic Basis of Rett Syndrome: Candidate Gene Considerations. Molecular Genetics and Metabolism 64:1-6,1998.

13. Percy AK. Rett Syndrome. In Current Management in Child Neurology, Maria BL (ed), BC Decker, London, 1999, pp. 196-199.

14. Percy AK. Rett Syndrome. In Principles and Practice of Pediatrics, Oski, FA, DeAngelis, C, Feigin, RD, Warshaw, JB (eds), 3rd Edition, J.B. Lippincott Williams & Wilkins, Philadelphia, 1999, pp. 2004-2005.

15. Dure, IV, L.S., Percy, A.K. The Rett Syndrome: An overview, in Disorders of Movement in Psychiatry and Neurology, Joseph, AB, Young, RR (eds), 2nd edition, Blackwell Scientific Publications, Cambridge, 1999,pp. 613-622.

16. Percy, AK. Genetics of Rett syndrome: Properties of the newly discovered gene and pathobiology of the disorder. Curr Opin Pediatr 12:589-595, 2000.

17. Percy, A.K. Clinical Trials and Treatment Prospects. Mental Retardation and Developmental Disabilities Research Reviews 8:106-111,2002.

18. Percy, A.K. Rett Syndrome: Current Status and New Vistas. Neurology Clinics of North America, 20:1125-1141,2002.

19. Percy, A.K., Dragich, J., Schanen C. Rett Syndrome: Clinical-Molecular Correlates. In Genetics and Neurobehavioral Disorders, Fisch, G. (ed), Humana Press, Totowa, NJ. 2003, pp 391-418.

20. Percy, A.K. Rett syndrome. In Encyclopedia of Neurological Sciences, Aminoff, MJ, Daroff, RB (eds), Volume 4, Academic Press, San Diego, pp. 165-171,2003.

21. Percy, A.K. Rett Syndrome: Clinical Update and Future Prospects. In Developmental Disabilities: Delivery of Medical Care for Children and Adults, 2nd Edition, Rubin IL, Crocker AC (ed), in press.

Full Papers

1. Percy, A.K., Zoghbi, H., and Riccardi, V.M. Rett Syndrome: Initial Experience with an Emerging Clinical Entity. Brain Dev 7:300-304, 1985.

2. Zoghbi, H.Y., Percy, A.K., Glaze, D.G., Butler, I.J., Riccardi, V.M. Reduction of Biogenic Amines in Rett Syndrome. New Eng J Med 313:921-924, 1985.

3. Glaze, D.G., Frost, Jr., J.D., Zoghbi, H.Y. and Percy, A.K. Rett Syndrome: Characterization of Respiratory Patterns and Sleep. Ann Neurol 23:377-382, 1987.

4. Percy, A.K., Zoghbi, H.Y., Glaze, D.G. Rett Syndrome: Discrimination of Typical and Variant Forms. Brain Dev 9:458-461, 1987.

5. Glaze, D. G., Frost, Jr., J.D., Zoghbi, H.Y. and Percy, A.K. Rett Syndrome: Correlation of EEG Characteristics with Clinical Staging. Arch Neurol 44:1053-1056, 1987.

6. Jellinger, K., Armstrong, D.L., Zoghbi, H.Y., and Percy, A.K. Neuropathology of Rett Syndrome. Acta Neuropath 76:142-158, 1988.

7. Trevathan, E., Moser, H.W., Opitz, J.M., Percy, A.K., et al. Diagnostic Criteria for Rett Syndrome. Ann Neurol 23:425-428, 1988.

8. Percy, A.K., Haas, R., Kolodny, E., Moser, H., Naidu, S. Research in Rett Syndrome: Past, Present, and Future. J Child Neurol 3(Suppl):S72-S75, 1988.

9. Percy, A.K., Haas, R., Kolodny, E., Moser, H., Naidu, S. Recommendations Regarding Handling of the Necropsy in Rett Syndrome. J Child Neurol 3(Suppl):S91-S93, 1988.

10. Percy, A.K. and Jankovic, J. Rett Syndrome and Autism: Comparative Motor-Behavioral Analysis. J Child Neurol 3:(Suppl):S65-S76, 1988.

11. Zoghbi, H.Y., Milstien, S., Butler, I.J.., Smith, E.O., Kaufman, S., Glaze, D.G., Percy, A.K. Cerebrospinal Fluid Biogenic Amines and Biopterin in Rett Syndrome. Ann Neurol 25:56-60, 1989.

12. Lekman, A., Witt-Engerström, I, Gottfries, J., Hagberg, B., Percy, A.K., Svennerholm, L. Rett Syndrome: Biogenic Amines and Metabolites in Postmortem Brain. Pediatr Neurol 5:357-362, 1989.

13. Zoghbi, H.Y., Ledbetter, D.H., Schultz, R.J., Percy, A.K., Glaze, D.G. A de novo X;3 Translocation in Rett Syndrome. Am J Med Genet 35:148-151, 1990.

14. Percy, A.K. The Rett Syndrome Program Project at the Baylor College of Medicine. Brain and Dev 12:8-10, 1990.

15. Lekman, A., Witt-Engerström, I., Holmberg, B., Hagberg, B., Percy, A.K., Svennerholm, L. CSF and Urine Biogenic Amine Metabolites in Rett Syndrome. Clin Genet 37:173-178, 1990.

16. Zoghbi, H.Y., Percy, A.K., Schultz, R.J., Fill, C. Patterns of X Chromosome Inactivation in Rett Syndrome. Brain and Dev 12:131-135, 1990.

17. FitzGerald, P.M., Jankovic, J., Glaze, D.G., Schultz, R.J., Percy, A.K. Extrapyramidal Involvement in Rett Syndrome. Neurol 40:293-295, 1990.

18. Oldfors, A., Sourander, P., Armstrong, D.L., Percy, A.K., Witt-Engerström, I., Hagberg, B. Rett Syndrome: Cerebellar Pathology. Pediatr Neurol 6:310-314, 1990.

19. FitzGerald, P.M., Jankovic, J., Percy, A.K. Rett Syndrome and Associated Movement Disorders. Movement Disorders 5:195-202, 1990.

20. Ellison, K.A., Fill, C.P., Terwilliger, J., DeGennaro, L.J., Martin-Gallardo, A., Anvret, M., Percy, A.K., Ott, J., Zoghbi, H. Examination of X Chromosome Markers in Rett Syndrome: Exclusion Mapping with a Novel Variation on Multilocus Linkage Analysis. Am J Hum Genet 50:278-287, 1992.

21. Percy, A.K.: Neurochemistry of Rett Syndrome. Brain Dev 14(suppl):S57-S62, 1992.

22. Hagberg B., Naidu, S., Percy, A.K.: Tokyo Symposium on Rett Syndrome: Neurobiological Approach. Brain Dev 14(suppl): S151-S153, 1992.

23. Percy, A.K.: Rett syndrome: The Recent Advances in Genetic Studies in the USA. Brain Dev 14(suppl):S104-S105, 1992.

24. Schultz, R.J., Glaze, D.G., Motil, K.J., Armstrong, D.D., Del Junco, D.J., Hubbard, C., Percy, A.K. The Pattern of Growth Failure in Rett Syndrome. Amer J Dis Child:633-637, 1993.

25. Kozinetz, C.A., Skender, M.L., MacNaughton, N., Almes, M.J., Schultz, R.J., Percy, A.K., Glaze, D.G. Epidemiology of Rett Syndrome: A Population-based Registry. Pediatrics 91:445-450, 1993.

26. Matsuishi, T., Urabe, F., Percy, A.K., Komori, H., Yamashita, Y., Schultz, R.S., Ohtani, Y., Kuriya, N, Kato, H. Abnormal Carbohydrate Metabolism in Cerebrospinal Fluid in Rett Syndrome. J Child Neurol 9:26-30,1994.

27. Motil, K.J., Schultz, R.J., Brown, B., Glaze, D.G., Percy, A.K. Altered Energy Balance May Account for Growth Failure in Rett Syndrome. Pediatr Neurol 9:315-319,1994.

28. Sekul, E.A., Moak, J.P., Schultz, R.J., Glaze, D.G., Dunn, J.K., Percy, A.K. Electrocardiographic Findings in Rett Syndrome: An Explanation for Sudden Death? J Pediatr 125:80-82,1994.

29. Percy, A.K., Glaze, D.G., Schultz, R.J., Zoghbi, H.J., Williamson, W.D., Frost, Jr., J.D., Jankovic, J.J., del Junco, D.J., Skender, M., Waring, S., Myer, E.C. Rett Syndrome: Controlled Study of an Oral Opiate Antagonist, Naltrexone. Ann. Neurol. 35:464-470,1994.

30. Kozinetz, C.A., Skender, M.L., MacNaughton, N., del Junco, D.J., Almes, M.J., Schultz, R.J., Glaze, D.G., Percy, A.K. Population-based Registries Using Multidisciplinary Reporters: A Method for the Study of Pediatric Neurologic Disorders. J. Clin Epidemiol 48:1069-1076,1995.

31. Hanefeld, F., Hagberg, B., Percy, A.K. Molecular and Neurobiology Aspects of Rett Syndrome. Neuropediatrics 26:60-61,1995.

32. Percy, AK. Rett Syndrome: The Evolving Picture of a Disorder of Brain Development. Dev Brain Dysfunct 9:180-186,1996.

33. Matsuishi, T., Nagamitsu, S., Yamashita, Y., Murakami, Y., Kimura, A., Sakai, T., Shoji, H., Kato, H., Percy, A.K. Decreased Cerebrospinal Fluid Levels of Substance P in Patients with Rett Syndrome. Ann Neurol 42:978-981, 1997.

34. Schanen, N.C., Kurczynski, T.W., Brunelle, D., Woodcock, M., Dure, L.S. IV, Percy, A.K. Neonatal Encephalopathy in Two Male Children in Families with Recurrent Rett Syndrome. J Child Neurol 13:229-231,1998.

35. Schultz, R. Glaze, D. Motil, K., Hebert, D., Percy, A. Hand and Foot Growth Failure in Rett Syndrome. J Child Neurol 12:71-74,1998.

36. Percy AK, Isaacs JS, Lane JB. Rett syndrome: Clinical experience in Alabama. Revista Medica, 4:33-36, 1999.

37. Pan JW, Lane JB, Hetherington H, Percy AK. Rett syndrome: 1H spectroscopic imaging at 4.1T. J Child Neurol 14:524-528,1999.

38. Satoi M, Matsuishi T, Yamada S, Yamashita Y, Ohtaki E, Mori K, Riikonen R, Kato H, Percy AK. Decreased cerebrospinal fluid levels of b-phenylethylamine in patients with Rett syndrome. Ann Neurol 47:801-803, 2000.

39. Amir R, Van den Veyver I, Schultz R, Malicki D, Tran C, Philippi A, Percy AK, Motil K, Lichtarge O, Smith EO, Glaze DG, Zoghbi HY. Influence of mutation type and X chromosome inactivation on the phenotype of Rett syndrome. Ann Neurol 47:670-679, 2000.

40. Percy AK. Rett syndrome: Clinical correlates of the newly discovered gene. Brain Dev 23:S202-S206,2001.

41. Isaacs JS, Murdock M, Lane J, Percy AK. Feeding problems in girls with Rett syndrome and other developmental disabilities: What they eat. Journal of the American Dietetic Association 103:224-230,2003.

42. Schanen C, Houwink-Manville I, Dorrani N, Lane J, Everett R, Feng A, Cantor RM, Percy A. Phenotypic Manifestations of MECP2 Mutations in Classical and Atypical Rett Syndrome. Am J Med Genet: in press, 2003.