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Faculty Detail    
Name ALAN K PERCY
  
Campus Address CHB 314 Zip 0011
Phone  (205) 638-2551
E-mail  apercy@uab.edu
Other websites
     

Education
Undergraduate  Harvard College    1960  AB 
Medical School  Stanford University    1965  MD 
Residency  Stanford University Hospital    1969  Residency in Pediatrics 
Fellowship  Johns Hopkins University Hospital    1972  Fellowship in Neurology/Child Neurology 

Certifications
Pediatrics  1974 
Neurology with Special Competence in Child Neurology  1978 
Neurodevelopmental Disabilities  2001 


Faculty Appointment(s)
Appointment Type Department Division Rank
Primary  Ped - Neurology  Ped - Neurology Professor Clinical
Center  Civitan International Research Center  Civitan International Research Center Professor Clinical
Center  Ctr for Clinical & Translational Sci  Ctr for Clinical & Translational Sci Professor Clinical

Graduate Biomedical Sciences Affiliations
Integrative Genetics Graduate Program 
Medical Scientist Training Program 
Neurosciences 

Biographical Sketch 
NAME Alan Percy POSITION TITLE PI, Rare Disease Clinical Research Consortium Acting Director, CIRC eRA COMMONS USER NAME: APercy EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as nursing, and include postdoctoral training.) INSTITUTION AND LOCATION DEGREE (if applicable) YEAR(s) FIELD OF STUDY Harvard College AB 1960 Biochemistry Stanford University MD 1965 Medicine Stanford University Residency 1969 Pediatrics Johns Hopkins University Fellowship 1971 Pediatric Neurology Please refer to the application instructions in order to complete sections A, B, and C of the Biographical Sketch. Positions and Honors: 1971-72 Assistant Professor of Neurology, Johns Hopkins Univ., Sch Med, Baltimore, MD 1972-76 Assistant Professor of Pediatrics, Charles R. Drew PG Med Sch & Martin Luther King, Jr Hosp; Asst. Prof-in Residence, Step II, Dept Peds, UCLA Sch of Med 1976-77 Director, Office of Research Programs, Charles R. Drew PG Med School 1976-79 Associate Professor of Pediatrics, Charles R. Drew PG Med Sch & MLK Gen Hosp 1977-79 Associate Dean, Office of Research, Charles R. Drew PG Med School 1979-88 Associate Professor of Pediatrics (Neurology), Baylor College of Med, Houston 1988-92 Professor of Pediatrics (Neurology) Baylor College of Med, Houston 1992-03 Professor and Director, Div. of Pediatric Neurology, UAB School of Med 1992- Director, Clinical Neuroscience, Civitan International Research Center for Developmental and Learning Disorders, UAB 1994-02 Vice-Chairman of Medical Services, Dept. of Pediatrics, UAB 1993-96 Member, National Advisory Council, National Institute of Neurological Disorders and Stroke, NIH 1998-05 Director, American Board of Psychiatry and Neurology 2002- Associate Director, Civitan International Research Center 2002 Doctor Honoris Causa Gteborg University, Gteborg, Sweden 2005-06 President, American Board of Psychiatry and Neurology 2005- PI, MRRC

Society Memberships
Organization Name Position Held Org Link
American Academy of Neurology     
American Neurological Association  2nd Vice Preisdent, 2007-2008   
American Pediatric Society     
Child Neurology Society  President, 1997-1999   
Society for Neurochemistry     
 



Research/Clinical Interest
Title
Rare Disease CRC for New Therapies and New Diagnostics
Description
Rare Disease multisite initiative to provide natural history data leading to possible therapies for Rett syndrome, MECP2 Duplication Disorder, and Rett-related Disorders. This is patient-oriented research examining potential phenotype-genotype correlations and related aspects in a large cohort of participants. Role: Grant PI

Selected Publications 
Publication PUBMEDID
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.

Hagberg, B., Hanefeld, F., Percy, A., Skjeldal, O. An update on clinically applicable diagnostic criteria in Rett syndrome. European J Paediatr Neurology 6:293-297,2002.

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 126A:129-140, 2004.

Amir RE, Fang P, Yu Z, Glaze D, Percy AK, Zoghbi HY, Roa BB, Van den Veyver, IB. Mutations in exon 1 of MECP2 are a rare cause of Rett Syndrome. J Medical Genet, on-line publication, 2004.

Neul JL, Maricich SM, Islam M, Barrish J, Smith EO, Bottiglieri T, Hyland K, Humphreys P, Percy A, Glaze D. Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett Syndrome. Neurology 64:2151-2152, 2005.

Percy A, Lane J. Rett Syndrome: Model of Neurodevelopmental Disorders. J Child Neurol 20:718-721, 2005.

Tofil N, Buckmaster M, Callans B, Winkler M, Islam M, Percy A. Deep sedation with Propofol in patients with Rett syndrome. J Child Neurol 21:210-213, 2006.

Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, Ravine D, Percy AK. Early Progressive Encephalopathy in Boys and MECP2 Mutations. Neurology 67:164-166,2006.

Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey MES, Schanen NC, Zappella M, Renieri A, Huppke P, Percy A, for the RettSearch Consortium. Rett Syndrome: Revised Diagnostic Criteria and Nomenclature. Ann Neurol 68:946-951,2010. [eprint ahead of publication, 2010] [PMID: PMC3058521]

Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee H-S, Lane JB,
Barrish JO, Annese F, McNair L, Graham J, Barnes K. Rett Syndrome Diagnostic
Criteria: Lessons from the Natural History Study. Ann Neurol 68:951-955,2010.
[eprint ahead of publication, 2010] [PMID: PMC33021984]

Lane JB, Lee H-S, Smith LB, Cheng P, Percy AK, Glaze DG, Neul JL, Motil KJ, Barrish JO, Skinner SA, Annese F, McNair L, Graham J, Khwaja O, Barnes K, Krischer JP. Clinical severity and quality of life in children and adolescents with
Rett Syndrome. Neurology 77:1812-1818, 2011. [PMID: PMC3233210]


Tarquinio D, Motil K, Hou W, Lee H, Glaze DG, Skinner SA, Neul JL, Annese F,
McNair L, Barrish JO, Geerts SP, Lane JB, Percy AK. Growth Failure in Rett
Syndrome: Specific Growth References. Neurology 79:1653-1661, 2012. [PMID:
PMC3468773]

Chapleau C, Lane J, Kirwin SM, Schanen NC, Vinette KMB, Stubbolo D, MacLeod P, Glaze DG, Neul JL, Skinner SA, Percy A. Detection of Rarely Identified Multiple Mutations in MECP2 do not Contribute to Enhanced Severity in Rett Syndrome. Am J. Med Genet. 161A:1638-1646, 2013. On-line 10.1002/ajmg.a35979, 2013 [PMID: PMC3689857]

Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity
in Rett syndrome. J Med Genet 51:152-158, 2014. published Online First, as 10.1136/jmedgenet-2013-102113, 1/7/14. [PMID: PMC4403764]

Neul JL, Lane JB, Lee H-S, Geerts S Barrish JO, Annese F, Baggett LM, Barnes K, Skinner SA, Motil KJ, Glaze DG, Kaufmann WE, Percy AK. Developmental delay in Rett syndrome: data from the natural history study. Journal of Neurodevelop-mental Disorders 2014, 6:20 [PMID: PMC4112822]

Killian JT, Lane JB, Cutter GR, Skinner SA, Kaufmann WE, Tarquinio DC, Glaze DG, Motil KJ, Neul JL, Percy AK. Pubertal Development in Rett Syndrome Deviates from Typical Females. Pediatr Neurol. 51:769-775,2014. [PMID: PMC4254166]

Tarquinio D, Hou, W, Neul JL, Lane JB, Barnes KV, O'Leary HM, Bruck NM, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Annese F, Baggett L, Barrish JO, Geerts SP, Percy AK. Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis. Pediatr Neurol 52:585-591,2015. doi: 10.1016/j.pediatrneurol.2015.02.007. [PMID: PMC4442062]

Neul J, Glaze D, Percy A, Feyma T, Beisang A, Dinh T, Suter B, Anagnostou E, Snape M, Horrigan J, Jones NE. Improving Treatment Trial Outcomes for Rett Syndrome: the development of Rett-specific anchors for the Clinical Global Impression Scale. J Child Neurol 30(13):1743-8. 2015. Published Online First, as 10.117/jcn.2015.04. [PMC: 25895911] [NIHMSID: 697493]

Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee H-S, Percy AK. The changing face of survival in Rett syndrome and MECP2-related Disorders. Pediatr Neurol 53:402-411,2015. Doi: 10.1016/j.pediatrneurol.2015.06.003 [NIHMS 705517] [PMCID: PMC4509589]

Killian, Jr. JT, Lane JB, Lee H-S, Pelham JH, Skinner SA, Kaufmann WE, Glaze D, Neul JL, Percy AK. Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors. Pediatr Neurol 58:67-74, 2016. available online: 17-MAR-2016 DOI information: 10.1016/j.pediatrneurol.2015.12.021 [NIHMS 771109]

Sajan, SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann
WE, Skinner SA, Friez MJ, Percy AK, Neul JL. Rett Syndrome that is not caused by mutations in MECP2, CDKL5, and FOXG1 is genetically complex, heterogeneous, and enriched in mutations in chromatin regulators. Genet in Med. DOI: 10.1038/gim.2016.42.[PMCID: PMC5107176]


Neul JL, Ward CS, Huang T-W, Herrera JA, Samaco RC, Pitcher MR, Herron A, Skinner SA, Kaufmann WE, Glaze DG, Percy AK. Loss of MeCP2 causes urological dysfunction and contributes to death by kidney failure in mouse models of Rett
Syndrome. PloS One PONE-D-16-11130R1, 2016.

Percy AK. Progress in Rett Syndrome: from discovery to clinical trials. Wien Med Wochenschr 166:325-332, 2016.

Tarquinio DC, Hou W, O’Leary H, Kaufmann WE, Lane JB, Skinner SA, Motil, KJ, Neul JL, Percy AK, Glaze DG.
Longitudinal Course of Epilepsy in Rett Syndrome and Related Disorders. Brain in press, 2016.
 		  
 

Keywords
Rett syndrome, MECP2, phenotype, genotype, natural history, longevity