Alan K Percy M.D.

Professor and Associate Director CIRC

Alan K Percy University of Alabama Intellectual and Developmental Disabilities Research Center
University of Alabama at Birmingham, Civitan International Research Center
1530 Third Ave. South
Birmingham, AL 35294-0021
205-934-8900 (tel)
205-975-6330 (fax)

Biography/Curriculum Vitae:
biosketch MRRC 1105.doc

Research Interests:
Neurodevelopmental Disabilities; Rett syndrome; Inherited Neurometabolic Diseases

Narrative of Current Research Efforts:
Dr. Percy has more than 30 years of experience in neurodevelopmental and related disorders and is recognized nationally and internationally for his achievements in this field. Dr. Percy has occupied prominent leadership positions in academic neurological societies. Dr Percy's research activities involve clinical and basic studies of Rett syndrome, a neurodevelopmental disorder predominantly affecting females. On-going studies include an examination of phenotype-genotype comparisons in individuals with mutations in MECP2, the gene associated with Rett syndrome as well as other neurobehavioral phenotypes, a longitudinal study of individuals with Rett syndrome and/or mutations in MECP2, and fundamental studies in neural cell and slice preparationsregarding the effects of specific MECP2 mutations on synaptodendritic structure and function.
In addition, Dr. Percy is engaged with Dr. Fred Biasini in a study of the possible neurocognitive and neurobehavioral effects of PCB exposure in middle school-age children.

Major Honors and Awards:

Hower Award, Child Neurology Society, October, 2005; President, American Board of Psychiatry and Neurology, 2005; President, Child Neurology Foundation, 2003-2006; Doctor Honoris Causa, Goteborg Unbiversity, Goteborg, Sweden, October, 2002; President, Child Neurology Society, 1997-1999; William Bew White Professor of Pediatrics (Neurology)

Representative Publications:

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

Zachor DA, Moore JF, Brezausek C, Theibert A, Percy AK.  Cocaine inhibits NGF-induced PC12 cell differentiation through D1-type dopamine receptors.  Brain Res 869:85-97, 2000.

Zachor DA, Moore JF, Brezausek CM, Theibert AB, Percy AK.  Cocaine inhibition of differentiation in NGF-induced PC12 cells is independent of ras signaling. Int J Dev Neuroscience 18:765-772, 2000.

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.

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.

Kyllerman M, Månsson J-E, Lichtenstein M, Percy AK, Nordborg C.  Distal infantile neuroaxonal dystrophy-a new familial variant with perineuronal argyrophilic bodies. Acta Neuropathol 102:83-88,2001.

Palmer CA, Percy AK.  Neuropathology of the Occipital Horn Syndrome.  J Child Neurol  16:764-766, 2001

Breedveld G, Percy AK, Srinidhi L, de Vries BBA, Yapijakis C, Dure LS, Ippel E, Sandkuijl LA, MacDonald ME, Heutink P, Arts WFM.  Clinical and Genetic Heterogeneity in Benign Hereditary Chorea.  Neurology 59(4): 579-584,  2002.

Breedveld G, van Dongen JWF, Danesino C, Guala A, Percy AK, Dure LS, Harper P, van Linde H, Joosse M, MacDonald ME, de Vries BBA, Arts WFM, Oostra BA, Krude H, Heutink P.  Mutations in TITF-1 are associated with Benign Hereditary Chorea.  Hum Molecul Genet 11:971-979, 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.

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.

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

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.

Created 8/16/2005 by
Last modified 3/20/2007 by Alan Percy