Literature DB >> 2073236

Extrapyramidal involvement in Rett's syndrome.

P M FitzGerald1, J Jankovic, D G Glaze, R Schultz, A K Percy.   

Abstract

Extrapyramidal dysfunction is poorly characterized in Rett's syndrome, a neurodegenerative disorder in girls. We studied the motor and behavioral findings in 32 Rett's syndrome patients, 21 months to 30 years old. In addition to the typical stereotyped movements and scoliosis, other motor disturbances included bruxism, sialorrhea, ocular deviations, parkinsonian findings, dystonia, myoclonus, and athetosis. The types of movement disorders seemed to be age-related, with the hyperkinetic disorders occurring in the younger patients and the bradykinetic disorders occurring more frequently in the older patients.

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Year:  1990        PMID: 2073236     DOI: 10.1212/wnl.40.2.293

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  12 in total

1.  The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.

Authors:  Laila Robertson; Sonĵa E Hall; Peter Jacoby; Carolyn Ellaway; Nick de Klerk; Helen Leonard
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2006-03-05       Impact factor: 3.568

Review 2.  Brief report: neuroanatomic observations of the brain in pervasive developmental disorders.

Authors:  M L Bauman
Journal:  J Autism Dev Disord       Date:  1996-04

Review 3.  Mouse models of neurodevelopmental disease of the basal ganglia and associated circuits.

Authors:  Samuel S Pappas; Daniel K Leventhal; Roger L Albin; William T Dauer
Journal:  Curr Top Dev Biol       Date:  2014       Impact factor: 4.897

4.  Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.

Authors:  Marisela E Dy; Jeff L Waugh; Nutan Sharma; Heather O'Leary; Kush Kapur; Alissa M D'Gama; Mustafa Sahin; David K Urion; Walter E Kaufmann
Journal:  Pediatr Neurol       Date:  2017-06-02       Impact factor: 3.372

5.  Epilepsy and the natural history of Rett syndrome.

Authors:  D G Glaze; A K Percy; S Skinner; K J Motil; J L Neul; J O Barrish; J B Lane; S P Geerts; F Annese; J Graham; L McNair; H-S Lee
Journal:  Neurology       Date:  2010-03-16       Impact factor: 9.910

6.  A study of the treatment of Rett syndrome with folate and betaine.

Authors:  Daniel G Glaze; Alan K Percy; Kathleen J Motil; Jane B Lane; Janet S Isaacs; Rebecca J Schultz; Judy O Barrish; Jeffrey L Neul; William E O'Brien; E O'Brian Smith
Journal:  J Child Neurol       Date:  2009-02-18       Impact factor: 1.987

7.  De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

Authors:  Chihiro Ohba; Shin Nabatame; Yoshitaka Iijima; Kiyomi Nishiyama; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Fumiaki Tanaka; Keiichi Ozono; Hirotomo Saitsu; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2014-03-13       Impact factor: 3.172

Review 8.  Preclinical research in Rett syndrome: setting the foundation for translational success.

Authors:  David M Katz; Joanne E Berger-Sweeney; James H Eubanks; Monica J Justice; Jeffrey L Neul; Lucas Pozzo-Miller; Mary E Blue; Diana Christian; Jacqueline N Crawley; Maurizio Giustetto; Jacky Guy; C James Howell; Miriam Kron; Sacha B Nelson; Rodney C Samaco; Laura R Schaevitz; Coryse St Hillaire-Clarke; Juan L Young; Huda Y Zoghbi; Laura A Mamounas
Journal:  Dis Model Mech       Date:  2012-11       Impact factor: 5.758

Review 9.  The relationship of Rett syndrome and MECP2 disorders to autism.

Authors:  Jeffrey Lorenz Neul
Journal:  Dialogues Clin Neurosci       Date:  2012-09       Impact factor: 5.986

10.  Improvement of the Rett syndrome phenotype in a MeCP2 mouse model upon treatment with levodopa and a dopa-decarboxylase inhibitor.

Authors:  Karolina Szczesna; Olga de la Caridad; Paolo Petazzi; Marta Soler; Laura Roa; Mauricio A Saez; Stéphane Fourcade; Aurora Pujol; Rafael Artuch-Iriberri; Marta Molero-Luis; August Vidal; Dori Huertas; Manel Esteller
Journal:  Neuropsychopharmacology       Date:  2014-06-11       Impact factor: 7.853

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