Literature DB >> 3087183

Rett syndrome. History and general overview.

A Rett.   

Abstract

The syndrome under discussion probably has a much longer history than we know. The first description of 20 years ago noted only the similarities of behavior and neurological, psychological, and social symptoms of the affected patients. The publication by B Hagberg in the US drew world-wide attention to the syndrome. Since the development of the child proceeds unremarkably during the first year of life parents find it particularly difficult to understand and to cope with the subsequent arrest of motor, language and intellectual development. The present lack of a causally effective treatment does not relieve us from the task to do all we can to preserve existing capabilities and functions. Experience tells us that the gaze of the affected children, which seems very intense and is accompanied by hypomimia or amimia, is the focus of any possibility for social contact. Parents often report on their visual contact with the child which should spur greater efforts to work on that phenomenon.

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Year:  1986        PMID: 3087183     DOI: 10.1002/ajmg.1320250503

Source DB:  PubMed          Journal:  Am J Med Genet Suppl        ISSN: 1040-3787


  8 in total

Review 1.  Rett syndrome and MeCP2: linking epigenetics and neuronal function.

Authors:  Mona D Shahbazian; Huda Y Zoghbi
Journal:  Am J Hum Genet       Date:  2002-11-19       Impact factor: 11.025

Review 2.  Brief report: systematic review of Rett syndrome in males.

Authors:  Brian Reichow; Annie George-Puskar; Tara Lutz; Isaac C Smith; Fred R Volkmar
Journal:  J Autism Dev Disord       Date:  2015-10

Review 3.  Rett syndrome: a review of current knowledge.

Authors:  R Van Acker
Journal:  J Autism Dev Disord       Date:  1991-12

Review 4.  Rett Syndrome: Reaching for Clinical Trials.

Authors:  Lucas Pozzo-Miller; Sandipan Pati; Alan K Percy
Journal:  Neurotherapeutics       Date:  2015-07       Impact factor: 7.620

5.  Unconventional transcriptional response to environmental enrichment in a mouse model of Rett syndrome.

Authors:  Bredford Kerr; Pamela A Silva; Katherina Walz; Juan I Young
Journal:  PLoS One       Date:  2010-07-12       Impact factor: 3.240

Review 6.  Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research.

Authors:  Robby Mathew Zachariah; Mojgan Rastegar
Journal:  Neural Plast       Date:  2012-02-09       Impact factor: 3.599

7.  Disruption of the brain-derived neurotrophic factor (BDNF) immunoreactivity in the human Kölliker-Fuse nucleus in victims of unexplained fetal and infant death.

Authors:  Anna M Lavezzi; Melissa F Corna; Luigi Matturri
Journal:  Front Hum Neurosci       Date:  2014-09-04       Impact factor: 3.169

8.  Dendrimer-mediated delivery of N-acetyl cysteine to microglia in a mouse model of Rett syndrome.

Authors:  Elizabeth Nance; Siva P Kambhampati; Elizabeth S Smith; Zhi Zhang; Fan Zhang; Sarabdeep Singh; Michael V Johnston; Rangaramanujam M Kannan; Mary E Blue; Sujatha Kannan
Journal:  J Neuroinflammation       Date:  2017-12-19       Impact factor: 8.322

  8 in total

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