| The overlapping spectrum of rett and angelman syndromes: a clinical review. | |
| | |
MedLine Citation:
|
PMID: 17980307 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Rett and Angelman syndromes comprise part of the spectrum of neurologic disorders associated with autism. Their clinical presentations overlap, with both presenting in later infancy with global developmental delays, severe speech and communication impairments, progressive microcephaly, seizures, autistic behaviors, and characteristic albeit different movement disorders and stereotypic hand movements. Although other features can help differentiate these disorders, significant phenotypic overlap and variation in severity sometimes cloud the underlying diagnosis. Rett syndrome is caused by a mutation in the MECP2 gene located on Xq28, whereas Angelman syndrome results from the loss of UBE3A function on chromosomal region 15q11-q13 related to a variety of molecular genetic mechanisms. Recent advances have uncovered interactions between these and other genes that affect the function and structure of neurons in the brain. The reversal of symptoms of Rett syndrome in a mature mouse model suggests the possibility for treatment of these and perhaps other autism-related disorders in the future. |
| | |
Authors:
|
Kerry Baldwin Jedele |
Related Documents
:
|
15670717 - 3beta-hydroxysterol delta7-reductase and the smith-lemli-opitz syndrome. 11912187 - Loss of function of axonemal dynein mdnah5 causes primary ciliary dyskinesia and hydroc... 19949877 - Selection of patients with germline mlh1 mutated lynch syndrome by determination of mlh... 3087197 - Chromosome findings in the rett syndrome and a test of a two-step mutation theory. 7142277 - Suprapatellar plica synovialis: a common arthrographic finding. 7709047 - Understanding and coping with neurological impairment. |
Publication Detail:
|
Type: Journal Article; Review |
Journal Detail:
|
Title: Seminars in pediatric neurology Volume: 14 ISSN: 1071-9091 ISO Abbreviation: Semin Pediatr Neurol Publication Date: 2007 Sep |
Date Detail:
|
Created Date: 2007-11-05 Completed Date: 2008-02-01 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9441351 Medline TA: Semin Pediatr Neurol Country: United States |
Other Details:
|
Languages: eng Pagination: 108-17 Citation Subset: IM |
Affiliation:
|
Department of Pediatrics, Gundersen Lutheran Medical Center, La Crosse, WI 54601, USA. kbjedele@gundluth.org |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Andersen Syndrome
/
complications*,
diagnosis*,
genetics Humans Rett Syndrome / complications*, diagnosis*, genetics |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Iliofemoral venous thrombosis.
Next Document: Microcephaly syndromes.