| Lessons from fragile X regarding neurobiology, autism, and neurodegeneration. | |
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MedLine Citation:
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PMID: 16511373 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The fragile X mental retardation 1 gene (FMR1) mutation causes two disorders: fragile X syndrome (FXS) in those with the full mutation and the fragile X-associated tremor/ataxia syndrome (FXTAS) in some older individuals with the premutation. FXS is caused by a deficiency of the FMR1 protein (FMRP) leading to dysregulation of many genes that create a phenotype with ADHD, anxiety, and autism. FXTAS is caused by the elevation of FMR1-mRNA to levels 2 to 8 times normal in the premutation. This causes an RNA gain of function toxicity leading to brain atrophy, white matter disease, neuronal and astrocytic inclusion formation, and subsequent ataxia, intention tremor, peripheral neuropathy, and cognitive decline. The neurobiology and pathophysiology of FXS and FXTAS are described in detail. |
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Authors:
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Randi J Hagerman |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Journal of developmental and behavioral pediatrics : JDBP Volume: 27 ISSN: 0196-206X ISO Abbreviation: J Dev Behav Pediatr Publication Date: 2006 Feb |
Date Detail:
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Created Date: 2006-03-02 Completed Date: 2006-08-02 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 8006933 Medline TA: J Dev Behav Pediatr Country: United States |
Other Details:
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Languages: eng Pagination: 63-74 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, M.I.N.D. Institute, University of California Davis Health System, Sacramento, California 95817, USA. randi.hagerman@ucdmc.ucdavis.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Alleles Animals Anxiety Disorders / diagnosis, genetics, psychology Attention Deficit Disorder with Hyperactivity / diagnosis, genetics, psychology Autistic Disorder / diagnosis, genetics*, psychology Child DNA Mutational Analysis Disease Models, Animal Female Fragile X Mental Retardation Protein / genetics Fragile X Syndrome / diagnosis, genetics*, psychology Genetic Counseling Genetic Testing Heredodegenerative Disorders, Nervous System / diagnosis, genetics*, psychology Heterozygote Detection Humans Male Mental Retardation / diagnosis, genetics*, psychology Pedigree Phenotype RNA, Messenger / genetics Trinucleotide Repeats |
| Grant Support | |
ID/Acronym/Agency:
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HD02274/HD/NICHD NIH HHS; HD36071/HD/NICHD NIH HHS; NS044299/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/RNA, Messenger; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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