PMID: 16511373Mar 3, 2006Paper

Lessons from fragile X regarding neurobiology, autism, and neurodegeneration

Journal of Developmental and Behavioral Pediatrics : JDBP
Randi J Hagerman

Abstract

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.

References

May 16, 1992·Lancet·G TurnerM Partington
Apr 1, 1992·American Journal of Medical Genetics·A M Lachiewicz
Jan 1, 1991·Annals of Neurology·A L ReissR N Bryan
Feb 1, 1991·American Journal of Medical Genetics·A CronisterR J Hagerman
Nov 1, 1990·Journal of the American Academy of Child and Adolescent Psychiatry·A L Reiss, L Freund
Oct 6, 1989·JAMA : the Journal of the American Medical Association·M J Berridge
Sep 1, 1989·Journal of Autism and Developmental Disorders·A Le CouteurJ McLennan
May 1, 1988·American Journal of Medical Genetics·R J HagermanM D Wittenberger
Jan 1, 1986·American Journal of Medical Genetics·W T BrownE Ritvo
Jan 1, 1986·American Journal of Medical Genetics·R J HagermanM Braden
Mar 1, 1980·Journal of Autism and Developmental Disorders·E SchoplerK Daly
Sep 1, 1982·Journal of Autism and Developmental Disorders·W T BrownJ French
Jul 15, 1994·American Journal of Medical Genetics·M T AbramsM B Denckla
Jul 15, 1994·American Journal of Medical Genetics·D Z LoeschJ Mulley
Jul 15, 1994·American Journal of Medical Genetics·C E SchwartzR E Stevenson
Nov 1, 1994·Journal of the American Academy of Child and Adolescent Psychiatry·S A MerensteinR J Hagerman
Mar 1, 1994·Journal of Medical Genetics·G Gillessen-Kaesbach, B Horsthemke
Apr 1, 1994·Clinical Genetics·C Schrander-StumpelJ P Fryns
Nov 1, 1993·Human Genetics·S Y LiY C Wang
Jan 28, 1993·Nature·M J Berridge
Sep 1, 1993·Journal of Medical Genetics·B B de VriesM F Niermeijer
Dec 18, 1995·American Journal of Medical Genetics·M B SchapiroA Kumar
Aug 9, 1996·American Journal of Medical Genetics·W E SobeskyR J Hagerman
May 13, 1997·Proceedings of the National Academy of Sciences of the United States of America·I J WeilerW T Greenough
Nov 11, 1998·Journal of Developmental and Behavioral Pediatrics : JDBP·A E ChudleyB N Chodirker
Nov 14, 1998·Journal of Autism and Developmental Disorders·C Gillberg
Feb 5, 1999·Journal of Autism and Developmental Disorders·D B BaileyL Mayhew
Jul 28, 1999·Clinical Genetics·F TassoneA K Taylor
Jan 13, 2000·American Journal of Human Genetics·F TassoneP J Hagerman
Mar 11, 2000·Journal of Intellectual Disability Research : JIDR·M Sabaratnam
Apr 5, 2000·American Journal of Medical Genetics·F TassoneP J Hagerman
May 20, 2000·Journal of Autism and Developmental Disorders·D B BaileyM Skinner
Aug 22, 2000·Prenatal Diagnosis·R PessoG Barkai
Sep 28, 2000·Cerebral Cortex·S A IrwinW T Greenough
Mar 15, 2001·American Journal of Mental Retardation : AJMR·D B BaileyA K Taylor
Apr 12, 2001·American Journal of Medical Genetics·C Stoll
Apr 28, 2001·Neuropsychology·L BennettoR J Hagerman
Jul 14, 2001·American Journal of Medical Genetics·F TassoneP J Hagerman
Jul 14, 2001·Journal of Autism and Developmental Disorders·D B BaileyG Mesibov

❮ Previous
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Citations

Jul 2, 2011·Journal of Autism and Developmental Disorders·Jane E RobertsJohn Colombo
Sep 19, 2012·Current Psychiatry Reports·Sharon Smile, Evdokia Anagnostou
Jun 3, 2009·Behavioral Neuroscience·Michael J Tobia, Diana S Woodruff-Pak
Dec 17, 2009·Behavioral Neuroscience·Michael R HunsakerRobert F Berman
Apr 10, 2008·European Journal of Human Genetics : EJHG·Kathryn B GarberStephen T Warren
Jan 14, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Karen E WeckUNKNOWN CAP/ACMG Biochemical and Molecular Genetics Resource Committee
Apr 16, 2010·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Mauro MaccarroneDiego Centonze
Sep 1, 2009·Journal of Speech, Language, and Hearing Research : JSLHR·David J ZajacGary E Martin
May 9, 2012·Journal of Speech, Language, and Hearing Research : JSLHR·Audra M SterlingSteven F Warren
Oct 3, 2008·Proceedings of the National Academy of Sciences of the United States of America·Lujian LiaoJohn R Yates
Aug 18, 2010·Proceedings of the National Academy of Sciences of the United States of America·Der-I KaoWilliam T Greenough
Oct 13, 2011·Genetic Testing and Molecular Biomarkers·Tri Indah WinarniFlora Tassone
Dec 30, 2011·Stem Cells and Development·Valentina T StefanovaChristoph Hansis
Oct 12, 2010·Human Molecular Genetics·Christopher L CunninghamStephen C Noctor
Sep 16, 2009·Nucleic Acids Research·Anna L LudwigPaul J Hagerman
Mar 14, 2007·Journal of Developmental and Behavioral Pediatrics : JDBP·Sufen ChiuRandi Hagerman
Apr 17, 2007·Journal of Developmental and Behavioral Pediatrics : JDBP·Stephen T NowickiRandi J Hagerman
Nov 4, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Howard P LevyDiane C Seibert
Mar 20, 2010·Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology·Anthony T YachnisKenneth M Heilman
Aug 21, 2009·Epilepsy Currents·Paul J Hagerman, Carl E Stafstrom
Apr 17, 2008·Journal of Medical Genetics·Paul J Hagerman
Sep 7, 2011·Developmental Neuroscience·Jose Luis Olmos-Serrano, Joshua G Corbin
Aug 7, 2010·American Journal on Intellectual and Developmental Disabilities·Agustini UtariDanh V Nguyen
Jan 2, 2009·Pediatrics·Randi J HagermanMichael Tranfaglia
Sep 4, 2009·Personalized Medicine·Zoran BrkanacBryan H King
May 9, 2009·The Journal of Clinical Psychiatry·James A BourgeoisRandi J Hagerman
Feb 8, 2013·Biomarkers in Medicine·Stamatina Iliodromiti, Scott M Nelson
Jul 16, 2013·Psychopharmacology·Marija M Petrinovic, Basil Künnecke
Nov 1, 2006·Proceedings of the National Academy of Sciences of the United States of America·Matthew W State
Oct 2, 2009·American Journal on Intellectual and Developmental Disabilities·Rebecca KronkRobert Noll
Mar 8, 2013·American Journal on Intellectual and Developmental Disabilities·Abigail L Hogan-BrownDeborah J Mueffelmann
Sep 8, 2010·The Journal of Clinical Psychiatry·James A BourgeoisRandi J Hagerman
Oct 21, 2015·Journal of Autism and Developmental Disorders·Jenny FairthorneHelen Leonard
Jan 1, 2016·Experimental Eye Research·E M Guimarães-SouzaK C Calaza
Aug 27, 2015·Proceedings of the National Academy of Sciences of the United States of America·Bin TangLujian Liao
Oct 10, 2015·Journal of Intellectual Disability Research : JIDR·A OakesL Abbeduto
Aug 23, 2011·Pediatric Clinics of North America·Matthew S Siegel, Wendy E Smith
Sep 25, 2010·Trends in Molecular Medicine·Josien LevengaRob Willemsen
May 19, 2010·Child and Adolescent Psychiatric Clinics of North America·Matthew S Siegel, Wendy E Smith
Dec 9, 2009·Advances in Pediatrics·Weerasak ChonchaiyaRandi J Hagerman
Jan 14, 2009·Biochemical and Biophysical Research Communications·Aiying ZhangAbdeslem El Idrissi
Nov 22, 2007·Biological Psychiatry·Diego CentonzeClaudia Bagni

❮ Previous
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