Lessons from fragile X regarding neurobiology, autism, and neurodegeneration

Research output: Contribution to journalArticle

147 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)63-74
Number of pages12
JournalJournal of Developmental and Behavioral Pediatrics
Volume27
Issue number1
DOIs
StatePublished - Feb 2006

Fingerprint

Fragile X Syndrome
Neurobiology
Autistic Disorder
Intellectual Disability
Fragile X Mental Retardation Protein
Genes
Leukoencephalopathies
Mutation
Peripheral Nervous System Diseases
Tremor
Ataxia
Atrophy
Anxiety
RNA
Phenotype
Messenger RNA
Brain
Fragile X Tremor Ataxia Syndrome
Proteins

Keywords

  • Autism
  • Fragile X
  • Neurobiology
  • Neurodegeneration

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Behavioral Neuroscience
  • Psychology(all)
  • Developmental and Educational Psychology

Cite this

Lessons from fragile X regarding neurobiology, autism, and neurodegeneration. / Hagerman, Randi J.

In: Journal of Developmental and Behavioral Pediatrics, Vol. 27, No. 1, 02.2006, p. 63-74.

Research output: Contribution to journalArticle

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