Fragile X syndrome and associated disorders in adulthood

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Although fragile X syndrome is typically considered a pediatric developmental disorder, many manifestations persist or develop in adulthood. Manifestations depend on the length of the CGG repeat at the front end of the FMR1 gene. Patients with the premutation (55 to 200 repeats) have typically normal cognitive abilities. With increasing age, however, consequences of RNA toxicity, including primary ovarian insufficiency, the fragile X-associated tremor ataxia syndrome, fibromyalgia, hypothyroidism, neuropathy, and psychiatric problems including anxiety and depression, may develop. Patients with the full mutation (greater than 200 CGG repeats) have significant cognitive impairment ranging from learning disabilities, particularly in girls, to severe intellectual disability and autism in males. Medical problems are usually related to connective-tissue abnormalities, seizures, or psychiatric problems, including mood instability, anxiety, and/or aggression.

Original languageEnglish (US)
Pages (from-to)32-49
Number of pages18
JournalCONTINUUM Lifelong Learning in Neurology
Volume15
Issue number6
DOIs
StatePublished - Dec 2009

Fingerprint

Fragile X Syndrome
Psychiatry
Anxiety
Primary Ovarian Insufficiency
Aptitude
Fibromyalgia
Learning Disorders
Autistic Disorder
Hypothyroidism
Aggression
Intellectual Disability
Connective Tissue
Seizures
RNA
Depression
Pediatrics
Mutation
Genes
Fragile X Tremor Ataxia Syndrome
Cognitive Dysfunction

Keywords

  • The premutation produces excess mRNA leading to an RNA toxicity causing fragile X-associated tremor ataxia syndrome (FXTAS) and primary ovarian insufficiency
  • Whereas the full mutation produces little or no mRNA and a lack of FMRP
  • Which leads to fragile X syndrome (FXS). The molecular mechanisms of involvement are therefore different between the premutation and the full mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

Cite this

Fragile X syndrome and associated disorders in adulthood. / Hagerman, Randi J.

In: CONTINUUM Lifelong Learning in Neurology, Vol. 15, No. 6, 12.2009, p. 32-49.

Research output: Contribution to journalArticle

@article{34f5cb4116dc4c2a99cfe5ed0a3825f4,
title = "Fragile X syndrome and associated disorders in adulthood",
abstract = "Although fragile X syndrome is typically considered a pediatric developmental disorder, many manifestations persist or develop in adulthood. Manifestations depend on the length of the CGG repeat at the front end of the FMR1 gene. Patients with the premutation (55 to 200 repeats) have typically normal cognitive abilities. With increasing age, however, consequences of RNA toxicity, including primary ovarian insufficiency, the fragile X-associated tremor ataxia syndrome, fibromyalgia, hypothyroidism, neuropathy, and psychiatric problems including anxiety and depression, may develop. Patients with the full mutation (greater than 200 CGG repeats) have significant cognitive impairment ranging from learning disabilities, particularly in girls, to severe intellectual disability and autism in males. Medical problems are usually related to connective-tissue abnormalities, seizures, or psychiatric problems, including mood instability, anxiety, and/or aggression.",
keywords = "The premutation produces excess mRNA leading to an RNA toxicity causing fragile X-associated tremor ataxia syndrome (FXTAS) and primary ovarian insufficiency, Whereas the full mutation produces little or no mRNA and a lack of FMRP, Which leads to fragile X syndrome (FXS). The molecular mechanisms of involvement are therefore different between the premutation and the full mutation",
author = "Hagerman, {Randi J}",
year = "2009",
month = "12",
doi = "10.1212/01.CON.0000348876.24317.0e",
language = "English (US)",
volume = "15",
pages = "32--49",
journal = "CONTINUUM Lifelong Learning in Neurology",
issn = "1080-2371",
publisher = "Lippincott Williams and Wilkins",
number = "6",

}

TY - JOUR

T1 - Fragile X syndrome and associated disorders in adulthood

AU - Hagerman, Randi J

PY - 2009/12

Y1 - 2009/12

N2 - Although fragile X syndrome is typically considered a pediatric developmental disorder, many manifestations persist or develop in adulthood. Manifestations depend on the length of the CGG repeat at the front end of the FMR1 gene. Patients with the premutation (55 to 200 repeats) have typically normal cognitive abilities. With increasing age, however, consequences of RNA toxicity, including primary ovarian insufficiency, the fragile X-associated tremor ataxia syndrome, fibromyalgia, hypothyroidism, neuropathy, and psychiatric problems including anxiety and depression, may develop. Patients with the full mutation (greater than 200 CGG repeats) have significant cognitive impairment ranging from learning disabilities, particularly in girls, to severe intellectual disability and autism in males. Medical problems are usually related to connective-tissue abnormalities, seizures, or psychiatric problems, including mood instability, anxiety, and/or aggression.

AB - Although fragile X syndrome is typically considered a pediatric developmental disorder, many manifestations persist or develop in adulthood. Manifestations depend on the length of the CGG repeat at the front end of the FMR1 gene. Patients with the premutation (55 to 200 repeats) have typically normal cognitive abilities. With increasing age, however, consequences of RNA toxicity, including primary ovarian insufficiency, the fragile X-associated tremor ataxia syndrome, fibromyalgia, hypothyroidism, neuropathy, and psychiatric problems including anxiety and depression, may develop. Patients with the full mutation (greater than 200 CGG repeats) have significant cognitive impairment ranging from learning disabilities, particularly in girls, to severe intellectual disability and autism in males. Medical problems are usually related to connective-tissue abnormalities, seizures, or psychiatric problems, including mood instability, anxiety, and/or aggression.

KW - The premutation produces excess mRNA leading to an RNA toxicity causing fragile X-associated tremor ataxia syndrome (FXTAS) and primary ovarian insufficiency

KW - Whereas the full mutation produces little or no mRNA and a lack of FMRP

KW - Which leads to fragile X syndrome (FXS). The molecular mechanisms of involvement are therefore different between the premutation and the full mutation

UR - http://www.scopus.com/inward/record.url?scp=78650748395&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=78650748395&partnerID=8YFLogxK

U2 - 10.1212/01.CON.0000348876.24317.0e

DO - 10.1212/01.CON.0000348876.24317.0e

M3 - Article

AN - SCOPUS:78650748395

VL - 15

SP - 32

EP - 49

JO - CONTINUUM Lifelong Learning in Neurology

JF - CONTINUUM Lifelong Learning in Neurology

SN - 1080-2371

IS - 6

ER -