✦ LIBER ✦

A converging-methods approach to fragile X syndrome

✍ Scribed by James D. Churchill; Aaron W. Grossman; Scott A. Irwin; Roberto Galvez; Anna Y. Klintsova; Ivan Jeanne Weiler; William T. Greenough

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 211 KB
Volume: 40
Category: Article
ISSN: 0012-1630
DOI: 10.1002/dev.10036

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Converging approaches across domains of brain anatomy, cell biology, and behavior indicate that Fragile X syndrome, arising from impaired expression of a single gene and protein, appears to involve an aberration of normal developmental processes. Synapse overproduction and selective elimination, or pruning, characterize normal brain development. In autopsy tissue from Fragile X patients and in a knockout mouse model of the disease, synapse overproduction appears to occur unaccompanied by synapse pruning and maturation, leaving an excess of immature spine synapses in place. The absence of the Fragile X protein seems to impair the synthesis of important proteins at synapses. The developmental outcome in Fragile X is a nervous system that is relatively disorganized, resulting in disrupted perceptual, and cognitive social, behavior. © 2002 Wiley Periodicals, Inc. Dev Psychobiol 40: 323–338, 2002. DOI 10.1002/dev.10036

📜 SIMILAR VOLUMES

A developmental approach to understandin

A developmental approach to understanding Fragile X syndrome in females

✍ Cynthia S. Keysor; Michèle M.M. Mazzocco 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 78 KB

The psychological phenotype of females with fragile X syndrome (FraX) is discussed, focusing primarily on empirical findings over the past decade and on studies of probands with the full mutation (FM). A developmental approach is used to help characterize specific patterns of cognitive, neuropsychol

A methylation PCR approach for detection

A methylation PCR approach for detection of fragile X syndrome

✍ Ioannis Panagopoulos; Carin Lassen; Ulf Kristoffersson; Pierre Åman 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 353 KB 👁 2 views

Fragile X syndrome is associated with the expansion of the number of CGG trinucleotide tandem repeats at the 5¢ untranslated region of the FMR1 gene. The number of CGG trinucleotide repeats in normal individuals ranges between 5 and 50, in asymptomatic carrier individuals it ranges between 50 and 20

Fragile X syndrome—From genes to cogniti

Fragile X syndrome—From genes to cognition

✍ A. Schneider; R.J. Hagerman; D. Hessl 📂 Article 📅 2009 🏛 Wiley (John Wiley & Sons) 🌐 English ⚖ 287 KB

Fragile-X syndrome in east Finland: Mole

Fragile-X syndrome in east Finland: Molecular approach to genetic and prenatal diagnosis

✍ Ryynänen, Markku ;Pulkkinen, Leena ;Kirkinen, Pertti ;Saarikoski, Seppo 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 268 KB 👁 2 views

Developing a brain specialized for face

Developing a brain specialized for face perception: A converging methods approach

✍ Michelle de Haan; Kate Humphreys; Mark H. Johnson 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 133 KB

The fragile X syndrome: From molecular g

The fragile X syndrome: From molecular genetics to neurobiology

✍ Willemsen, Rob ;Oostra, Ben A. ;Bassell, Gary J. ;Dictenberg, Jason 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB

## Abstract Since the identification of the FMR1 gene basic research has been focused on the molecular characterization of the FMR1 gene product, the fragile X mental retardation protein (FMRP). Recent developments in fragile X research have provided new insights and knowledge about the physiologic