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At least 109 records · Page 6Linked to original sources
PubMed2001

Brain studies of mouse models for neurogenetic disorders using in vivo magnetic resonance imaging (MRI).

Magnetic resonance imaging (MRI) is a technique commonly used to detect neural abnormalities in routine clinical practice. It is perhaps less well known that the technique can be adapted to measure various anatomical and physiological features of small laboratory rodents. This review focuses on the potential of the MRI technique to image the brain of (transgenic) mouse models for neurological diseases, and aims to introduce these exciting new technological developments to the non-specialist reader.

Animals↗
PubMed2000

Neurogenetics of vesicular transporters in C. elegans.

The nematode Caenorhabditis elegans has a number of advantages for the analysis of synaptic molecules. These include a simple nervous system in which all cells are identified and synaptic connectivity is known and reproducible, a large collection of mutants and powerful methods of genetic analysis, simple methods for the generation and analysis of transgenic animals, and a number of relatively simple quantifiable behaviors. Studies in C. elegans have made major contributions to our understanding of vesicular transmitter transporters. Two of the four classes of vesicular transporters so far identified (VAChT and VGAT) were first described and cloned in C. elegans; in both cases, the genes were first identified and cloned by means of mutations causing a suggestive phenotype (1, 2). The phenotypes of eat-4 mutants and the cell biology of the EAT-4 protein were critical in the identification of this protein as the vesicular glutamate transporter (3, 4). In addition, the unusual gene structure associated with the cholinergic locus was first described in C. elegans (5). The biochemical properties of the nematode transporters are surprisingly similar to their vertebrate counterparts, and they can be assayed under similar conditions using the same types of mammalian cells (6, 7). In addition, mild and severe mutants (including knockouts) are available for each of the four C. elegans vesicular transporters, which has permitted a careful evaluation of the role(s) of vesicular transport in transmitter-specific behaviors. Accordingly, it seems appropriate at this time to present the current status of the field. In this review, we will first discuss the properties of C. elegans vesicular transporters and transporter mutants, and then explore some of the lessons and insights C. elegans research has provided to the field of vesicular transport.

Animals↗
PubMed1998

Neurogenetics in developmental and behavioral pediatrics: advances in molecular diagnosis.

The discovery and characterization of thousands of genes involved in human disorders has the potential for great benefit in patient diagnosis and treatment. A combined approach using molecular genetic testing for some disorders as an adjunct to the clinical evaluation of children with developmental or behavioral features is rapidly occupying a more prominent role in the diagnostic evaluation. In some instances, molecular testing might confirm a genetic etiology in a child initially referred with a DSM-IV diagnosis, but molecular testing might be of limited use in other instances. This review presents advances in the diagnosis of inherited disorders affecting the pediatric population, with an emphasis on those with a developmental/behavioral component. We examine several relatively common disorders in detail (and less common disorders in a more cursory fashion) to elucidate the strengths and weaknesses of molecular diagnosis in clinical practice.

Child↗
PubMed1997

Rise of neurogenetic determinism.

A critical review of the assumptions underlying the gene/environment dichotomy in explaining the origins of human behaviour, together with their biological and social consequences.

Behavior↗
PubMed2005

Neurogenetics II: complex disorders.

The genetic analysis of common neurological disorders will be a difficult and protracted endeavour. Genetics is only one of many disciplines that will be required but it has already thrown considerable light on the aetiology of several major neurological disorders through the analysis of rare inherited subgroups. The identification of individual susceptibility genes with variants of smaller effect will be more difficult but there is no sharp demarcation between large and small genetic effects, so that many new and important insights will emerge using existing and new technologies. The availability of improved neuroimaging, better animal models of disease and new genetic tools, such as high-throughput gene chips, expression microarrays and proteomics, are extending the range of traditional genetic mapping tools. Finally, an understanding of the genetic and epigenetic mechanisms that restrain the differentiation and integration of human neural stem cells into mature neuronal networks could have a major impact on clinical practice. These approaches will be illustrated in the context of Alzheimer disease, Parkinson disease and synucleinopathies, tauopathies, amyotrophic lateral sclerosis and stroke.

Alleles↗