Standards and Recommendations for Molecular Diagnostic Testing for Huntington Disease, the Autosomal Dominant Spinocerebellar Ataxias, and Friedreich Ataxia

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Inherited in an autosomal dominant manner, the manifestation of the characteristic clinical features of Huntington disease (HD) are invariably associated with the expansion of a reiterated trinucleotide cytosine-adenine-guanine (CAG) repeat in exon 1of the HDgene localized to the short arm of chromosome. Genetic testing for HD continues to serve as the model for the development of analytical testing guidelines and standards for disorders of this type and for the development of rigorous yet compassionate pre- and post-analytical algorithms that result in a true multidisciplinary approach for the evaluation of these patients. The introduction of a classification system for the olivopontocerebellar atrophies (OPCAs), later refined by Harding (1982) for the autosomal dominant spinocerebellar ataxias (ADCAs), showed that some level of consistency and balance was achieved through the evaluation of the clinical, pathological, and genetic basis of disease. In many clinical situations, the nosologic classification of the ADCAs by molecular genetic criteria has provided a level of diagnostic acumen that has greatly simplified the overall management of these patients and has clarified outcomes for other at-risk family members. Concurrently, our understanding of the pathophysiologic mechanisms of neuro-degeneration has also been enhanced by these molecular genetic advancements. Collectively, it is hoped that this convergence will result in better understanding of genotype-phenotype correlations, ultimately leading to the development of effective treatments for these patients. © 2010

Original languageEnglish (US)
Title of host publicationMolecular Diagnostics
PublisherElsevier Inc.
Pages191-202
Number of pages12
ISBN (Print)9780123694287
DOIs
StatePublished - Dec 1 2010

Fingerprint

Molecular Diagnostic Techniques
Friedreich Ataxia
Spinocerebellar Ataxias
Huntington Disease
Molecular Biology
Testing
Olivopontocerebellar Atrophies
Inborn Genetic Diseases
Cytosine
Guanine
Genetic Testing
Genetic Association Studies
Adenine
Chromosomes
Exons
Guidelines
Therapeutics

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Standards and Recommendations for Molecular Diagnostic Testing for Huntington Disease, the Autosomal Dominant Spinocerebellar Ataxias, and Friedreich Ataxia. / Potter, Nicholas.

Molecular Diagnostics. Elsevier Inc., 2010. p. 191-202.

Research output: Chapter in Book/Report/Conference proceedingChapter

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