Genetics of Huntington Disease

S Mahalingam,L M Levy

doi:10.3174/ajnr.a3772

Abstract

HD : Huntington disease CAG : cytosine-adenine-guanine Huntington disease (HD) is an autosomal dominant genetic condition that can affect movement and cognition and is progressive and fatal. It results from genetic mutations involving trinucleotide repeats of the huntingtin gene, which encodes

Highlights

Huntington disease (HD) is an autosomal dominant genetic condition that can affect movement and cognition and is progressive and fatal
HISTORY OF HUNTINGTON DISEASE Huntington disease is a neurodegenerative genetic condition that can affect movement and cognition and is progressive and fatal. While it has been known by various names previously, it obtained its eponym after George Huntington presented an exhaustive description of the clinical manifestation of the disease in 1872.1 it was called Huntington’s chorea for nearly a century, it is more accurately referred to as Huntington disease, because chorea is neither a constant nor a dominant feature of the disease
Valuable insights provided by genetic research in HD have strengthened the understanding of other neurodegenerative disorders such as Alzheimer disease, with increased hope for more definitive therapeutic strategies

Summary

Introduction

Huntington disease (HD) is an autosomal dominant genetic condition that can affect movement and cognition and is progressive and fatal. HD is presently the most widely studied genetic neurodegenerative disease that has diagnostic and predictive genetic testing, with the possibility of gene-targeted therapy in the near future.

Results

Conclusion