Huntington disease: pathogenesis and treatment

Praveen Dayalu; Roger L Albin

doi:10.1016/j.ncl.2014.09.003

Huntington disease: pathogenesis and treatment

Neurol Clin. 2015 Feb;33(1):101-14. doi: 10.1016/j.ncl.2014.09.003.

Authors

Praveen Dayalu¹, Roger L Albin²

Affiliations

¹ Department of Neurology, University of Michigan, 1500 East Medical Center Drive, Ann Arbor, MI 48109, USA. Electronic address: pravd@med.umich.edu.
² Department of Neurology, University of Michigan, 1500 East Medical Center Drive, Ann Arbor, MI 48109, USA; Neuroscience Research, Veterans Affairs Medical Center, 2215 Fuller Road, Ann Arbor, MI 48105, USA.

PMID: 25432725
DOI: 10.1016/j.ncl.2014.09.003

Abstract

Huntington disease (HD) is an autosomal dominant inherited neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline, culminating in death. It is caused by an expanded CAG repeat in the huntingtin gene. Even years before symptoms become overt, mutation carriers show subtle but progressive striatal and cerebral white matter atrophy by volumetric MRI. Although there is currently no direct treatment of HD, management options are available for several symptoms. A better understanding of HD pathogenesis, and more sophisticated clinical trials using newer biomarkers, may lead to meaningful treatments. This article reviews the current knowledge of HD pathogenesis and treatment.

Keywords: Chorea; Huntingtin; Huntington; Neurodegeneration; Pathogenesis; Polyglutamine; Striatum; Treatment.

Publication types

Review

MeSH terms

Humans
Huntingtin Protein
Huntington Disease* / genetics
Huntington Disease* / pathology
Huntington Disease* / therapy
Magnetic Resonance Imaging
Nerve Tissue Proteins / genetics
Trinucleotide Repeats / genetics

Substances

HTT protein, human
Huntingtin Protein
Nerve Tissue Proteins