Disease Progression Markers in Huntington Disease

In patients with premanifest HD, certain clinical and imaging findings indicated increased risk for progression.

Interest in identifying clinical and biological markers in neurodegenerative diseases has intensified. In this multinational, prospective, observational study, the investigators boldly attempted to define some of these markers in Huntington disease (HD). They recruited patients with the HD gene mutation (multiple CAG repeats in the huntingtin gene) and divided them into HD nonmanifestors (pre-HD) and manifestors (those diagnosed with HD). At 12, 24, and 36 months, participants underwent 3-Telsa magnetic resonance imaging (MRI) and assessments of clinical, cognitive, quantitative motor, and neuropsychiatric signs. The investigators also examined disease progression and the effects of CAG repeat length and age.

Of 366 participants, 298 complet…

Reviewing Author

Michael S. Okun, MD

Disclosures

Consultant/Advisory BoardParkinson’s Foundation; Tourette Association of America

Speaker’s BureauMedscape/WebMD CME, Movement Disorders Society CME, American Academy of Neurology CME

RoyaltiesBooks4Patients; Demos; Cambridge; Taylor and Francis; Robert Rose; Public Affairs

Grant/Research SupportNational Institutes of Health; Parkinson’s Foundation; Tourette Association of America; University of Florida Foundation

Editorial BoardsTremor and Other Hyperkinetic Movements; JAMA Neurology

Leadership Positions in Professional SocietiesParkinson’s Foundation (Medical Advisor)