Neurocognitive signs in prodromal Huntington disease

Neuropsychology. 2011 Jan;25(1):1-14. doi: 10.1037/a0020937.

Abstract

Objective: PREDICT-HD is a large-scale international study of people with the Huntington disease (HD) CAG-repeat expansion who are not yet diagnosed with HD. The objective of this study was to determine the stage in the HD prodrome at which cognitive differences from CAG-normal controls can be reliably detected.

Method: For each of 738 HD CAG-expanded participants, we computed estimated years to clinical diagnosis and probability of diagnosis in 5 years based on age and CAG-repeat expansion number (Langbehn, Brinkman, Falush, Paulsen, & Hayden, 2004). We then stratified the sample into groups: NEAR, estimated to be ≤9 years; MID, between 9 and 15 years; and FAR, ≥15 years. The control sample included 168 CAG-normal participants. Nineteen cognitive tasks were used to assess attention, working memory, psychomotor functions, episodic memory, language, recognition of facial emotion, sensory-perceptual functions, and executive functions.

Results: Compared with the controls, the NEAR group showed significantly poorer performance on nearly all of the cognitive tests and the MID group on about half of the cognitive tests (p = .05, Cohen's d NEAR as large as -1.17, MID as large as -0.61). One test even revealed significantly poorer performance in the FAR group (Cohen's d = -0.26). Individual tasks accounted for 0.2% to 9.7% of the variance in estimated proximity to diagnosis. Overall, the cognitive battery accounted for 34% of the variance; in comparison, the Unified Huntington's Disease Rating Scale motor score accounted for 11.7%.

Conclusions: Neurocognitive tests are robust clinical indicators of the disease process prior to reaching criteria for motor diagnosis of HD.

Publication types

  • Multicenter Study

MeSH terms

  • Adult
  • Attention
  • Cognition Disorders / diagnosis*
  • Cognition Disorders / etiology*
  • Cognition Disorders / genetics
  • Emotions
  • Female
  • Humans
  • Huntingtin Protein
  • Huntington Disease / complications*
  • Huntington Disease / diagnosis*
  • Huntington Disease / genetics
  • International Cooperation
  • Language
  • Male
  • Mental Recall
  • Middle Aged
  • Nerve Tissue Proteins / genetics
  • Neuropsychological Tests*
  • Nuclear Proteins / genetics
  • Predictive Value of Tests
  • Psychomotor Performance
  • Retrospective Studies
  • Sample Size
  • Sensitivity and Specificity
  • Severity of Illness Index
  • Time Factors
  • Trinucleotide Repeats / genetics

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins