Test-retest reliability of saccadic measures in subjects at risk for Huntington disease.

PURPOSE: Abnormalities in saccades appear to be sensitive and specific biomarkers in the prediagnostic stages of Huntington disease (HD). The goal of this study was to evaluate test-retest reliability of saccadic measures in prediagnostic carriers of the HD gene expansion (PDHD) and normal controls (NC). METHODS: The study sample included 9 PDHD and 12 NC who completed two study visits within an approximate 1-month interval. At the first visit, all participants completed a uniform clinical evaluation. A high-resolution, video-based system was used to record eye movements during completion of a battery of visually guided, antisaccade, and memory-guided tasks. Latency, velocity, gain, and percentage of errors were quantified. Test-retest reliability was estimated by calculating the intraclass correlation (ICC) of the saccade measures collected at the first and second visits. In addition, an equality test based on Fisher's z-transformation was used to evaluate the effects of group (PDHD and NC) and the subject's sex on ICC. RESULTS: The percentage of errors showed moderate to high reliability in the antisaccade and memory-guided tasks (ICC = 0.64-0.93). The latency of the saccades also demonstrated moderate to high reliability (ICC = 0.55-0.87) across all tasks. The velocity and gain of the saccades showed moderate reliability. The ICC was similar in the PDHD and NC groups. There was no significant effect of sex on the ICC. CONCLUSIONS: Good reliability of saccadic latency and percentage of errors in both antisaccade and memory-guided tasks suggests that these measures could serve as biomarkers to evaluate progression in HD.

Visual scanning and cognitive performance in prediagnostic and early-stage Huntington's disease.

The objective of this study was to evaluate visual scanning strategies in carriers of the Huntington disease (HD) gene expansion and to test whether there is an association between measures of visual scanning and cognitive performance. The study sample included control (NC, n = 23), prediagnostic (PDHD, n = 21), and subjects recently diagnosed with HD (HD, n = 19). All participants completed a uniform clinical evaluation that included examination by neurologist and molecular testing. Eye movements were recorded during completion of the Digit Symbol Subscale (DS) test. Quantitative measures of the subject's visual scanning were evaluated using joint analysis of eye movements and performance on the DS test. All participants employed a simple visual scanning strategy when completing the DS test. There was a significant group effect and a linear trend of decreasing frequency and regularity of visual scanning from NC to PDHD to HD. The performance of all groups improved slightly and in a parallel fashion across the duration of the DS test. There was a strong correlation between visual scanning measures and the DS cognitive scores. While all individuals employed a similar visual scanning strategy, the visual scanning measures grew progressively worse from NC to PDHD to HD. The deficits in visual scanning accounted, at least in part, for the decrease in the DS score.

Root resorption associated with orthodontic force in inbred mice: genetic contributions.

Root resorption (RR) is an unwanted sequela of orthodontic treatment. Despite rigorous investigation, no single factor or group of factors that directly causes RR has been identified. The purpose of this study was to examine the effect of the genotype on susceptibility or resistance to develop RR secondary to orthodontic force. Nine-week-old male mice from eight inbred strains were used and randomly distributed into control (C) or treatment (T) groups as follows: A/J (C = 9,T = 9), C57BL/6J (C = 7,T = 8), C3H/HeJ (C = 8,T = 6), BALB/cJ (C = 8,T = 6), 129P3/J (C = 6,T = 8), DBA/2J (C = 8,T = 9), SJL/J (C = 8,T = 10), and AKR/J (C = 9,T = 8). Each of the treated mice received an orthodontic appliance to tip the maxillary left first molar mesially for 9 days. Histological sections of the tooth were used to determine RR and tartrate resistant acid phosphatase (TRAP) activity. The Wilcoxon ranked-sum non-parametric test was used to evaluate differences between the groups. The results showed that the DBA/2J, BALB/cJ, and 129P3/J inbred mouse strains are highly susceptible to RR, whereas A/J, C57BL/6J and SJL/J mice are much more resistant. The variation in the severity of RR associated with orthodontic force among different inbred strains of mice when age, gender, food, housing, and orthodontic force magnitude/duration are controlled support the hypothesis that susceptibility or resistance to RR associated with orthodontic force is a genetically influenced trait.