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Huntington’s disease (HD) is a progressive, fatal, neurodegenerative disorder caused by an abnormal expansion of a CAG repeat sequence in the gene encoding the protein huntingtin (HTT) on chromosome 4. Clinical features of HD include progressive motor dysfunction, cognitive decline, and psychiatric disturbance. Sleep disturbances are frequent in HD patients. However, sleep alterations as well as their association with other symptoms and signs of the disease have not been systematically studied in large groups of HD patients.The aim of the study was to objectively evaluate sleep features in a large, single-center, population of HD patients by means of nocturnal, laboratory based video-polysomnography (V-PSG), and to correlate PSG findings with clinical parameters;evaluate subjective sleep-related symptoms by subjective sleep evaluation and compare the results with those obtained with the gold standard diagnostic tool, namely V-PSG;finally, evaluate the EEG modifications in HD patients during the sleep-wake cycle, by means of the exact LOw REsolution Tomography (eLORETA) software.The results suggest that sleep is severely disrupted in HD patients.Taken together,our data may suggest that the caudate degenerative process observed in HD account for the increased arousability, increased motor activity during wake and sleep (originating periodic limb movements), reduction of REM sleep and, overall, a general sleep disruption.As concerns the subjective sleep evaluation, our data suggest, overall, that the subjective evaluation of sleep in HD patients shows a poor correlation with PSG results. Our EEG data suggest a defined pattern of motor cortex dysfunction during wake and sleep, which correlates with the clinical and polysomnographic evidence of increased motor activity during wake and NREM, and nearly absent motor abnormalities in REM. It could be hypothesized that EEG modifications reflect motor cortex impairment or, conversely, an effort to counterbalance abnormal motor output.

Either botulinum toxins (BoNTs) A and B have been used for improving drooling in different neurological conditions.Consecutive patients affected by Amyotrophic Lateral Sclerosis (ALS) or Parkinson's Disease (PD) accompanied by severe drooling were randomized to receive botulinum neurotoxin type A (BoNT-A) or B (BoNT-B) injections into the salivary glands. Following the first treatment, when sialorrhea returned to baseline (at least three months after the first injection), subjects were re-treated with the other serotype. Ultrasound-guided injections into parotid and submandibular glands were bilaterally performed: total doses were 250 U BoNT-A (Dysport) and 2500 U BoNT-B (Neurobloc). Objective (cotton roll weight) and subjective (ad hoc clinical scales) evaluations were performed at baseline, after 1 and 4 weeks, and every 4 weeks until drooling returned to baseline.Twenty-seven patients (15 ALS and 12 PD) were enrolled, fourteen completed the study. BoNT-A and BoNT-B treatments gave both subjective and objective improvements in all patients. The latency was significantly shorter after BoNT-B treatments (3.2 ± 3.7 days) compared to BoNT-A (6.6 ± 4.1 days; P = 0.002). The mean benefit duration was similar at 75 and 90 days for BoNT-A and BoNT-B, respectively (P = NS). The only toxin-related side effect was a change to saliva thickness.Either 250 U Dysport or 2500 U Neurobloc have similar effectiveness and safety in controlling sialorrhea. BoNT-B has a shorter latency and comparable duration. Cost analysis, considering the doses used in this study protocol favored BoNT-B treatment.

Introduction: The aim of the study was to evaluate the clinical reliability of subjective sleep evaluation, based on sleep and psychometric questionnaires, by comparing the results with those obtained with laboratory-based video-polysomnography (V-PSG). Patients and Methods: Thirty consecutive Huntington disease (HD) patients were enrolled. Subjective evaluation of sleep included the Pittsburgh Sleep Quality Index (PSQI), the sleep questionnaire for HD (HDQ), the Epworth Sleepiness Scale, the Bologna questionnaire for sleepiness (BQ), the Berlin questionnaire, and the RBD questionnaire; the International Restless Legs Syndrome Study Group scale was administered to patients with positive screening. The psychometric evaluation included the Zung Anxiety Scale, the short form of the Beck Depression Inventory, and the Maudsley Obsessive-Compulsive Inventory. All patients underwent V-PSG. Results: In sleepiness evaluation, the Epworth score was above the cutoff in 6 subjects, and the BQ detected a “high risk” of sleepiness in 7 cases. The results were concordant in 24 and discordant in 5 cases. In the evaluation of sleep quality, the PSQI score was above the cutoff in 18 subjects. According to the HDQ, 10 subjects were poor sleepers. The results were concordant with the PSQI in 20 subjects. Discussion: All comparisons between scale scores and PSG results showed poor or totally absent concordance between subjective and objective measures. Significance: The subjective evaluation of sleep in HD patients shows a poor correlation with PSG results.

The aim of the study was to evaluate the EEG modifications in patients with Huntington disease (HD) compared with controls, by means of the exact LOw REsolution Tomography (eLORETA) software. We evaluated EEG changes during wake, non–rapid eye movement (NREM) and rapid eye movement (REM) sleep. Moreover, we reviewed the literature concerning EEG modifications in HD. Twenty-three consecutive adult patients affected by HD were enrolled, 14 women and 9 men, mean age was 57.0 ± 12.4 years. Control subjects were healthy volunteers (mean age 58.2 ± 14.6 years). EEG and polygraphic recordings were performed during wake (before sleep) and during sleep. Sources of EEG activities were determined using the eLORETA software. In wake EEG, significant differences between patients and controls were detected in the delta frequency band (threshold T = ±4.606; P < .01) in the Brodmann areas (BAs) 3, 4, and 6 bilaterally. In NREM sleep, HD patients showed increased alpha power (T = ±4.516; P < .01) in BAs 4 and 6 bilaterally; decreased theta power (T = ±4.516; P < .01) in the BAs 23, 29, and 30; and decreased beta power (T = ±4.516; P < .01) in the left BA 30. During REM, HD patients presented decreased theta and alpha power (threshold T = ±4.640; P < .01) in the BAs 23, 29, 30, and 31 bilaterally. In conclusion, EEG data suggest a motor cortex dysfunction during wake and sleep in HD patients, which correlates with the clinical and polysomnographic evidence of increased motor activity during wake and NREM, and nearly absent motor abnormalities in REM.

STUDY OBJECTIVES To evaluate the sleep pattern and the motor activity during sleep in a cohort of patients affected by Huntington disease (HD). DESIGN Cross-sectional cohort study. SETTING Sleep laboratory. PATIENTS Thirty HD patients, 16 women and 14 men (mean age 57.3 ± 12.2 y); 30 matched healthy controls (mean age 56.5 ± 11.8 y). INTERVENTIONS Subjective sleep evaluation: Epworth Sleepiness Scale (ESS); Berlin's Questionnaire, interview for restless legs syndrome (RLS), questionnaire for REM sleep behavior disorder (RBD). Clinical evaluation: disease duration, clinical severity (unified Huntington disease motor rating scale [UHDMRS]), genetic tests. Laboratory-based full-night attended video-polysomnography (V-PSG). MEASUREMENTS AND RESULTS The duration of the disease was 9.4 ± 4.4 y, UHMDRS score was 55.5 ± 23.4, CAG repeats were 44.3 ± 4.1. Body mass index was 21.9 ± 4.0 kg/m(2). No patients or caregivers reported poor sleep quality. Two patients reported symptoms of RLS. Eight patients had an ESS score ≥ 9. Eight patients had high risk of obstructive sleep apnea. At the RBD questionnaire, two patients had a pathological score. HD patients, compared to controls, showed shorter sleep, reduced sleep efficiency index, and increased arousals and awakenings. Four patients presented with sleep disordered breathing (SDB). Periodic limb movements (PLMs) during wake and sleep were observed in all patients. No episode of RBD was observed in the V-PSG recordings, and no patients showed rapid eye movement (REM) sleep without atonia. The disease duration correlated with ESS score (P < 0.02). UHMDRS correlated positively with the ESS score (P < 0.005), and negatively with the percentage of REM sleep. CONCLUSIONS Patients with Huntington disease showed a severe sleep disruption and a high prevalence of periodic limb movements, but no evidence of sleep disordered breathing or REM sleep behavior disorder.

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