A Phase 2 Randomized Trial of Asleep versus Awake Subthalamic Nucleus Deep Brain Stimulation for Parkinson's Disease.

OBJECTIVE: Asleep deep brain stimulation (DBS) for Parkinson's disease (PD) is being performed more frequently; however, motor outcomes and safety of asleep DBS have never been assessed in a prospective randomized trial. METHODS: We conducted a prospective, randomized, noncomparative trial to assess the motor outcomes of asleep DBS. Leads were implanted in the subthalamic nucleus (STN) according to probabilistic stereotactic coordinates with a surgical robot under O-arm© imaging guidance under either general anesthesia without microelectrode recordings (MER) (20 patients, asleep group) or local anesthesia with MER and clinical testing (9 patients, awake group). RESULTS: The mean motor improvement rates on the Unified Parkinson's Disease Rating Scale Part III (UPDRS-3) between OFF and ON stimulation without medication were 52.3% (95% CI: 45.4-59.2%) in the asleep group and 47.0% (95% CI: 23.8-70.2%) in the awake group, 6 months after surgery. Except for a subcutaneous hematoma, we did not observe any complications related to the surgery. Three patients (33%) in the awake group and 8 in the asleep group (40%) had at least one side effect potentially linked with neurostimulation. CONCLUSIONS: Owing to its randomized design, our study supports the hypothesis that motor outcomes after asleep STN-DBS in PD may be noninferior to the standard awake procedure.

Prevalence and phenomenology of olfactory hallucinations in Parkinson's disease.

BACKGROUND: Although visual hallucinations in Parkinson's disease (PD) have been described in several major studies, little is known about olfactory hallucinations (OHs). METHODS: The authors performed a detailed analysis of OHs in a cohort of 87 Parkinsonian patients to estimate the prevalence of OHs and describe their phenomenology. They also evaluated smelling abilities in terms of detection and identification. Assessment of both, OHs and olfactory function, was also performed using a control group of 40 normal subjects. RESULTS: Nine patients exhibited OHs compared with none of the controls, giving a prevalence of 10% for OHs in patients. OHs were described as rare, short-lasting, unpleasant odours which are not frightening since clearly identified by the patient as hallucinations. Parkinsonian patients with OHs exhibited olfactory impairment of detection and identification compared with controls, but there was no difference in their olfactory abilities from Parkinsonian patients without OHs. CONCLUSIONS: In conclusion, OHs should be added to the list of non-motor PD symptoms that can occur early or late in the course of PD. The authors' study did not reveal any significant difference in terms of olfactory abilities between patients with or without OHs. However, olfactory impairment is well documented in Parkinsonian patients and cannot be totally ruled out as a risk factor for OHs. The authors recognise that complex mechanisms are probably involved in this phenomenon.

Increased diagnostic yield in complex dystonia through exome sequencing.

INTRODUCTION: A strategy based on targeted gene panel sequencing identifies possibly pathogenic variants in fewer than 20% of cases in early-onset and familial form of dystonia. By using Whole Exome Sequencing (WES), we aimed to identify the missing genetic causes in dystonic patients without diagnosis despite gene panel sequencing. MATERIAL AND METHODS: WES was applied to DNA samples from 32 patients with early-onset or familial dystonia investigated by sequencing of a 127 movement disorders-associated gene panel. Dystonia was described according to the familial history, body distribution, evolution pattern, age of onset, associated symptoms and associated movement disorders. Rate of diagnoses was evaluated for each clinical feature. RESULTS: We identified causative variants for 11 patients from 9 families in CTNNB1, SUCLG1, NUS1, CNTNAP1, KCNB1, RELN, GNAO1, HIBCH, ADCK3 genes, yielding an overall diagnostic rate of 34.4%. Diagnostic yield was higher in complex dystonia compared to non-complex dystonia (66.7%-5.9%; p < 0.002), especially in patients showing intellectual disability compared to the patients without intellectual disability (87.5%-16.7%; p < 0.002). CONCLUSION: Our approach suggests WES as an efficient tool to improve the diagnostic yield after gene panel sequencing in dystonia. Larger study are warranted to confirm a potential genetic overlap between neurodevelopmental diseases and dystonia.