Neuroimaging Findings in a Patient with Anti-IgLON5 Disease: Cerebrospinal Fluid Dynamics Abnormalities.

Anti-IgLON5 disease is a recently described autoimmune neurodegenerative disorder characterized by insidious onset, slow progression and a variety of neurological features. Neuroimaging in most patients with anti-IgLON5 disease is normal or shows nonspecific findings. Here, we report a case of anti-IgLON5 disease presenting with parkinsonism, falls, sleep problems with severe nocturnal dyspnea attacks, dysphagia, and dysautonomia. Imaging findings were initially suggestive of progressive supranuclear palsy. An altered cerebrospinal fluid dynamic was found on an MRI as well as high-convexity hyperperfusion on a brain SPECT. Further case descriptions with neuroimaging are required to characterize cerebral and cerebrospinal fluid dynamics abnormalities in this rare condition.

Five-Year Experience with Fifth-to-Seventh Nerve Transfer for Smile.

BACKGROUND: Masseteric- or deep temporal-to-facial nerve transfer (five-to-seven nerve transfer) is increasingly used in facial reanimation; however, the indications and clinical variables affecting outcomes for five-to-seven nerve transfer have not been defined. The authors describe their early experience with five-to-seven nerve transfer, reporting function and patient-reported outcomes, to identify potential parameters that are predictive of outcome. METHODS: The authors conducted a retrospective chart review of all patients who underwent five-to-seven nerve transfer for smile reanimation from 2012 to 2017. Age, sex, cause of facial paralysis, onset and duration of paralysis, history of adjuvant chemotherapy and/or radiation therapy, donor nerve used, adjunctive procedures, and final excursion were recorded. Standard photographs and videos, and data regarding clinical facial nerve function and patient-reported quality of life, were obtained preoperatively and postoperatively. RESULTS: Sixty patients were identified. Forty-seven had flaccid facial paralysis and 13 had postparalysis facial palsy. Among flaccid facial paralysis patients, masseteric nerve transfer was successful in 30 patients (88 percent) and deep temporal nerve transfer was successful in three cases (60 percent). Among postparalysis facial palsy patients, five-to-seven nerve transfer was successful in two patients (20 percent). Average quality-of-life scores improved significantly from preoperatively (46) to postoperatively (59) among flaccid facial paralysis patients with successful five-to-seven nerve transfer. CONCLUSIONS: Five-to-seven nerve transfer is a viable option in facial reanimation. Shorter denervation times and preoperative flaccidity are favorable predictors of outcome. Five-to-seven nerve transfer as an adjunct to primary repair appears highly effective for enhancing smile function. Five-to-seven nerve transfer results are not reliable in patients with postparalysis facial palsy. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Development and validation of a spontaneous smile assay.

IMPORTANCE: Smiling can be a voluntary or involuntary movement. Facial reanimation procedures differ in their ability to restore a spontaneous smile, and an assay designed to evoke and evaluate a spontaneous smile is not available. OBJECTIVE: To develop and validate an assay to assess the spontaneous smile of patients with facial paralysis. DESIGN, SETTING, AND PARTICIPANTS: This was an exploratory cohort study. A series of short video clips were administered to laypersons via an online survey service from January 1, 2014, to March 31, 2014. Respondents rated how funny each video was on a visual analog scale from 0 to 100. The 4 funniest videos were selected to generate a 1½-minute spontaneous smile assay. The assay was then administered from July 1, 2014, to December 31, 2014, to 2 different study groups: the first was composed of 100 healthy individuals (control group) and the second was composed of 30 patients with facial paralysis. We analyzed the capability of this assay to provoke at least 1 spontaneous smile and calculated smile excursion in both groups. Statistical analysis was performed using analysis of variance. INTERVENTION: Spontaneous smile assay administered to both healthy and diseased groups. MAIN OUTCOMES AND MEASURES: Ability of the assay to elicit smiles, as defined by an oral commissure excursion greater than 3 mm, as well as difference in commissure excursion. RESULTS: Ninety-five (95.0%) participants in the control group and 29 (96.7%) patients with facial paralysis experienced at least 1 oral commissure excursion that appeared to be a spontaneous smile while viewing the assay. Mean oral commissure excursion with spontaneous smile was 9.08 mm (95% CI, 2.77-15.39) in controls, 6.72 mm (95% CI, 3.13-10.31) on the healthy side in patients with flaccid facial paralysis (P=.004 vs controls), and 9.64 mm (95% CI, 3.52-15.76) on the healthy side in patients with nonflaccid facial paralysis (P=.74). Among patients with flaccid facial paralysis, a statistically significant difference was found between smile excursion of the affected and the unaffected sides (P = .03). There was no statistically significant difference in the measurement between sides for the control group (P = .67). CONCLUSIONS AND RELEVANCE: Although humor is a challenging construct to universalize, our assay was able to elicit a smile in almost all individuals in the group with facial paralysis and the control group. The spontaneous smile assay will facilitate future research on the ability of facial reanimation procedures and other interventions to restore a spontaneous smile. LEVEL OF EVIDENCE: NA.