X‐linked Charcot‐Marie‐Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene

Charcot‐Marie‐Tooth disease (CMT) is the most common inherited peripheral neuropathy. Mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene have been found to cause X‐linked dominant CMT type 6 (CMTX6). This study identified the p.R158H PDK3 mutation after screening 67 probable X‐linked CMT families. The mutation fully segregated with the phenotype, and genotyping the family indicated the mutation arose on a different haplotype compared with the original Australian CMTX6 family. Results of bisulphite sequencing suggest that methylated deamination of a CpG dinucleotide may cause the recurrent p.R158H mutation. The frequency of the p.R158H PDK3 mutation in Koreans is very rare. Magnetic resonance imaging revealed fatty infiltration involving distal muscles in the lower extremities. In addition, fatty infiltrations were predominantly observed in the soleus muscles, with a lesser extent in tibialis anterior muscles. This differs from demyelinating CMT1A patients and is similar to axonal CMT2A patients. The clinical, neuroimaging, and electrophysiological findings from a second CMTX6 family with the p.R158H PDK3 mutation were similar to the axonal neuropathy reported in the Australian family.     

Habitual Sleep Duration,Unmet Sleep Need,and Excessive Daytime Sleepiness in Korean Adults

MethodsThe participants comprised 2,769 Korean adults aged 19 years or older. They completed questionnaires about their sleep habits over the previous month. The question regarding sleep need was "How much sleep do you need to be at your best during the day?" Unmet sleep need was calculated as sleep need minus habitual sleep duration. Participants with a score of >10 on the Epworth Sleepiness Scale were considered to have EDS.ResultsThe overall prevalence of EDS was 11.9%. Approximately one-third of the participants (31.9%) reported not getting at least 7 hours of sleep. An unmet sleep need of >0 hours was present in 30.2% of the participants. An adjusted multivariate logistic regression analysis revealed a significant excess risk of EDS in the groups with unmet sleep needs of ≥2 hours [odds ratio (OR), 1.80; 95% confidence interval (CI), 1.27–2.54] and 0.01–2 hours (OR, 1.42; 95% CI, 1.02–1.98). However, habitual sleep duration was not significantly related to EDS.ConclusionsEDS was found to be associated with unmet sleep need but not with habitual sleep duration when both factors were examined together. We suggest that individual unmet sleep need is more important than habitual sleep duration in terms of the relation to EDS.     

Perfusion-Weighted MRI Parameters for Prediction of Early Progressive Infarction in Middle Cerebral Artery Occlusion

ObjectiveEarly progressive infarction (EPI) is frequently observed and related to poor functional outcome in patients with middle cerebral artery (MCA) infarction caused by MCA occlusion. We evaluated the perfusion parameters of magnetic resonance imaging (MRI) as a predictor of EPI.MethodsWe retrospectively analyzed patients with acute MCA territory infarction caused by MCA occlusion. EPI was defined as a National Institutes of Health Stroke Scale increment ≥2 points during 24 hours despite receiving standard treatment. Regional parameter ratios, such as cerebral blood flow and volume (rCBV) ratio (ipsilateral value/contralateral value) on perfusion MRI were analyzed to investigate the association with EPI.ResultsSixty-four patients were enrolled in total. EPI was present in 18 (28%) subjects and all EPI occurred within 3 days after hospitalization. Diabetes mellitus, rCBV ratio and regional time to peak (rTTP) ratio showed statically significant differences in both groups. Multi-variate analysis indicated that history of diabetes mellitus [odds ratio (OR), 6.13; 95% confidence interval (CI), 1.55–24.24] and a low rCBV ratio (rCBV, <0.85; OR, 6.57; 95% CI, 1.4–30.27) was significantly correlated with EPI.ConclusionThe incidence of EPI is considerable in patients with acute MCA territory infarction caused by MCA occlusion. We suggest that rCBV ratio is a useful neuro-imaging parameter to predict EPI.     

Long-Term Follow-Up Results of Anterior Cervical Inter-Body Fusion with Stand-Alone Cages

ObjectiveThe purpose of this study was to evaluate long-term follow-up radiologic/clinical outcomes of patients who underwent anterior cervical discectomy and inter-body fusion (ACDF) with stand-alone cages (SAC) in a single academic institution.MethodsTotal 99 patients who underwent ACDF with SAC between February 2004 and December 2012 were evaluated retrospectively. A total of 131 segments were enrolled in this study. Basic demographic information, radiographic [segmental subsidence rate, fusion rate, C2–7 global angle, and segmental angle changes)/clinical outcomes (by Odom''s criteria and visual analog score (VAS)] and complications were evaluated to determine the long-term outcomes.ResultsThe majority were males (55 vs. 44) with average age of 53.2. Mean follow-up period was 62.9 months. The segmental subsidence rate was 53.4% and fusion rate was 73.3%. In the subsidence group, anterior intervertebral height (AIH) had more tendency of subsiding than middle or posterior intervertebral height (p=0.01). The segmental angle led kyphotic change related to the subsidence of the AIH. Adjacent segmental disease was occurred in 18 (18.2%) patients. Total 6 (6%) reoperations were performed at the index level. There was no statistical significance between clinical and radiological outcomes. But, overall long-term clinical outcome by Odom''s criteria was unsatisfactory (64.64%). The neck and arm VAS score were increased by over time.ConclusionLong-term outcomes of ACDF with SAC group were acceptable but not satisfactory. For optimal decision making, more additional comparative long-term outcome data is needed between ACDF with SAC and ACDF with plating.     

Impaired Perception of Emotional Expression in Amyotrophic Lateral Sclerosis

MethodsTwenty-four patients with ALS and 24 age- and sex-matched healthy controls completed neuropsychological tests and facial emotion recognition tasks [ChaeLee Korean Facial Expressions of Emotions (ChaeLee-E)]. The ChaeLee-E test includes facial expressions for seven emotions: happiness, sadness, anger, disgust, fear, surprise, and neutral.ResultsThe ability to perceive facial emotions was significantly worse among ALS patients performed than among healthy controls [65.2±18.0% vs. 77.1±6.6% (mean±SD), p=0.009]. Eight of the 24 patients (33%) scored below the 5th percentile score of controls for recognizing facial emotions.ConclusionsEmotion perception deficits occur in Korean ALS patients, particularly regarding facial expressions of emotion. These findings expand the spectrum of cognitive and behavioral dysfunction associated with ALS into emotion processing dysfunction.     

Intramuscular nerve distribution pattern of ankle invertor muscles in human cadaver using sihler stain

Introduction: We sought to the ideal sites for botulinum toxin injection by examining the intramuscular nerve patterns of the ankle invertors. Methods: A modified Sihler method was performed on the flexor hallucis longus, tibialis posterior, and flexor digitorum longus muscles (10 specimens each). The muscle origins, nerve entry points, and intramuscular arborization areas were measured as a percentage of the total distance from the most prominent point of the lateral malleolus (0%) to the fibular head (100%). Results: Intramuscular arborization patterns were observed at 20–50% for the flexor hallucis longus, 70–80% for the tibialis posterior, and 30–40% for the flexor digitorum longus. Conclusions: These findings suggest that treatment of muscle spasticity of the ankle invertors involves botulinum toxin injections in specific areas. These areas, corresponding to the areas of maximum arborization, are recommended as the most effective and safest points for injection. Muscle Nerve 53 : 742–747, 2016     

Task influences pattern discriminability for faces and bodies in ventral occipitotemporal cortex

Our prior research showed that faces and bodies activate overlapping regions of the ventral occipitotemporal cortex (VOTC). However, faces and bodies were nonetheless discriminable in these same overlapping regions when their spatial patterns of activity were classified using multivoxel pattern analysis (MVPA). Here we investigated whether these spatial patterns and their time courses were influenced by different categorization tasks. Participants viewed pictures of faces or headless bodies depicting a happy or fearful emotion. In one task, they categorized the picture as a face or a body regardless of emotion. In the other task, they categorized the emotion regardless of whether it was depicted by a face or body. Using a classifier trained on independent data, we found higher face–body classification accuracy for the emotion categorization task. The classifier was applied to each post-stimulus time-point to characterize the temporal course of classification. Accuracy initially rose equivalently above chance for both tasks, but then increased over a longer duration when participants categorized emotions. Thus, the temporal course of pattern differences between faces and bodies in VOTC was modulated by the behavioral goal of the observer, suggesting the top-down modulatory effect of task context on the category-selectivity activity in the VOTC.