Impaired intracortical inhibition demonstrated in vivo in people with Dravet syndrome
Conclusions: There were marked differences in inhibitory networks, detected using SICI paradigms, while other inhibitory and excitatory paradigms yielded normal results. These human data showing reduced GABAergic inhibition in vivo in people with Dravet syndrome support established animal models. (Source: Neurology)
Source: Neurology - April 24, 2017 Category: Neurology Authors: Stern, W. M., Sander, J. W., Rothwell, J. C., Sisodiya, S. M. Tags: All Clinical Neurology, TMS, All Epilepsy/Seizures, All Genetics, Ion channel gene defects ARTICLE Source Type: research

Cardiorespiratory fitness alters the influence of a polygenic risk score on biomarkers of AD
Objective: To examine whether a polygenic risk score (PRS) derived from APOE4, CLU, and ABCA7 is associated with CSF biomarkers of Alzheimer disease (AD) pathology and whether higher cardiorespiratory fitness (CRF) modifies the association between the PRS and CSF biomarkers. Methods: Ninety-five individuals from the Wisconsin Registry for Alzheimer's Prevention were included in these cross-sectional analyses. They were genotyped for APOE4, CLU, and ABCA7, from which a PRS was calculated for each participant. The participants underwent lumbar puncture for CSF collection. β-Amyloid 42 (Aβ42), Aβ40, total tau ...
Source: Neurology - April 24, 2017 Category: Neurology Authors: Schultz, S. A., Boots, E. A., Darst, B. F., Zetterberg, H., Blennow, K., Edwards, D. F., Koscik, R. L., Carlsson, C. M., Gallagher, C. L., Bendlin, B. B., Asthana, S., Sager, M. A., Hogan, K. J., Hermann, B. P., Cook, D. B., Johnson, S. C., Engelman, C. D Tags: Alzheimer's disease, Risk factors in epidemiology, All Genetics ARTICLE Source Type: research

Parental family history of dementia in relation to subclinical brain disease and dementia risk
Objective: To determine the association of parental family history with risk of dementia by age at onset and sex of affected parent in a population-based cohort. Methods: From 2000 to 2002, we assessed parental history of dementia in participants without dementia of the Rotterdam Study. We investigated associations of parental history with risk of dementia until 2015, adjusting for demographics, cardiovascular risk factors, and known genetic risk variants. Furthermore, we determined the association between parental history and markers of neurodegeneration and vascular disease on MRI. Results: Of 2,087 participants (mean ...
Source: Neurology - April 24, 2017 Category: Neurology Authors: Wolters, F. J., van der Lee, S. J., Koudstaal, P. J., van Duijn, C. M., Hofman, A., Ikram, M. K., Vernooij, M. W., Ikram, M. A. Tags: Clinical neurology history, All Cognitive Disorders/Dementia, Alzheimer's disease, All epidemiology ARTICLE Source Type: research

Dopamine D2/D3 imbalance during migraine attack and allodynia in vivo
Conclusions: Our findings demonstrate that there is an imbalanced uptake of [11C]raclopride during the headache attack and ictal allodynia, which indicates reduction and fluctuation in ictal endogenous DA release in migraineurs. Moreover, the longer the history and recurrence of migraine attacks, the lower the ictal endogenous DA release. (Source: Neurology)
Source: Neurology - April 24, 2017 Category: Neurology Authors: DaSilva, A. F., Nascimento, T. D., Jassar, H., Heffernan, J., Toback, R. L., Lucas, S., DosSantos, M. F., Bellile, E. L., Boonstra, P. S., Taylor, J. M. G., Casey, K. L., Koeppe, R. A., Smith, Y. R., Zubieta, J.-K. Tags: Migraine, PET, Central pain, Basal ganglia ARTICLE Source Type: research

Viral hepatitis and Parkinson disease: A national record-linkage study
Objective: To study associations between viral hepatitis and Parkinson disease (PD). Methods: A retrospective cohort study was done by analyzing linked English National Hospital Episode Statistics and mortality data (1999–2011). Cohorts of individuals with hepatitis B, hepatitis C, autoimmune hepatitis, chronic active hepatitis, and HIV were constructed, and compared to a reference cohort for subsequent rates of PD. Results: The standardized rate ratio (RR) of PD following hepatitis B was 1.76 (95% confidence interval [CI] 1.28–2.37) (p
Source: Neurology - April 24, 2017 Category: Neurology Authors: Pakpoor, J., Noyce, A., Goldacre, R., Selkihova, M., Mullin, S., Schrag, A., Lees, A., Goldacre, M. Tags: All Infections, Viral infections, Parkinson's disease/Parkinsonism, Cohort studies, Risk factors in epidemiology ARTICLE Source Type: research

Evidence for a causal relationship between low vitamin D, high BMI, and pediatric-onset MS
Conclusions: We provide evidence supporting independent and causal effects of decreased vitamin D levels and increased BMI on susceptibility to pediatric-onset MS. (Source: Neurology)
Source: Neurology - April 24, 2017 Category: Neurology Authors: Gianfrancesco, M. A., Stridh, P., Rhead, B., Shao, X., Xu, E., Graves, J. S., Chitnis, T., Waldman, A., Lotze, T., Schreiner, T., Belman, A., Greenberg, B., Weinstock-Guttman, B., Aaen, G., Tillema, J. M., Hart, J., Caillier, S., Ness, J., Harris, Y., Rub Tags: All Pediatric, Multiple sclerosis, Case control studies, Risk factors in epidemiology, All Genetics ARTICLE Source Type: research

Nerve ultrasound: A useful screening tool for peripheral nerve sheath tumors in NF1?
Conclusions: HRUS frequently showed subclinical involvement of the peripheral nerves in NF1, also when NCS were normal. HRUS findings ranged from normal to widespread peripheral nerve involvement. Because the presence of plexiform neurofibromas and the benign tumor load are risk factors for the development of a malignant peripheral nerve sheath tumor, HRUS may be a useful tool to identify a subgroup of patients who could benefit from regular follow-up. (Source: Neurology)
Source: Neurology - April 24, 2017 Category: Neurology Authors: Telleman, J. A., Stellingwerff, M. D., Brekelmans, G. J., Visser, L. H. Tags: Ultrasound, Peripheral neuropathy, Nerve tumor, Neurofibromatosis ARTICLE Source Type: research

Cortical superficial siderosis and first-ever cerebral hemorrhage in cerebral amyloid angiopathy
Conclusions: cSS is consistently associated with an increased risk of future lobar ICH in CAA with potentially important clinical implications for patient care decisions such as antithrombotic use. (Source: Neurology)
Source: Neurology - April 24, 2017 Category: Neurology Authors: Charidimou, A., Boulouis, G., Xiong, L., Jessel, M. J., Roongpiboonsopit, D., Ayres, A., Schwab, K. M., Rosand, J., Gurol, M. E., Greenberg, S. M., Viswanathan, A. Tags: All Cerebrovascular disease/Stroke, Intracerebral hemorrhage ARTICLE Source Type: research

ELAPSS score for prediction of risk of growth of unruptured intracranial aneurysms
Conclusions: The ELAPSS score consists of 6 easily retrievable predictors and can help physicians in decision making on the need for and timing of follow-up imaging in patients with unruptured intracranial aneurysms. (Source: Neurology)
Source: Neurology - April 24, 2017 Category: Neurology Authors: Backes, D., Rinkel, G. J. E., Greving, J. P., Velthuis, B. K., Murayama, Y., Takao, H., Ishibashi, T., Igase, M., terBrugge, K. G., Agid, R., Jääskeläinen, J. E., Lindgren, A. E., Koivisto, T., von und zu Fraunberg, M., Matsubara, Tags: CT, MRI, Arteriovenous malformation, Cohort studies, Subarachnoid hemorrhage ARTICLE Source Type: research

Gaining perspective on SUDEP: The new guideline
Epilepsy is one of the most common neurologic disorders, affecting people of all ages and backgrounds. It is often burdensome, even when seizures are controlled: patients generally require daily costly medications with adverse effects and have higher rates of depression, anxiety, and cognitive disturbances. While there are many available treatments, about one-third of patients continue to have seizures, which imposes greater burdens by restricting the ability to drive, creating underemployment or unemployment, decreasing fertility and marriage rates, lowering quality of life, and causing higher morbidity. In addition, peop...
Source: Neurology - April 24, 2017 Category: Neurology Authors: Dworetzky, B. A., Kapur, J. Tags: All Pediatric, Incidence studies, Risk factors in epidemiology, All Epilepsy/Seizures EDITORIALS Source Type: research

Viral hepatitis and the risk of Parkinson disease
Parkinson disease (PD) is a chronic progressive neurodegenerative disorder with a relatively high incidence.1 PD seems to result from a complicated interplay of genetic and environmental factors affecting numerous fundamental cellular processes.2 However, the ultimate cause of loss of dopaminergic neurons in the substantia nigra pars compacta remains to be determined.2 An outright definitive cure for the disease remains elusive, leaving both patients and their caregivers with the challenge of living with a chronic medical condition that affects their health-related quality of life.2 It is therefore imperative to focus rese...
Source: Neurology - April 24, 2017 Category: Neurology Authors: Benito-Leon, J. Tags: All Infections, Parkinson's disease/Parkinsonism EDITORIALS Source Type: research

A model for predicting the growth of unruptured intracranial aneurysms: Beyond fortune telling
Because of the tremendous initial and long-term morbidity and mortality incurred by intracranial aneurysm rupture, preventive treatment of unruptured intracranial aneurysms is an appealing strategy to prevent subarachnoid hemorrhage (SAH). However, intervention with surgical or endovascular therapy has risk for considerable procedural complications, especially for large or posterior circulation aneurysms.1,2 Therefore, determining the indications for treatment is crucial to optimizing the management of unruptured aneurysms. Approximately 10% to 20% of unruptured aneurysms will enlarge over the first 10 years of follow-up, ...
Source: Neurology - April 24, 2017 Category: Neurology Authors: Ding, D., Etminan, N. Tags: Stroke prevention, Subarachnoid hemorrhage EDITORIALS Source Type: research

Spotlight on the April 25 issue
(Source: Neurology)
Source: Neurology - April 24, 2017 Category: Neurology Authors: Gross, R. A. Tags: IN FOCUS Source Type: research

Predicting growth of brain aneurysms
In their article "The ELAPSS score for prediction of risk of growth of unruptured intracranial aneurysms," Backes et al.1 developed a risk score for aneurysm growth. They followed 1,507 people who had 1,909 unruptured intracranial aneurysms (some people had more than 1 aneurysm). The patients were from several medical centers around the world: Canada, the Netherlands, Finland, China, and Japan. They were all over 18 years old. Their aneurysms were followed by several types of imaging: some centers used MRI, while others used CT angiography, or calibrated digital subtraction angiography. The local doctor deci...
Source: Neurology - April 24, 2017 Category: Neurology Authors: Karceski, S. Tags: Stroke prevention, Other cerebrovascular disease/ Stroke, All Cerebrovascular disease/Stroke PATIENT PAGES Source Type: research

Teaching NeuroImages: Acute infarction of the left medial lemniscus masquerading as a peripheral neuropathy
A 58-year-old woman with hypertension and bilateral carpal tunnel syndrome presented with acute paresthesias in her right hand and foot. She had decreased sensation to vibration and pinprick in a right-sided stocking-glove distribution. MRI of the pons confirmed an acute infarction of a paramedian branch of the basilar artery in the left medial lemniscus (figure). In the posterior column pathway, sensory projections from the face, arm, and leg are somatotopically arranged medially to laterally within the medial lemniscus.1,2 Although strokes classically present with numbness, both thalamic and medial lemniscal infarcts can...
Source: Neurology - April 24, 2017 Category: Neurology Authors: Aamodt, W. W., Siegler, J. E., Elman, L. Tags: MRI, DWI, All Cerebrovascular disease/Stroke, Central pain, Infarction RESIDENT AND FELLOW SECTION Source Type: research

Pearls & Oy-sters: Low-pressure hydrocephalus and inadequate shunting
Disabling acute or subacute hydrocephalus can occur at low intraventricular pressures (
Source: Neurology - April 24, 2017 Category: Neurology Authors: Michael, A. P., Elkouzi, A., Elble, R. J. Tags: Low pressure syndrome, Hydrocephalus RESIDENT AND FELLOW SECTION Source Type: research

Clinical Reasoning: A 71-year-old woman with subacute progressive distal weakness and paresthesia after vaccination
A 71-year-old woman presented to the emergency department complaining of weakness and a dull ache in her lower limbs and symptoms of ascending paresthesia and anesthesia, which had appeared initially in the toes, but by the time of presentation 7 days later had ascended symmetrically to the shins. By the time of admission, she had begun to describe symptoms of paresthesia in both hands. There were no other symptoms in the upper limbs, trunk, or face, and she denied any sphincter disturbance. One week before the onset of symptoms, the patient had received a flu vaccine. She denied recent fever, sore throat, or diarrhea. The...
Source: Neurology - April 24, 2017 Category: Neurology Authors: Cruz, S., Schaefer, A. M., Joshi, A., Baker, M. R. Tags: Vasculitis, Peripheral neuropathy, Guillain-Barre syndrome, EMG RESIDENT AND FELLOW SECTION Source Type: research

The common stroke
(Source: Neurology)
Source: Neurology - April 24, 2017 Category: Neurology Authors: Budhram, A. Tags: All Clinical Neurology, All Cerebrovascular disease/Stroke, All Psychiatric disorders REFLECTIONS: NEUROLOGY AND THE HUMANITIES Source Type: research

Safety of OnabotulinumtoxinA Treatment With Concomitant Antithrombotic Therapy in Patients With Post-stroke Spasticity: A Pooled Analysis of Randomized, Double-Blind Studies (S56.008)
Objective:To assess bleeding risk in patients with post-stroke spasticity (PSS) on concomitant antithrombotic therapy (ATT) who are receiving intramuscular (IM) onabotulinumtoxinA (onabotA).Background:IM injections may result in local bleeding, especially in patients receiving ATT. Pooled safety data were used to assess bleeding risk in patients with PSS on concomitant ATT receiving IM onabotA.Design/Methods:A retrospective analysis of pooled safety data from 15 randomized, double-blind, placebo-controlled Allergan-sponsored studies of onabotA for treatment of PSS evaluated safety for those receiving ATT (factor Xa inhibit...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Dimitrova, R., James, L., Liu, C., Orejudos, A., Yushmanova, I., Brin, M. Tags: Movement Disorders: Huntington ' s Disease and Drug-Induced Dyskinesias Source Type: research

Addressing Involuntary Movements in Tardive Dyskinesia (AIM-TD): Efficacy, Safety, and Tolerability of Fixed-Dose Deutetrabenazine for the Treatment of Moderate to Severe Tardive Dyskinesia (TD) (S56.007)
Conclusions:Deutetrabenazine at 24 mg/day and 36 mg/day provided clinically significant benefits, including reduction in abnormal involuntary movements on AIMS. Improvements were appreciated by clinicians, shown by improvements on the CGIC. Fixed-dose deutetrabenazine was generally well tolerated.Study Supported by:This study was funded by Teva Branded Pharmaceutical Products R&D, Inc. Petach Tikva, IsraelDisclosure: Dr. Anderson has received personal compensation for activities with LEGATO-HD, AIM-TD, ARM-TD studies. Pride-HD, First-HD, ARC-HD, and Teva CNS> Dr. Stamler has received personal compensation for activi...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Anderson, K. E., Stamler, D., Davis, M. D., Factor, S. A., Hauser, R. A., Isojarvi, J., Jimenez-Shahed, J., Ondo, W. G., Fernandez, H. H. Tags: Movement Disorders: Huntington ' s Disease and Drug-Induced Dyskinesias Source Type: research

Addressing Involuntary Movements in Tardive Dyskinesia (AIM-TD): Effect of Fixed-Dose Deutetrabenazine by Baseline Comorbidities (S56.006)
Conclusions:Deutetrabenazine provided clinically meaningful improvements in AIMS scores and CGIC regardless of psychiatric illness type, with a favorable safety/tolerability profile.Study Supported by:This study was funded by Teva Branded Pharmaceutical Products R&D, Inc. Petach Tikva, IsraelDisclosure: Dr. Anderson has received personal compensation for activities with LEGATO-HD, AIM-TD, ARM-TD studies. Pride-HD, First-HD, ARC-HD, and Teva CNS> Dr. Factor has received personal compensation for activities with Lundbeck, TEVA, Neurocrine, Avanir, Cynapsus, and Adamas as a consultant and from Uptodate as a speaker. Dr...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Anderson, K. E., Factor, S. A., Davis, M. D., Hauser, R. A., Isojarvi, J., Jimenez-Shahed, J., Stamler, D., Ondo, W. G., Fernandez, H. H. Tags: Movement Disorders: Huntington ' s Disease and Drug-Induced Dyskinesias Source Type: research

Efficacy of Valbenazine (NBI-98854) in Subjects with Tardive Dyskinesia: Results of a Long-Term Study (KINECT 3 Extension) (S56.005)
Conclusions:TD improved in subjects receiving valbenazine for 48 weeks, with TD reappearing after medication was withdrawn. Together with the long-term safety profile (presented separately), these results indicate that long-term valbenazine may be beneficial for managing TD.Study Supported by: Neurocrine Biosciences, Inc.Disclosure: Dr. Factor has received personal compensation for activities with Lundbeck, TEVA, Neurocrine, Avanir, Cynapsus, and Adamas as a consultant and from Uptodate as a speaker. Dr. Factor has received research support from Ipsen, Auspex/Teva, US World Meds, Pharm-Olam, Cynapsus Therapeutics, Solstice...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Factor, S., Comella, C., Correll, C., Liang, G., Burke, J., OBrien, C. Tags: Movement Disorders: Huntington ' s Disease and Drug-Induced Dyskinesias Source Type: research

Addressing Involuntary Movements in Tardive Dyskinesia (AIM-TD): Improvements in Clinical Global Impression of Change (CGIC) with Deutetrabenazine Treatment in Moderate to Severe Tardive Dyskinesia (TD) (S56.004)
Conclusions:Deutetrabenazine 24 and 36 mg/day led to clinically significant reductions in abnormal involuntary movements in patients with TD based on AIMS and CGIC results. The high correlation between AIMS ratings and CGIC demonstrates that treating clinicians could recognize reduced severity of movements, making results applicable to clinical practice.Study Supported by:This study was funded by Teva Branded Pharmaceutical Products R&D, Inc. Petach Tikva, IsraelDisclosure: Dr. Fernandez has received personal compensation for activities with Prime Education Inc, Carling Communications, Medscape, Biogen, GE Health Care,...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Fernandez, H. H., Hauser, R. A., Davis, M. D., Factor, S. A., Isojarvi, J., Jimenez-Shahed, J., Ondo, W. G., Stamler, D., Anderson, K. E. Tags: Movement Disorders: Huntington ' s Disease and Drug-Induced Dyskinesias Source Type: research

Pooled Analysis of Phase 3 studies of ADS-5102 (amantadine hydrochloride) extended release capsules for Levodopa-Induced Dyskinesia: A detailed review of UDysRS Results (S56.003)
Objective:Data from two Phase 3 clinical studies investigating the efficacy and safety of ADS-5102 in Parkinson’s disease (PD) patients with levodopa-induced dyskinesia (LID) were pooled to summarize results for the shared primary endpoint, Unified Dyskinesia Rating Scale (UDysRS) and its sub-components.Background:ADS-5102 (amantadine hydrochloride) extended release capsules is being developed for the treatment of LID in patients with PD. LID is characterized by involuntary movements during waking hours that are non-rhythmic, purposeless, unpredictable and occur as a result of chronic levodopa use.Design/Methods:EASE...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Pahwa, R., Tanner, C., Hauser, R., Isaacson, S., Johnson, R., Felt, L., Stempien, M. J. Tags: Movement Disorders: Huntington ' s Disease and Drug-Induced Dyskinesias Source Type: research

Huntingtin As a Scaffold for Selective Macroautophagy (S56.002)
Conclusions:Our data uncover an important physiological function of HTT and provide a missing link in the activation of selective autophagy in metazoans. This supports the potential alteration of cellular autophagic activities as a contributing factor in HD pathogenesis.We propose HTT is a scaffold protein, promoting selective autophagy by bringing together p62 and ULK1 to orchestrate two major autophagy steps: cargo recognition and autophagy induction.Study Supported by: R01-NS069880 (SZ), R&R Belfer, P01-AG031782 & AG038072 (AMC)Disclosure: Dr. Furr-Stimming has received personal compensation for activities with ...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Furr-Stimming, E., Rui, Y.-N., Xu, Z., Patel, B., Chen, Z., Chen, D., Bellen, H., Tito, A., David, G., Sun, Y., Cuervo, A. M., Zhang, S. Tags: Movement Disorders: Huntington ' s Disease and Drug-Induced Dyskinesias Source Type: research

Selectivity and Biodistribution of WVE-120101, a Potential Antisense Oligonucleotide Therapy for the Treatment of Huntingtons Disease (S56.001)
Conclusions:The stereopure ASO, WVE-120101, selectively reduced mHTT compared with wtHTT, and can access areas of the brain believed to be involved in HD.Study Supported by: WAVE Life SciencesDisclosure: Dr. Meena has received personal compensation for activities with WAVE Life Sciences as an employee. Dr. Zboray has nothing to disclose. Dr. Svrzikapa has received personal compensation for activities with WAVE Life Sciences as an employee. Dr. Mas Monteys has nothing to disclose. Dr. Mohapatra has received personal compensation for activities with WAVE Life Sciences as an employee. Dr. Lonkar has received personal compensa...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Meena, M., Zboray, L., Svrzikapa, N., Monteys, A. M., Mohapatra, S., Lonkar, P., Sokolovsk, A., Yang, H., Iwamoto, N., Butler, D., Bowman, K., Standley, S., Shimizu, M., Frank-Kamenetsky, M., Francis, C., Davidson, B., Vargeese, C. Tags: Movement Disorders: Huntington ' s Disease and Drug-Induced Dyskinesias Source Type: research

Thirty-day readmission rate, cost, causes and predictors for Convulsive Status Epilepticus (S55.008)
The objective of our study was to investigate the readmission rate, predictors, cost, and the top causes of readmission in Status epilepticus patients.Background:Convulsive status epilepticus patients are highly vulnerable to readmission given various health comorbidities, complexities of medication regimes, and discharge instructions. Since national estimates of 30-day readmission in convulsive status epilepticus patients in the United States (US) are unknown, this study attempts to investigate its cost, causes, and predictors of readmission.Design/Methods:We used Nationwide readmission database (NRD 2013), a subset of He...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Patel, S., Desai, R., Mansuri, U., Sethi, C., Mehta, T. Tags: Epilepsy and Clinical Neurophysiology (EEG) III Source Type: research

Neuroinflammation in epilepsy: an analysis of patients sera and its effect on microglia-like cells (S55.007)
Conclusions:Our preliminary findings suggest that there may be differences in circulating mediators of inflammation in patients with poorly controlled seizures as well as an association between increased proinflammatory mediators with increased depressive scores in epilepsy.Study Supported by: UCB provided research funding for portions of the studyDisclosure: Dr. Sarkis has nothing to disclose. Dr. Olah has nothing to disclose. Dr. Llewellyn has nothing to disclose. Dr. Buttrick has nothing to disclose. Dr. Ryan has nothing to disclose. Dr. De Jager has received research support from Biogen Idec and Genzyme. Dr. Pennell ha...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Sarkis, R., Olah, M., Llewellyn, N., Buttrick, T., Ryan, K., De Jager, P., Pennell, P., Bradshaw, E., Elyaman, W. Tags: Epilepsy and Clinical Neurophysiology (EEG) III Source Type: research

7T MRS findings in focal epilepsy related to common malformations of cortical development (S55.006)
Conclusions:Decreased levels of Glu/tCr in patients with FCD and relatively increased Glu/tCr in PMG suggests novel metabolic distinction between these two groups. Further evaluation with tissue correction can provide more precision and validation of these differences.Study Supported by: NADisclosure: Dr. Knowlton has received personal compensation for activities with UCB Pharma as a speaker. Dr. Knowlton has received research support from Elgavish Paramagnetics. Dr. Tan has nothing to disclose. Dr. Kim has nothing to disclose. Dr. Hess has nothing to disclose. Dr. Li has nothing to disclose. (Source: Neurology)
Source: Neurology - April 17, 2017 Category: Neurology Authors: Knowlton, R., Tan, Y.-L., Kim, H., Hess, C., Li, Y. Tags: Epilepsy and Clinical Neurophysiology (EEG) III Source Type: research

Pharmacokinetics of Midazolam Nasal Spray in Pediatric Subjects with Epilepsy (S55.005)
Objective:Characterize pharmacokinetics (PK) of midazolam (MDZ) nasal spray (USL261) in pediatric subjects with epilepsy.Background:USL261 is in development as rescue treatment for individuals with intermittent bouts of increased seizure activity.Design/Methods:This open-label, phase 1 study evaluated single-dose PK of USL261. Subjects (2–13 years) with focal or generalized epilepsy received 5.0, 2.5, or 1.25 mg USL261 based on body weight (≥40–≤60, ≥20–
Source: Neurology - April 17, 2017 Category: Neurology Authors: Berg, A., Bancke, L., Kapelan, B., Meng, T.-C., Moe, C., Van Ess, P. Tags: Epilepsy and Clinical Neurophysiology (EEG) III Source Type: research

The Sabril Registry After 7 Years: Patient Characteristics and Vision Loss (S55.004)
Conclusions:Most registry patients who discontinued VGB did so because they had completed treatment. Reductions in VA and VF were detected in a small subset of patients who underwent testing; however, too few patients could undergo VF testing to reliably determine frequency of VGB-associated changes.Study Supported by: Lundbeck LLCDisclosure: Dr. Sergott has received personal compensation for activities with Biogen-Idec, EMDSerono, Teva, Lundbeck, Pfizer, Thrombogenics, Sanofi-Aventis, Novartis, BioClinica, Covance, Basilea, Heidelberg Engineering, Merck and Co., Glaxo, and United States Department of Defense. Dr. Foroozan...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Sergott, R. C., Foroozan, R., Faught, E., Shields, W. D., Ziemann, A., Othman, F., Sayeed, S., Cherny, K. Tags: Epilepsy and Clinical Neurophysiology (EEG) III Source Type: research

Improving Quality of Life in Epilepsy: Replication and Generalizability of an Epilepsy Self-Management and Cognitive Training Program (HOBSCOTCH) (S55.003)
Conclusions:Initial results from a small cohort of the HOBSCOTH replication trial show a significant increase in overall quality of life scores for the combined treatment group. This finding replicates that of the initial HOBSCOTCH trial and supports the generalizability of this program in other centers across Northern New England.Disclosure: Dr. Streltzov has nothing to disclose. Dr. Schimdt has nothing to disclose. Dr. Zhao has nothing to disclose. Dr. Roth has received personal compensation for activities with Creare LLC. Dr. Secore has received personal compensation for activities with Lundbeck. Dr. Schommer has nothin...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Streltzov, N., Schimdt, S., Zhao, W., Roth, R., Secore, K., Schommer, L., Birney, K., Jarvis, P., Henninger, H., Chu, F., Nagle, K., Jobst, B. Tags: Epilepsy and Clinical Neurophysiology (EEG) III Source Type: research

Chronic Ambulatory Human ECoG as a Tool to Assess Response to Antiepileptic Medications (S55.002)
Objective:Assess changes in ECoG activity, recorded by a brain responsive neurostimulator (RNS® System, NeuroPace Inc.), with the initiation of the antiepileptic medications (AEDs) clobazam (CLO), eslicarbazepine (ESL), and levetiracetam (LEV).Background:Subjects in a long-term open-label study were identified who began one of these AEDs and remained on a stable dose for ≥3 months.Design/Methods:Subjects included in the analysis had ≥10 ECoG samples stored at scheduled times of day during 3 months immediately prior to the first AED dose (PRE) and for the first 3 months at a stable dose (DRUG). Spike rates and tot...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Skarpaas, T., Desai, S., Tcheng, T., Morrell, M. Tags: Epilepsy and Clinical Neurophysiology (EEG) III Source Type: research

Interictal network synchrony and local heterogeneity predict seizure relief following pediatric epilepsy surgery (S55.001)
In this study, we assessed whether local and global measures of network activity differentiated patients with favorable (seizure-free) versus unfavorable (seizure-persistent) epilepsy surgery outcomes.Design/Methods:Seventeen pediatric intracranial EEG (IEEG) recordings were retrospectively analyzed. For each patient, 1200 random interictal epochs of 1-sec duration were examined. Connectivity networks were derived using an amplitude cross-correlation technique (Spearman correlation). Global network synchrony was computed as the mean of the pairwise connection weights. Local signal heterogeneity was defined as the variabili...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Tomlinson, S., Marsh, E., Porter, B. Tags: Epilepsy and Clinical Neurophysiology (EEG) III Source Type: research

Development of the UK Hereditary Spastic Paraplegia registry: analysis of SPAST patients reveals high rate of psychiatric comorbidities (S54.008)
Conclusions:This study, one of the largest collections of genetically confirmed spastin patients to date, contributes with the discovery of a significant number of novel SPAST mutations and provides new insights into SPAST related HSP. In particular, the previously under-recognized association with autism and psychiatric illness needs to be confirmed in other genes and cohorts to determine if this is a specific effect of spastin mutations.Disclosure: Dr. Chelban has nothing to disclose. Dr. Tucci has nothing to disclose. Dr. Houlden has nothing to disclose. Dr. Wood has nothing to disclose. (Source: Neurology)
Source: Neurology - April 17, 2017 Category: Neurology Authors: Chelban, V., Tucci, A., Houlden, H., Wood, N. Tags: Motor Neuron Disease and Myopathies Source Type: research

Myopalladin recessive mutations cause congenital cap myopathy (S54.007)
Conclusions:Autosomal dominant mutations in MYPN gene have been reported in dilated, restrictive or hypertrophic cardiomyopathies (MIM#615248) without skeletal muscle involvement. Our findings demonstrate that recessive MYPN gene mutations cause cap myopathy. This suggests that MYPN is involved in two different diseases through different modes of inheritance.Study Supported by:This work was supported in part by the Assistance Publique-Hôpitaux de Paris (AP-HP), the Association Française contre les Myopathies (AFM), and the Association Institut de Myologie (AIM).Disclosure: Dr. Malfatti* has nothing to disclose...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Malfatti, E., Lornage, X., Cheraud, C., Schneider, R., Biancalana, V., Cuisset, J.-M., Garibaldi, M., Eymard, B., Fardeau, M., Boland, A., Deleuze, J.-F., Thompson, J., Bohm, J., Romero, N. B., Laporte, J. Tags: Motor Neuron Disease and Myopathies Source Type: research

Amyloid Myopathy With and Without Systemic Amyloidosis (S54.006)
Conclusions:About 1/3 of amyloid myopathy patients have amyloid deposits exclusively in skeletal muscle. Molecular defects remain unknown in 45% of patients with isolated amyloid myopathy. Anoctaminopathy-5 accounts for 80% of genetically-diagnosed isolated amyloid myopathy. Clinical, laboratory and pathological features may help differentiate between amyloid myopathy with and without systemic amyloidosis.Disclosure: Dr. Liewluck has nothing to disclose. Dr. Milone has nothing to disclose. (Source: Neurology)
Source: Neurology - April 17, 2017 Category: Neurology Authors: Liewluck, T., Milone, M. Tags: Motor Neuron Disease and Myopathies Source Type: research

Connexin 43 affects disease progression and motor neuron toxicity in Amyotrophic Lateral Sclerosis (S54.005)
Conclusions:Cx43 protein levels are elevated in human sporadic patients and correlate with the rapidity of disease progression in ALS. In our ALS model, reducing the expression of Cx43 results in a temporal and anatomical delay in disease progression. This novel observation may offer a potential druggable target to delay disease spread after onset.Study Supported by:NIH R21NS093244.Disclosure: Dr. Almad has nothing to disclose. Dr. Welsh has nothing to disclose. Dr. Patankar has nothing to disclose. Dr. Richard has nothing to disclose. Dr. Huo has nothing to disclose. Dr. Gross has nothing to disclose. Dr. Maragakis has re...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Almad, A., Welsh, C., Patankar, A., Richard, J.-P., Huo, Y., Gross, S., Maragakis, N. Tags: Motor Neuron Disease and Myopathies Source Type: research

Structural organization of the brain connectome in patients with primary lateral sclerosis (S54.004)
Conclusions:This study showed widespread motor/extra-motor network degeneration in ALS and PLS, suggesting that graph analysis and connectomics might represent a powerful approach to detect upper motor neuron degeneration, extra-motor brain changes and network reorganization associated with the disease. Our findings indicate that structural and functional network degeneration in ALS and PLS is coupled, with the most prominent effects on structural connectivity.Study Supported by: Italian Ministry of Health (#RF-2011-02351193)Disclosure: Dr. Basaia has nothing to disclose. Ms. Agosta has received personal compensation for a...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Basaia, S., Agosta, F., Ferraro, P. M., Riva, N., Galantucci, S., Falzone, Y., Chio, A., Falini, A., Comi, G., Filippi, M. Tags: Motor Neuron Disease and Myopathies Source Type: research

Spread of pathogenic and non-pathogenic cytosolic proteins between motor neurons in chimeric mice (S54.003)
Conclusions:Mutant SOD1, wt SOD1, and eGFP can spread between motor neurons in the spinal cord of chimeric mice, supporting the existence of a general mechanism for transfer of cytosolic proteins between motor neurons. Cell-to-cell protein transfer may be a phenomenon important both physiologically and in disease.Study Supported by: Howard Hughes Medical Institute; grant from BiogenDisclosure: Dr. Thomas has nothing to disclose. Dr. Fenton has nothing to disclose. Dr. McGrath has nothing to disclose. Dr. Horwich has nothing to disclose. (Source: Neurology)
Source: Neurology - April 17, 2017 Category: Neurology Authors: Thomas, E., Fenton, W., McGrath, J., Horwich, A. Tags: Motor Neuron Disease and Myopathies Source Type: research

RNA-seq for the diagnosis of inherited myopathies: a pilot study (S54.002)
Conclusions:RNA-seq holds promise as an adjunct to panel sequencing in the diagnosis of inherited myopathies by identifying mutations affecting splicing and expression of known myopathy genes and by identifying novel mutations in genes not previously known to cause muscle disease.Study Supported by:This work was made possible by funding from the Fondation GO, the McGill University department of Pathology, the Montreal Neurological Institute, the Canadian Institutes of Health Research and the Fonds de recherche du Québec – Santé.S. Nicolau and M. Tetreault contributed equally to this work as first author...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Nicolau, S., Tetreault, M., Choquet, K., Shao, Y.-H., OFerrall, E. K., Bareke, E., Majewski, J., Brais, B., Karamchandani, J. Tags: Motor Neuron Disease and Myopathies Source Type: research

Quantitative ultrasound reveals the impact of corticosteroids on skeletal muscle (S54.001)
Conclusions:Quantitative ultrasound measures GSL and QBA can determine the impact of prolonged corticosteroid therapy on muscle. Of the muscles tested, the tibialis anterior appears to show the greatest difference. This novel and unexpected finding may relate to the relatively high proportion of Type 2 muscle fibers in that muscle.Study Supported by:NIH K24 NS060951Disclosure: Dr. Martucci has nothing to disclose. Dr. McIlduff has nothing to disclose. Dr. Nam has nothing to disclose. Dr. Shin has nothing to disclose. Dr. Phillips has nothing to disclose. Dr. Greenstein has nothing to disclose. Dr. Uhlmann has nothing to di...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Martucci, M., McIlduff, C., Nam, J. Y., Shin, C., Phillips, K., Greenstein, P., Uhlmann, E., Wong, E., Rutkove, S. Tags: Motor Neuron Disease and Myopathies Source Type: research

Neurite Orientation Dispersion and Density Imaging (NODDI) highlights axonal degeneration of the motor tracts as the core feature underlying Amyotrophic Lateral Sclerosis. (S53.008)
Objective:Compare neurite density in the white and gray matter in Amyotrophic Lateral Sclerosis (ALS) using NODDI, and ascertain how axonal degeneration relates to dendritic damage.Background:NODDI is a quantitative diffusion imaging technique which characterises microstructural features within the intra-neurite, extra-neurite, and cerebrospinal fluid compartments. NODDI yields indices of neurite density index (NDI), orientation dispersion index (ODI), and isotropic compartment (ISO). We used NODDI to investigate for abnormalities in neurite density accompanying ALS and assess how changes occurring within the corticospinal...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Broad, R., Gabel, M., Dowell, N., Zhang, H., Alexander, D., Cercignani, M., Leigh, P. Tags: General Neurology: Mechanisms and Diagnosis in Overlapping Medical and Neurological Diseases Source Type: research

Examining the Spectrum of Reversibles: RCVS and PRES at Mayo Clinic Arizona (S53.007)
Conclusions:This large series of patients with clinical and radiographic features of PRES identified the presence of RCVS in over 24% of patients; a finding that is of critical importance in understanding the pathogenesis of these disorders, their diagnosis, and their management.Disclosure: Dr. Steenerson has nothing to disclose. Dr. Pena has nothing to disclose. Dr. Starling has received personal compensation for activities with Amgen and eNeura as a consultant. Dr. Goodman has nothing to disclose. Dr. Temkit has nothing to disclose. Dr. O'Carroll has nothing to disclose. (Source: Neurology)
Source: Neurology - April 17, 2017 Category: Neurology Authors: Steenerson, K., Pena, A., Starling, A., Goodman, B., Temkit, H., OCarroll, C. Tags: General Neurology: Mechanisms and Diagnosis in Overlapping Medical and Neurological Diseases Source Type: research

Visual Disturbances in a Case of Tentorium Hypoplasia Associated with Migrational Abnormality (S53.006)
Conclusions:Tentorium Hypoplasia is rarely associated with symptoms. In our case herniation of the anterior cuneus through the tentorial defect in combination with a congenital migrational anomaly led to a symptomatic visual field defect. This constellation of findings has not been previously described in the literature.Disclosure: Dr. Kurian has nothing to disclose. Dr. Iqbal has nothing to disclose. Dr. Zisman has nothing to disclose. Dr. Sun has nothing to disclose. Dr. Tenner has nothing to disclose. Dr. Mehta has nothing to disclose. Dr. Bobra has nothing to disclose. Dr. Ahluwalia-Singh has nothing to disclose. Dr. T...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Kurian, C., Iqbal, A., Zisman, C., Sun, Y., Tenner, M., Mehta, H., Bobra, S., Ahluwalia-Singh, B., Thomas, A. Tags: General Neurology: Mechanisms and Diagnosis in Overlapping Medical and Neurological Diseases Source Type: research

A proposed mechanism of neuronal injury in pilots and aircrew personnel with hypobaric exposure (s53.005)
Conclusions:Significant declines in markers of neuronal integrity suggest that oxidative stress is evident within 24 hours of hypobaric exposure. The increase in CBF measured by ASL in subjects exposed to hypobaric conditions is a response to oxidative damage and is evidence of increased metabolic demand. This study provides evidence that white matter hyperintensity formation may occur because of repeated oxidative stress without adequate time for healing. Cerebral white matter hyperintensities in this population are likely a function of both cumulative effects as well as frequency of hypobaric exposure.Disclosure: Dr. Hos...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Hossack, M., Sladky, J., McGuire, S. Tags: General Neurology: Mechanisms and Diagnosis in Overlapping Medical and Neurological Diseases Source Type: research

Synthetic Cannabinoids/K2 :Recognizing the neurotoxicity of a legal but potentially lethal substance of abuse (S53.004)
Conclusions:Our experience reflects a higher mortality rate than previously reported, which is concerning. Our findings also corroborate with previous reports of a possible reversible cerebral vasoconstriction mechanism for cerebral injury.Severe adverse effects with SCBs are possibly because of their different chemical structure and that they are full agonists at the cannabinoid receptors, compared to THC which is only a partial agonist.Lack of easy access to a commercially available test for K2 compounds also hinders early diagnosis. We anticipate that reported injuries and deaths will significantly increase as detection...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Sheharyar, A., Jayaraman, D. K., Prabhu, A., Roby, D. Tags: General Neurology: Mechanisms and Diagnosis in Overlapping Medical and Neurological Diseases Source Type: research

Approach towards an ALS-specific structural marker of motor tract integrity for the description of different ALS progression types using diffusion-weighted imaging (S53.003)
Conclusions:Diffusion-weighted FA may be considered as a MRI marker for the description of ALS-specific white matter pathology. The approach towards an ALS-specific structural marker for white matter degeneration linked to ALS-FRS-R decline may add in predicting disease progression.Study Supported by:The current study is funded by the German Federal Ministry of Education and Research (BMBF, Project GO-Bio).Disclosure: Dr. Wirth has nothing to disclose. Dr. Khomenko has nothing to disclose. Dr. Baldaranov has nothing to disclose. Dr. Johannesen has nothing to disclose. Dr. Kobor has nothing to disclose. Dr. Brunn has receiv...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Wirth, A. M., Khomenko, A., Baldaranov, D., Johannesen, S., Kobor, I., Bruun, T.-H., Greenlee, M. W., Deppe, M., Bogdahn, U. Tags: General Neurology: Mechanisms and Diagnosis in Overlapping Medical and Neurological Diseases Source Type: research

Using Artificial Intelligence to Reduce Risk of Non-Adherence in Patients on Anticoagulation Therapy (S53.002)
Conclusions:Elderly stroke patients, many with little experience using a smartphone, successfully used an AI application to monitor and increase adherence to anticoagulation therapy over 12 weeks. Patients monitored by the AI Platform demonstrated a 50% absolute improvement in adherence based on plasma drug levels. Continuous monitoring has the potential to increase adherence, change patient behavior and reduce the risks associated with non-adherence, particularly in patients on DOAC therapy.Study Supported by:AcknowledgmentFunding was received from the National Center for Advancing Translational Sciences (NCATS), grant nu...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Labovitz, D., Shafner, L., Virmani, D., Hanina, A. Tags: General Neurology: Mechanisms and Diagnosis in Overlapping Medical and Neurological Diseases Source Type: research

Decreased Ceramide in Charcot Marie Tooth 2F Mediates Mitochondrial Dysfunction (S53.001)
Conclusions:These results suggest that mutant Hsp27 alters sphingolipid metabolism by dysregulating ceramide levels, producing structural and functional changes in mitochondria that lead to neuronal degeneration in CMT2F. By developing an understanding of the mechanism of how altered ceramide generation affects mitochondria and neurodegeneration, we will be able to identify targets in the development of novel treatments to reduce the severity of CMT2F or other neuropathies with similar mechanisms.Disclosure: Dr. Schwartz has nothing to disclose. Dr. Linzer has nothing to disclose. Dr. Schwartz has nothing to disclose. Dr. ...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Schwartz, N., Linzer, R., Senkal, C., Obeid, L. Tags: General Neurology: Mechanisms and Diagnosis in Overlapping Medical and Neurological Diseases Source Type: research