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This page shows you the most recent publications within this specialty of the MedWorm directory. This is page number 9.

A Polio-Like Syndrome in California: Clinical, Radiologic, and Serologic Evaluation of Five Children Identified by a Statewide Laboratory over a Twelve-Months Period (P3.335)
CONCLUSIONS: These cases highlight the possibility of an emerging infectious polio-like syndrome in California. This has important implications for disease surveillance, testing, and treatment.Study Supported by:Disclosure: Dr. ROUX has nothing to disclose. Dr. Lulu has received research support from the National Multiple Sclerosis Society, and Biogen Idec. Dr. Waubant has received personal compensation for activities with Roche Diagnostics Corporation, Biogen Idec, Sanofi-Aventis Pharmaceuticals Inc., Genzyme Corporation, and Novartis. Dr. Glaser has nothing to disclose. Dr. van Haren has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Roux, A., Lulu, S., Waubant, E., Glaser, C., Van Haren, K. Tags: Child Neurology and Developmental Neurology III Source Type: research

Lupus-Associated Transverse Myelitis Masquerading as Septic Shock (P4.026)
ConclusionsThis is the first description of lupus presenting as spinal shock. We showcase relative bradycardia as a marker for neurogenic shock, and highlight the importance of effective communication between neurologists, intensivists and emergency physicians.Study Supported by: not applicableDisclosure: Dr. Dave has nothing to disclose. Dr. Ramos Estebanez has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Dave, R., Ramos Estebanez, C. Tags: General Neurology III Source Type: research

Multiple Cranial Neuropathy in Paraneoplastic Anti-Hu Antibody Syndrome (P4.029)
CONCLUSION: Anti-Hu syndrome most commonly presents with sensory neuronpathy. This patient developed an axonal sensory neuronopthy followed by multiple unilateral cranial nerve palsies without evidence of leptomeningeal metastasis resulting in significant morbidity.Disclosure: Dr. Schmidt has nothing to disclose. Dr. Solomon has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Schmidt, T., Solomon, A. Tags: General Neurology III Source Type: research

Akinetic Mutism And Parkinsonian Features Progressing To Coma Following A Hypoxic Event With Extended Lucid Interval: Manifestations Of Delayed Post-Hypoxic Leukoencephalopathy (P4.033)
CONCLUSIONS: Clinical anticipation and recognition of DPHL should lead to earlier diagnosis and higher-value care.Disclosure: Dr. Doerner Rinaldi has nothing to disclose. Dr. Miller has nothing to disclose. Dr. Czeisler has nothing to disclose. Dr. Willey has nothing to disclose. Dr. John has nothing to disclose. Dr. Claassen has nothing to disclose. Dr. Mayer has received personal compensation for activities with Actelion, Baxter, Biogen Idec, Codman/Johnson & Johnson Company, CSL Behring, Cornerstone Therapeutics, CR Bard, Novartis, Orsan Technologies, Pfizer Inc, Sage Therapeutics, and Stryker. Dr. Mayer has receive...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Doerner Rinaldi, A. P., Miller, E., Czeisler, B., Willey, J., John, C., Claassen, J., Mayer, S., Agarwal, S. Tags: General Neurology III Source Type: research

Metachromatic Leukodystrophy Mistaken For Manganese Toxicity In A Patient With Common Variable Immunodeficiency: A New Triad Of Devastating Disease? (P4.035)
CONCLUSIONS:Although thought of as a more "benign" disease variant, adult onset MLD may have a fatal presentation in patients with CVID. A triad of disease including CVID, elevated manganese, and MLD resulting in rapid progression and death may exist. In patients with CVID presenting with rapid progression and elevated manganese, adult onset MLD should be part of the differential.Study Supported by:Disclosure: Dr. Ahmed has nothing to disclose. Dr. Abboud has nothing to disclose. Dr. Manno has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Ahmed, Z., Abboud, H., Manno, E. Tags: General Neurology III Source Type: research

A Rare Case of Churg Strauss Syndrome Associated with Cervical Spine and Brain Involvement (P4.037)
CONCLUSIONS:This patient meets four major criteria for diagnosis of CSS ( presence of sinusitis, histologic evidence of eosinophilic vasculitis, peripheral eosinophilia and pulmonary infiltrates). CSS associated with spine vasculitis is a rare but potentially serious clinical entity that may also lead to vascular/granulomatous compressive complications leading to permanent neurological damage. This may be only the second case of spinal cord non-hemorrhagic myelitis associated with CSS.Study Supported by:Disclosure: Dr. Mittal has nothing to disclose. Dr. Acsadi has received personal compensation for activities with Talecri...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Mittal, S., Acsadi, A., Cruz, L., Aglio, T., Ek, K., Lakshminarayanan, S., Logee, K. Tags: General Neurology III Source Type: research

Safety and Tolerability of Systemic Beta-2-Adrenergic AgonistAlbuterol as Pharmacological Therapy in Non-Invasive Ventilation NIV -supported Amyotrophic Lateral SclerosisALSPatients with Chronic Respiratory Failure (P4.079)
CONCLUSIONS:Systemic albuterol is 94.2% tolerable when used in NIV-supported ALS patients.M NIV-supported ALS patients more commonly required albuterol.VC was maintained at 3 months without change but not at 6 months in albuterol-treated NIV-supported ALS patients.Further studies are required on pharmacologically enhancing the treatment of NIV-supported ALS patients.Study Supported by:Carolinas ALS Research Fund/Pinstripes Fund/Carolinas Garden of Hope/Carolinas Healthcare FoundationDisclosure: Dr. Brooks has received personal compensation for activities with Biogen Idec, Avanir Pharmaceuticals, Acorda Therapeutics, Cytoki...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Brooks, B., Kandinov, B., Langford, V., Lindblom, S., Sanjak, M., Wright, K., Ward, A., Holsten, S., Fischer, M., Lucas, N., Smith, N., Nichols, M., Lary, C., Nemeth, J., Russo, P., Bockenek, W., Bravver, E., Desai, U., Story, J. S., Pacicco, T. Tags: ALS: Trials and Biomarkers Source Type: research

Eighteen Month Experience with Diaphragmatic Pacing in ALS: Outcomes, Efficacy and Adversities (P4.081)
CONCLUSIONS:DPS has been successfully implanted in 36 patients. Whether the pacemaker has improved respiratory function, quality of life, or life span will require controlled studies. However this study will provide a glimpse at the effects of placement in a cohort of patientsStudy Supported by:Disclosure: Dr. Allred has nothing to disclose. Dr. Baloh has received license fee payments from Genentech, Inc. Dr. Elsayegh has nothing to disclose. Dr. Tsimerinov has nothing to disclose. Dr. Muthukumaran has nothing to disclose. Dr. Shah has nothing to disclose. Dr. Lewis has received personal compensation for activities with Ba...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Allred, M., Baloh, R., Elsayegh, A., Tsimerinov, E., Muthukumaran, A., Shah, A., Lewis, R. Tags: ALS: Trials and Biomarkers Source Type: research

Effects Of Cough Augmentation On Pulmonary Morbidity, Survival, And Quality Of Life In Patients With Amyotrophic Lateral Sclerosis In Respiratory Failure: A Randomised Trial (P4.082)
CONCLUSIONS: There was no significant difference in the two groups. A trend of fewer chest infections and longer survival was observed in the breath-stacking group while duration of antibiotics use and chance of hospitalization in the event of a chest infection tended to be reduced in the MI-E group. We suggest breath-stacking technique may be prescribed for domiciliary use with the onset of respiratory failure. MI-E may be useful in the event of a chest infection when it is likely to reduce the duration of antibiotic use and chance of hospitalisation.Study Supported by: Motor Neurone Disease Association, UKDisclosure: Dr....
Source: Neurology - April 9, 2014 Category: Neurology Authors: Rafiq, M., Bradburn, M., Proctor, A., McDermott, C., Shaw, P. Tags: ALS: Trials and Biomarkers Source Type: research

Phrenic Nerve Conduction Studies as a Biomarker of Respiratory Insufficiency in ALS (P4.083)
CONCLUSIONS:The phrenic NCS correlated closely with multiple symptoms, signs, and laboratory measures of respiratory insufficiency in ALS. This objective test appears promising as a biomarker of diaphragm dysfunction in patients with ALS, and may aid with clinical trials, decision-making regarding non-invasive ventilation, and patient selection for DPS. Disclosure: Dr. Jenkins has nothing to disclose. Dr. Sakamuri has nothing to disclose. Dr. Katz has received personal compensation for activities with Blue Cross and Griffols. Dr. Katz has received research support from Cytokinetics. Dr. Forshew has received pers...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Jenkins, L., Sakamuri, S., Katz, J., Forshew, D., Guion, L., Moore, D., Miller, R. Tags: ALS: Trials and Biomarkers Source Type: research

Excessive Daytime Sleepiness Does Not Predict The Degree Of Sleep Disordered Breathing In ALS: An Autonomic Dysfunction Matrix (P4.089)
CONCLUSIONS:In ALS patients with SDB, degree of subjective daytime sleepiness is not related to degree of AHI/SDB. This can be secondary to dysfunction of central adrenergic alerting mechanisms. Lack of daytime hypersomnolence can be explained by autonomic dysfunction in ALS.Further studies to look at autonomic function testing should be considered in ALS patientsDisclosure: Dr. Desai has received personal compensation for activities with Purdue Pharma and UCB Pharma as a speaker. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Desai, U. Tags: Anterior Horn Cell Disease: Biomarkers Source Type: research

Chronological Changes in Cardiac Sympathetic Function in Patients with Ayotrophic Lateral Sclerosis: An Analysis Using Cardiac I-123-MIBG Scintigraphy (P4.090)
CONCLUSIONS: These results suggested that some patients with ALS at diagnosis have cardiac sympathetic hyperactivity and the percentage of ALS patients with cardiac sympathetic hyperactivity increase gradually. These patients may experience chronic cardiac sympathetic hyperactivity, which is associated with sudden cardiac death and stress-induced cardiomyopathy. Increased WR in cardiac I-123-MIBG scintigraphy at the time of diagnosis may be a predictive factor in patients with ALS.Disclosure: Dr. Tanaka has nothing to disclose. Dr. Yamada has nothing to disclose. Dr. Koumura has nothing to disclose. Dr. Hayashi has nothing...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Tanaka, Y., Yamada, M., Koumura, A., Hayashi, Y., Kimura, A., Inuzuka, T. Tags: Anterior Horn Cell Disease: Biomarkers Source Type: research

Subscales of the ALS Functional Rating Scale (ALSFRS-R) as Determinants of Survival in Amyotrophic Lateral Sclerosis (ALS) (P4.094)
CONCLUSIONS: Consistent with previous literature, older age, shorter time from onset to baseline evaluation and decreased BMI are significantly associated with poor prognosis. Our novel finding suggests that individual ALSFRS-R subscales for speech, turning in bed and dyspnea significantly predict survival over and above ALSFRS-R total scores and known demographic predictors of survival for ALS.Study Supported by: Grants AG17586, NS44266, P50-AG016574, P01-AG019724, P50-AG023501, CA DHS 07-65807Disclosure: Dr. Xie has nothing to disclose. Dr. Boller has nothing to disclose. Dr. Han has nothing to disclose. Dr. McCluskey ha...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Rascovsky, K., Xie, S., Boller, A., Han, X., McCluskey, L., Elman, L., Grossman, M. Tags: Anterior Horn Cell Disease: Biomarkers Source Type: research

Cognitive Impairment (CI) in Amyotrophic Lateral Sclerosis (ALS): A Clinical Based Study (P4.204)
CONCLUSIONS:In our study, 64 % of ALS patients had CI. FTD occurred in 8 % of the sample. Executive unidomain dysfunction was the most common cognitive profile. Bulbar onset was more likely to develop cognitive dysfunction, coincidentally with previous reports.Disclosure: Dr. Chaves has nothing to disclose. Dr. Garcia Basalo has nothing to disclose. Dr. Bettini has nothing to disclose. Dr. Fernandez has nothing to disclose. Dr. Cristiano has received personal compensation for activities with Bayer Pharmaceuticals Corp., Biogen Idec, Merck & Co., Inc., and Novartis, Dr. Rugiero has nothing to disclose. Dr. Golimstok has...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Chaves, M., Garcia Basalo, M., Bettini, M., Fernandez, M., Cristiano, E., Rugiero, M. F., Golimstok, A. Tags: Aging, Dementia, and Cognitive and Behavioral Neurology: Frontotemporal Lobar Degeneration Source Type: research

Intravenous versus Non-intravenous Benzodiazepines for the Treatment of Status Epilepticus: A Systematic Review and Meta-analysis (P4.249)
Conclusions: Non-IV benzodiazepines (IN & IM) are as effective and safe as IV benzodiazepines for the treatment of SE. Limited randomized controlled trials (RCT) data are available for buccal route. No RCT compared PR route to IV route.Disclosure: Dr. Abulaban has nothing to disclose. Dr. Alshehri has nothing to disclose. Dr. Kojan has received personal compensation for activities with Janssen-Cilag as a speaker, and with Merck Serono, Novartis, and Bayer Schering. Dr. Kojan has received research support from Novartis. Dr. Bokhari has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Abulaban, A., Alshehri, A., Kojan, S., Bokhari, R. Tags: Epilepsy and Clinical Neurophysiology (EEG): Status Epilepticus Source Type: research

Benzodiazepine Administration for Seizure Emergencies: A Review (P4.250)
CONCLUSION:Emerging benzodiazepine administration methods appear to offer a rapid and convenient alternative to IV or rectal routes. The literature supports that these methods are safe and effective alternative routes of benzodiazepine administration for rapid treatment of seizures in children and adults. Disclosure: Dr. Haut has received personal compensation for activities with Upsher Smith, Acorda, and Impax. Dr. Seinfeld has nothing to disclose. Dr. Pellock has received personal compensation for activities with the National Institutes of Health, Acorda Therapeutics, Catalyst, Eisai Inc., GlaxoSmithKline Inc., King Phar...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Haut, S., Seinfeld, S., Pellock, J. Tags: Epilepsy and Clinical Neurophysiology (EEG): Status Epilepticus Source Type: research

Unplanned Transfers to a Neurological Intensive Care Unit (P4.276)
CONCLUSIONS: Unexpected transfers to the NICU were mostly due to new or worsening neurological problems and often occurred within hours of admission to floor services. Given the mortality associated with unexpected transfer to the NICU, future quality improvement efforts are warranted to evaluate methods for triage of patients with neurological illness.Disclosure: Dr. Gold has nothing to disclose. Dr. Mayer has received personal compensation for activities with Actelion, Baxter, Biogen Idec, Codman/Johnson & Johnson Company, CSL Behring, Cornerstone Therapeutics, CR Bard, Novartis, Orsan Technologies, Pfizer Inc, Sage ...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Gold, C., Mayer, S., Lennihan, L., Willey, J. Tags: Practice, Policy, and Ethics: Training and Common Practices in Neurology Source Type: research

Re-evaluating Brain Death: The Potential for Treatment and Recovery after Brain Injury (P4.285)
Conclusions: Treatment-induced reversal of BD was evidenced by functional recovery across several domains. ACP neuromodulation optimizes cerebral functioning: electrical stimulation increases metabolic coupling; nutraceuticals promote healing, repair and neurotransmitter production while attenuating inflammatory cascades and free-radical damage. BD may not be definitively irreversible and deserves therapeutic consideration.Disclosure: Dr. Defina has nothing to disclose. Dr. Zakrzewski has nothing to disclose. Dr. Prestigiacomo has nothing to disclose. Dr. Machado has nothing to disclose. Dr. Bernad has nothing to disclose....
Source: Neurology - April 9, 2014 Category: Neurology Authors: Defina, P., Zakrzewski, C., Prestigiacomo, C., Machado, C., Bernad, P., Halper, J., Fellus, J. Tags: Practice, Policy, and Ethics: Stroke, Critical Care, and Other Source Type: research

Eastern Equine Encephalitis in a Patient Treated with Rituximab: Clinical Presentation and Histopathology (P4.316)
Conclusion: Patients on rituximab with EEE may have minimal MRI findings despite severe neurological deficits. Additionally, EEE default testing is EIA. If immunocompromised, PCR testing should be obtained. This patient had extensive spinal involvement with a robust T cell response. We hypothesize that viral clearance was impaired allowing for viral spread and a heightened T cell mediated inflammatory response. This case highlights the severe clinical presentation and unique pathology associated with neuroinvasive EEE infection in the setting of B-cell depletion due to rituximab.Disclosure: Dr. Ciarlini has nothing to disc...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Mukerji, S., Ciarlini, P., Santagata, S., De Girolami, U., Prasad, S. Tags: Viral Encephalitis and Progressive Multifocal Leukoencephalopathy Source Type: research

Hemophagocytic Lymphohystiocytosis Associated with Encephalitis: Two Case Reports (P5.031)
CONCLUSIONS:Both patients presented with encephalitis, fever, pancytopenia, and developed multi-organ failure; bone marrow biopsies were consistent with HLH. These cases suggest an association between idiopathic encephalitis and HLH with systemic involvement. HLH is a life-threatening disease, and in patients with a clinical diagnosis of encephalitis and evidence of multi-organ (especially bone marrow) failure, a bone marrow biopsy should be obtained for early diagnosis.Disclosure: Dr. Sheth has nothing to disclose. Dr. Meyers has nothing to disclose. Dr. Jongeling has nothing to disclose. Dr. Mayer has received personal c...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Sheth, S., Meyers, E., Jongeling, A., Mayer, S., Agarwal, S., Claassen, J., Gold, C. A., Foreman, B. Tags: General Neurology IV Source Type: research

Sociodemographic and Health Related Profile of Adults with Duchenne/Becker Muscular Dystrophy (DBMD): Data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) (P5.090)
CONCLUSIONS: Our population based data describe an emerging population of adults with DBMD. This sociodemographic and health related profile provides information for providers, payors and policy makers to help design the appropriate care models to meet the needs of adults with DBMD and their families.Study Supported by: Centers for Disease Control and PreventionCDC 5UO1DD00019004Disclosure: Ms. Pandya has received personal compensation for activities with Shire Pharmaceuticals as a consultant. Dr. Kumar has nothing to disclose. Dr. James has nothing to disclose. Dr. Westfield has nothing to disclose. Dr. Ciafaloni has noth...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Pandya, S., Kumar, A., James, K., Westfield, C., Ciafaloni, E., Cunniff, C., Romitti, P., Moxley, R. Tags: Muscular Dystrophies Source Type: research

A Novel Heterozygous L1453P Mutation in the MYH7 Gene Resulting in Laing Distal Myopathy in an Irish Family (P5.094)
CONCLUSIONS: Mutations in MYH7 cause severe and progressive myopathy, and may also exhibit an expanded phenotype including myopathy, brain white matter lesions and epilepsy.Disclosure: Dr. Lefter has received personal compensation for activities with Muscular Dystrophy Ireland. Dr. Lefter has received research support from Genzyme Corp. Dr. Hardiman has received personal compensation for activities with Ono Pharmaceuticals, Sanofi-Aventis Pharmaceuticals Inc., Biogen Idec, Merck Serono, and Schering AG. Dr. Hardiman has received personal compensation in an editorial capacity for ALS Journal. Dr. McLaughlin has nothing to d...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Lefter, S., Hardiman, O., McLaughlin, R., Murphy, S., Farrell, M., Ryan, A. Tags: Muscular Dystrophies Source Type: research

A Novel Form of Nemaline Myopathy Caused by an In-Frame Deletion in TNNT1 (P5.095)
CONCLUSIONS:This novel deletion in TNNT1 represents a new cause of nemaline myopathy. Unlike ANM, it results in a more benign, "typical congenital" NM phenotype, and is unrelated to Amish ancestry. The nonsense mutation described in ANM results in a truncated TnT gene product, absence of TnT from slow skeletal muscle fibers, and progressive weakness with death in childhood. In contrast, the deletion we describe results in an abnormal TnT protein due to an in-frame deletion, and a less severe NM phenotype. This finding demonstrates that TNNT1 mutations should be sought in patients with less severe forms of NM, and in subjec...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Sakamuri, S., Siskind, C., Watson, K., Winder, T., Vogel, H., Day, J. Tags: Muscular Dystrophies Source Type: research

Immunotherapy for Respiratory Complications of Sporadic Late Onset Nemaline Myopathy (SLONM) with Monoclonal Gammopathy (P5.098)
CONCLUSIONIn conclusion, the case we describe suggest that IVIG and steroids may be beneficial in the acute treatment of SLONM with MGUS and may improve functional respiratory status. Despite previous reports in which the association with monoclonal gammopathy has been related to a poor prognosis, this case illustrates that some patients may improve despite overall poor prognosis.Disclosure: Dr. Rosales has nothing to disclose. Dr. Varosanec has nothing to disclose. Dr. Lugo has nothing to disclose. Dr. Prayson has nothing to disclose. Dr. Rahmlow has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Rosales, N., Varosanec, M., Lugo, R., Prayson, R., Rahmlow, M. Tags: Muscular Dystrophies Source Type: research

Electrophysiological Findings in Acute Solanum Torvum Toxicity (P5.103)
CONCLUSIONS:Acute intoxication with poisonous Solanum torvum berries appears to cause a toxic myopathy. The chemical directly responsible remains unknown, however, is likely of the class of solanaceous steroidal glycoalkaloids.Study Supported by: NoneDisclosure: Dr. Glover has nothing to disclose. Dr. Patterson has nothing to disclose. Dr. Connors has nothing to disclose. Dr. Smith has nothing to disclose. Dr. Milstein has nothing to disclose. Dr. Swerdlow has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Glover, R., Patterson, D., Connors, N., Smith, S., Milstein, M., Swerdlow, M. Tags: Neurophysiology/EMG Source Type: research

Cervico-Dorsal Intramedullary Hematoma in a Patient with Pompe Disease (P5.133)
CONCLUSIONS: Late onset Pompe disease may be associated with spontaneous cerebral hemorrhages even in the absence of typical cardiovascular risk factors. These patients may have glycogen deposits in the tunica media of arteriolar walls, with vacuolar degeneration and formation of microaneurysms that predisposes spontaneous cerebral hemorrhage . While basilar dolichoectasia and vascular malformations in the posterior territory are described as an association to hemorrhagic lesions in this population, in our case, this was ruled out by a digital angiography. There are numerous reports of brain intraparenchymal hematomas asso...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Nadile, D., Gonzalez Toledo, M., Tamargo, A., Pagani Cassara, F., Thomson, A., Munoz, F., Klein, F. Tags: Cerebrovascular Disease and Interventional Neurology: Intracerebral Hemorrhage and Other Hemorrhages Source Type: research

A Rare Autoimmune Encephalitis - Due to Dipeptidyl-Peptidase-Like Protein-6 (DPPX) Autoantibody; A Case Report (P5.169)
CONCLUSIONS:Until recently many cases of autoimmune encephalitis would previously been labled as idiopathic. Here we provide description of the fifth known case of DPPX-antibody encephalitis. Our patient appears to have responded more rapidly to treatment compared to the 4 cases recently reported1 due to the earlier diagnosis and treatment.1Boronat A. Encephalitis and antibodies to dipeptidyl-peptidase-like protein 6, a subunit of Kv4.2 potassium channels. Annals of Neurology 2013;73:120-128.Disclosure: Dr. Suchecki has nothing to disclose. Dr. Risley has nothing to disclose. Dr. Zimmerman has received personal compensatio...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Suchecki, S., Risley, L., Zimmerman, E., Molho, E., Hanspal, E., Dalmau, J. Tags: CNS Diseases and Differential Diagnosis Source Type: research

Acute Disseminated Encephalomyelitis Following an Acute JC Virus Infection (P5.185)
CONCLUSIONS: This case demonstrates the rapid and dramatic neurologic deficits, along with radiologic and laboratory data, that are attributable to ADEM following an acute JC virus infection. Identifying a potential link between the JC virus and ADEM could provide clues to a quicker diagnosis of ADEM, as well as its causative agent.Disclosure: Dr. Rogers has nothing to disclose. Dr. Falconer has nothing to disclose. Dr. Torres-Yaghi has nothing to disclose. Dr. Boynton has nothing to disclose. Dr. Sonne has nothing to disclose. Dr. Mora has received personal compensation for activities with Teva Neuroscience as a member of...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Rogers, S., Falconer, R., Torres-Yaghi, Y., Boynton, H., Sonne, C., Mora, C., Tornatore, C. Tags: CNS Diseases and Differential Diagnosis Source Type: research

Mutational Analysis of COQ2 in Italian Patients with MSA (P5.249)
CONCLUSIONS: Overall, these findings support the hypothesis that COQ2 variants may represent a rare but relevant cause of MSA even in the Italian population. Further studies are required to address the role of COQ2 and CoQ10 availability in MSA.Disclosure: Dr. Ronchi has nothing to disclose. Dr. Bonato has nothing to disclose. Dr. Di Biase has nothing to disclose. Dr. Melzi has nothing to disclose. Dr. Trezzi has nothing to disclose. Dr. Corti has nothing to disclose. Dr. Bresolin has nothing to disclose. Dr. Comi has nothing to disclose. Dr. Di Fonzo has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Ronchi, D., Bonato, S., Di Biase, E., Melzi, V., Trezzi, I., Corti, S., Bresolin, N., Comi, G., Di Fonzo, A. Tags: Movement Disorders: Atypical Parkinsonism Source Type: research

Hypercapnic Respiratory Failure Is Often Seen In Advanced Progressive Supranuclear Palsy (P5.250)
CONCLUSIONS:Here, we show the first evidence that hypercapnic respiratory failure is often seen in patients with advanced PSP. Therefore, such hypercapnic conditions might be a common clinical feature in cases of advanced PSP. Although respiratory complications might have some influence, these reports may reflect the existence of central hypoventilation in advanced cases of PSP.Study Supported by:Rare/Intractable Disease Project of Japanese Ministry of Health, Labour and Welfare.Disclosure: Dr. Komai has nothing to disclose. Dr. Ishida has nothing to disclose. Dr. Takahashi has nothing to disclose. Dr. Tagami has nothing t...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Komai, N., Ishida, C., Takahashi, K., Tagami, A. Tags: Movement Disorders: Atypical Parkinsonism Source Type: research

Hyperactivity And Obsessive Compulsive Disorder: An Unusual Presentation In Perry Syndrome. A Clinicopathological Study. (P5.272)
CONCLUSIONS: In Perry syndrome psychiatric symptoms with hyperactivity and compulsive behavior can be observed. There were no pathological differences between the unusual phenotype and the classic presentation.Disclosure: Dr. Lamotte has nothing to disclose. Dr. Chapon has nothing to disclose. Dr. Defer has received personal compensation for activities with Biogen Idec, Novartis, Genzyme Corp., Teva Neuroscience, Merck Serono, Guerbet, and Sanofi-Aventis Pharmaceuticals, Inc. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Lamotte, G., Chapon, F., Defer, G. Tags: Movement Disorders: Sleep and Movement Disorders and Miscellaneous Diagnoses Source Type: research

Frequency and Causes of Discontinuation of Continuous Positive Airway Pressure Treatment in Multiple System Atrophy (P5.276)
CONCLUSIONS:The median duration of CPAP treatment was 13 months. CPAP treatment was discontinued due to pulmonary infection, respiratory failure, CPAP intolerance, and floppy epiglottis.Disclosure: Dr. Nakayama has nothing to disclose. Dr. Nishizawa has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Shimohata, T., Nakayama, H., Nishizawa, M. Tags: Sleep: Sleep Related Breathing Source Type: research

Respiratory Safety of the Orexin Receptor Antagonist Suvorexant during Sleep In Patients with Compromised Respiratory Function and in Healthy Subjects (P5.293)
CONCLUSIONS: Overall, these data indicate a lack of important respiratory effects at suvorexant doses effective for treating insomnia. To date, there is no clinical experience with suvorexant in patients with severe COPD or OSA.Study Supported by: MerckDisclosure: Dr. Troyer has received personal compensation for activities with Merck & Co., Inc. as an employee. Dr. Troyer holds stock and/or stock options in Merck & Co. Inc., which sponsored research in which Dr. Troyer was involved as an investigator. Dr. Uemura has received personal compensation for activities with Merck & Co. Inc., as an employee. Dr. Uemera...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Troyer, M., Uemura, N., McCrea, J., Palcza, J., Donikyan, M., Zammit, G., Liu, R., Siringhaus, T., Rowe, J., Card, D., Marsilio, S., Grant, T., Rosenberg, R., Wagner, J., Sun, H. Tags: Sleep: Intrinsic Disorders of Sleep Source Type: research

Polysomnographic Findings In Machado-Joseph Disease: Evaluation Of 47 Patients (P6.045)
CONCLUSIONS: This data demonstrates a high frequency of sleep disorders in MJD evaluated through PSG. Study Supported by: Not applicableDisclosure: Dr. Pedroso has nothing to disclose. Dr. Santos has nothing to disclose. Dr. Prado has nothing to disclose. Dr. Prado has nothing to disclose. Dr. Carvalho has nothing to disclose. Dr. Braga-Neto has nothing to disclose. Dr. Barsottini has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Pedroso, J. L., Santos, D., Prado, G., Prado, L., Carvalho, L., Braga-Neto, P., Barsottini, O. Tags: Movement Disorders: Spinocerebellar Ataxias Source Type: research

Cerebellar Ataxia with CoQ10 Deficiency Due to a Novel Mutation in ADCK3 (P6.057)
CONCLUSIONS: Molecular diagnosis of cerebellar ataxic syndromes represent a challenge for the neurologist. COQ10 deficiency in muscle need to be investigated when the other most common causes of recessive ataxias has been excluded, becaouse potentially treatable.Disclosure: Dr. Barca has nothing to disclose. Dr. Musumeci has nothing to disclose. Dr. Peverelli has nothing to disclose. Dr. Ciranni has nothing to disclose. Dr. DiMauro has received personal compensation in an editorial capacity for MedLink Neurology. Dr. Hirano has received personal compensation for activities with Athena Diagnostics. Dr. Hirano has received p...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Barca, E., Musumeci, O., Peverelli, L., Ciranni, A., DiMauro, S., Hirano, M., Quinzii, C. M., Toscano, A. Tags: Movement Disorders: Miscellaneous Ataxias Source Type: research

Spinocerebellar Ataxias with Hypogonadism: Unraveling a Novel Group of Inherited Neurometabolic Disorders (P6.061)
CONCLUSIONS: The association between cerebellar ataxia and hypogonadism comprise heterogenous entities. Screening for CDG and Coq10 deficiency should be done in such patients as a part of the work-up investigation. Identification of the molecular basis of BNS widens our comprehension of this rare group of the disorders,with involvement of glycosphingolipids metabolism in its physiopathology.Disclosure: Dr. Lourenco has nothing to disclose. Dr. Sobreira has nothing to disclose. Dr. Giugliani has nothing to disclose. Dr. Zuchner has received license fee payments from Athena Diagnostics. Dr. Marques, Jr. has nothing to disclo...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Lourenco, C., Sobreira, C., Giugliani, R., Zuchner, S., Marques, W. Tags: Movement Disorders: Miscellaneous Ataxias Source Type: research

Blood Pressure Dipping During The Deep Breathing Maneuver (BPDB) While Supine May Be A Marker Of Severe Sympathetic Denervation (P6.090)
CONCLUSIONS: BP dipping during the deep breathing maneuver indicates advanced sympathetic dysfunction. Study Supported by: N/ADisclosure: Dr. Barboi has nothing to disclose. Dr. Cadell has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Barboi, A., Cadell, V. Tags: Neuropathy: Imaging and Biomarkers Source Type: research

Subacute Onset of Severe Cidp Weakness Associated With Tumor-Like Nerve Root Involvement: A Case Report (P6.092)
CONCLUSIONS: Rapid onset with fulminant progression of limb muscle weakness without respiratory compromise and associated tumor-like enlargement of cervical and lumbosacral nerve roots is unusual presentation of CIDP. Other inflammatory, infectious and neoplastic processes need to be eliminated. Continuous immune and supportive therapies are required to secure the best functional outcome.Disclosure: Dr. Stoll has nothing to disclose. Dr. Rakocevic has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Stoll, S., Rakocevic, G. Tags: Neuropathy: Imaging and Biomarkers Source Type: research

Generalized Dilative Arteriopathy without Myopathy: A New Phenotype of Pompe Disease (P6.256)
Conclusion. This case demonstrates that LOPD may present as an isolated generalized dilative arteriopathy with repeated kidney and brain infarcts, and no myopathy. Pompe disease should be systematically screened in patients with generalized dilative arteriopathy.Disclosure: Dr. Echaniz-Laguna has received personal compensation for activities with Sanofi-Aventis Pharmaceuticals, Inc. Dr. Bataillard has nothing to disclose. Dr. Quenardelle has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Echaniz-Laguna, A., Bataillard, M., Quenardelle, V. Tags: Cerebrovascular Disease and Interventional Neurology: Case Reports Source Type: research

Defective Muscle Mitochondrial Biogenesis in Spinal Muscular Atrophy. (P7.004)
DISCUSSION: Here we demonstrate that mitochondrial content and PGC-1a expression are significantly reduced in SMA muscles. Therapeutic strategies aiming to counteract these changes might reveal beneficial for SMA patients.Disclosure: Dr. Ronchi has nothing to disclose. Dr. Ripolone has nothing to disclose. Dr. Barca has nothing to disclose. Dr. Berardinelli has nothing to disclose. Dr. Morandi has nothing to disclose. Dr. Mora has nothing to disclose. Dr. Bordoni has nothing to disclose. Dr. Fortunato has nothing to disclose. Dr. Fagiolari has nothing to disclose. Dr. Violano has nothing to disclose. Dr. Vallejo has nothin...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Ronchi, D., Ripolone, M., Barca, E., Berardinelli, A., Morandi, L., Mora, M., Bordoni, A., Fortunato, F., Fagiolari, G., Violano, R., Vallejo, D., Corti, S., Toscano, A., Sciacco, M., DiMauro, S., Comi, G., Moggio, M. Tags: Neuromuscular and Clinical Neurophysiology (EMG) II Source Type: research

The Diagnostic Value Of Diffusion Tensor MRI Metrics In Relation To The MND Phenotype Heterogeneity (P7.007)
CONCLUSIONS: DT MRI provides sensitive objective measures of UMN and extra-motor burden at the individual level in MND patients, including those at the early phase of the disease. This study provides a roadmap for translation of MRI predictors of MND into daily practice.Study Supported by: Italian Ministry of Health (#RF-2010-2313220).Disclosure: Dr. Spinelli has nothing to disclose. Dr. Agosta has received personal compensation for activities with Bayer Pharmaceuticals Corporation, Biogen Idec, Sanofi-Aventis Pharmaceuticals Inc., and Serono Symposia International Foundation. Dr. Agosta has received personal compensation ...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Spinelli, E., Agosta, F., Riva, N., Copetti, M., Galantucci, S., Chio, A., Messina, S., Iannaccone, S., Calvo, A., Silani, V., Falini, A., Comi, G., Filippi, M. Tags: Neuromuscular and Clinical Neurophysiology (EMG) II Source Type: research

When the Typical Becomes Atypical: Anti-Ri Antibody Associated Paraneoplastic Syndrome WITHOUT Opsoclonus-Myoclonus (P7.024)
OBJECTIVE: To illustrate a case of anti-Ri-associated paraneoplastic neurologic syndrome without its "classic" opsoclonus-myoclonus.BACKGROUND: Paraneoplastic neurologic syndromes cause significant morbidity and mortality. Its heterogeneous clinical presentations are underrecognized, delaying diagnosis and treatment.DESIGN/METHODS: A 64-year-old man noted fatigue, diplopia and left eyelid ptosis. Three months later he developed generalized weakness, dysarthria, dysphagia and respiratory failure. He had smoked cigarettes for 40 years. Examination demonstrated lethargy, tongue myoclonus, bilateral horizontal gaze palsy and p...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Velazquez-Rodriguez, Y., Kaur, D., Ahmed, A. Tags: General Neurology VII Source Type: research

Refractory IgG4-Related Intracranial Hypertrophic Pachymeningitis (P7.029)
CONCLUSIONS: This case highlights a refractory IgG4-related intracranial-HP. Rituximab has been initiated.Disclosure: Dr. Liao has nothing to disclose. Dr. Kamiya Matsuoka has nothing to disclose. Dr. Fang has nothing to disclose. Dr. Smith has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Liao, B., Kamiya Matsuoka, C., Fang, X., Smith, R. Tags: General Neurology VII Source Type: research

Case Report of Weston Hurst Syndrome (P7.031)
CONCLUSIONS:The results thoroughly illustrate a severe post-infectious autoimmune reaction of a yet to be identified antigenic trigger leading to immune-complex deposition in walls of arterioles and venules which activates compliments and leads to vessel wall necrosis. The associated perivascular edema and/or demyelination ultimately led to death of the patient. The autopsy results confirmed lung infection and myocarditis. Given cold agglutinins were positive and the results of CXR showed atypical pneumonia, certainly mycoplasma pneumoniae is strongly suggested as the infectious cause in this case. This is the first case r...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Magun, R., Provias, J. Tags: General Neurology VII Source Type: research

Profile of Medical Care Costs in Patients with Amyotrophic Lateral Sclerosis in Medicare Program and under Commercial Insurance (P7.102)
DISCUSSIONS: The detailed monthly cost patterns from both programs as well as the transition from commercial insurance to Medicare program will be further studied. These results will be used to guide rigorous estimation of the economic burden associated with disability milestones in ALS medical care.Disclosure: Dr. Meng has received personal compensation for activities with Cytokinetics, Inc. as an employee. Dr. Jordan has received personal compensation for activities with Cytokinetics, Inc. as an employee. Dr. Bian has received personal compensation for activities with Cytokinetics, Inc. as an employee. Dr. Andrews has re...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Meng, L., Jordan, S., Bian, A., Andrews, J., Shefner, J., Wolff, A., Blumen, H., Iwasaki, K., Pyenson, B. Tags: Neuromuscular Health Services/Outcomes Research Source Type: research

Incidence of Adverse Events with MAP0004 Does Not Increase with Increased Frequency of Dosing: Results from a Long-Term Phase 3 Study (P7.184)
CONCLUSIONS: In this post-hoc analysis, repeated administration of up to 6 MAP0004 doses/month resulted in no increased incidence of drug-related AEs versus administration of 1 or 2 doses/month.Study Supported by: Allergan, Inc.Disclosure: Dr. Winner has received personal compensation for activities with Allergan Inc., Zogenix, and Novartis as a speaker. Dr. Winner holds stock and/or stock options in MAP Pharmaceuticals, which sponsored research in which Dr. Winner was involved as an investigator. Dr. Winner has received research support from GlaxoSmithKline Inc., MAP Pharmaceuticals, Allergan Inc., Pfizer Inc., and Novart...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Winner, P., Lucas, S., Lu, B., Connors, E., Freitag, F., Kori, S. Tags: Headache: Treatment Source Type: research

Treatment Satisfaction After Switching To Fingolimod Directly From An Injectable Therapy (P7.218)
CONCLUSIONS:Patient-reported treatment satisfaction improved significantly in patients who switched from iDMT to fingolimod, compared with those who continued iDMT.Study Supported by:Novartis Pharmaceuticals Corporation.Disclosure: Dr. Fox has received personal compensation for activities with Bayer Pharmaceuticals Corp., Biogen Idec, EMD Serono, Genzyme Corp., Novartis, Opexa Therapeutics, and Teva Neuroscience. Dr. Fox has received research support from Biogen Idec, Eli Lilly & Co., EMD Serono, Genzyme Corp., GlaxoSmithKline Inc., Novartis, Ono Pharmaceutical, Roche Diagnostics Corp., Sanofi-Aventis Pharmaceuticals I...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Fox, E., Edwards, K., Burch, J., McCague, K., Barbato, L. Tags: Multiple Sclerosis and CNS Inflammatory Diseases: Treatment Source Type: research

Deep Brain Stimulation for the Management of Seizures in MECP2 Duplication Syndrome. (P7.280)
CONCLUSIONS: MECP2-dup is a condition rarely seen/diagnosed in adults. Almost 40% of all boys with MECP2-dup that were reported until 2009 died before completing 25 years of age. This case shows that cognitive and motor dysfunction continue to deteriorate as patients age. It also shows that seizures may be extremely difficult to treat and DBS may improve seizure control. As opposed to some other genetically determined severe epilepsies such as Dravet syndrome, seizure frequency and severity do not improve in adulthood.Disclosure: Dr. Nascimento has nothing to disclose. Dr. Faghfoury has nothing to disclose. Dr. Krings has ...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Nascimento, F., Faghfoury, H., Krings, T., Ali, A., Fridhandler, J., Lozano, A., Wennberg, R., Andrade, D. Tags: Epilepsy and Clinical Neurophysiology (EEG): Surgery and Neurostimulation Source Type: research

A Novel SUCLA2 Mutation Associated with a Complex Childhood Movements Disorder (P7.321)
CONCLUSIONS: Our finding suggests the importance of investigating mitochondrial function in patients with complex movement disorders without brain MRI lesion. Moreover, CoQ10 deficiency should be investigated in patients with SUCLA2 mutations, because our patient responded to CoQ10 supplementation .Disclosure: Dr. Garone has nothing to disclose. Dr. Gurgel-Giannetti has nothing to disclose. Dr. Sanna-Cherchi has nothing to disclose. Dr. Krishna has nothing to disclose. Dr. Naini has nothing to disclose. Dr. Quinzii has nothing to disclose. Dr. Hirano has received personal compensation for activities with Athena Diagnostics...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Garone, C., Gurgel-Giannetti, J., Sanna-Cherchi, S., Krishna, S., Naini, A., Quinzii, C. M., Hirano, M. Tags: Child Neurology and Developmental Neurology VI Source Type: research

Sideroflexin-4 Defects Cause A New Infantile Mitochondrial Disorder Affecting Hematopoietic And Central Nervous Systems. (P7.328)
CONCLUSION: Defective sideroflexin-4 causes a new infantile mitochondrial syndrome linking neurological and hematopoietic symptoms.Disclosure: Dr. Garone has nothing to disclose. Dr. Hildick-Smith has nothing to disclose. Dr. Cooney has nothing to disclose. Dr. Kremer has nothing to disclose. Dr. Haack has nothing to disclose. Dr. Thon has nothing to disclose. Dr. Miyata has nothing to disclose. Dr. Lieber has nothing to disclose. Dr. Calvo has nothing to disclose. Dr. Akman has nothing to disclose. Dr. Yen has nothing to disclose. Dr. Huston has nothing to disclose. Dr. Branco has nothing to disclose. Dr. Shah has nothing...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Garone, C., Hildick-Smith, G. J., Cooney, J. D., Kremer, L. S., Haack, T. B., Thon, J. N., Miyata, N., Lieber, D., Calvo, S., Akman, O. H., Yen, Y. Y., Huston, N. C., Branco, D. S., Shah, D. I., Freedman, M. L., Koehler, C. M., Italiano, J. E., Merkenschl Tags: Child Neurology and Developmental Neurology VI Source Type: research