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The Utility of Factor VIII Infusion in a Rare Case of SHAM Syndrome (P4.343)
Conclusions: Genetic testing confirmed the presence of SHAM syndrome with an 83 kb deletion involving both F8 and BRCC3 genes responsible for severe hemophilia and Moyamoya disease respectively. This case illustrates the first phenotypically and genetically confirmed adult case of SHAM syndrome with intracerebral hemorrhage and highlights the utility/safety of factor VIII infusion in this case.Disclosure: Dr. Roh has nothing to disclose. Dr. Roth has nothing to disclose. Dr. Al-Mufti has nothing to disclose. Dr. Chung has nothing to disclose. Dr. Connolly has nothing to disclose. Dr. Eisenberger has nothing to disclose. Dr...
Source: Neurology - April 3, 2016 Category: Neurology Authors: Roh, D., Roth, W., Al-Mufti, F., Chung, W., E. Sander, C., Eisenberger, A., Park, S., Claassen, J., Agarwal, S. Tags: Cerebrovascular Case Reports Source Type: research

Title: Neuropsychological Functions In People with Juvenile Myoclonic Epilepsy-A Hospital Based Study (P6.211)
Conclusions:1) People with JME (With normal IQ) performed significantly poor as compared to controls on detailed Neuropsychological assessment. 2) Psychological performance significantly correlated with education level, however no correlation was found between duration of epilepsy or duration of treatment.Disclosure: Dr. Bala has nothing to disclose. Dr. Singhal has received personal compensation for activities with Medicolegal as an expert witness and ACTION Trial Stroke Advisory Board and Biogen as a consultant. Dr. Singhal holds stock and/or stock options in Biogen Idec. Dr. Singhal has received re Dr. Sharma has nothing to disclose.
Source: Neurology - April 3, 2016 Category: Neurology Authors: Bala, K., Singla, P., Sharma, V. Tags: Behavioral and Cognitive Neurology: Clinical Syndromes Source Type: research

CSF biomarkers suggest a strong role of glial inflammation in the pathogenesis of frontotemporal dementia (P6.104)
Conclusions:FTD features increased YKL-40, sTREM2 and NfL, a profile that distinguishes it from controls and AD. The dynamic relationship between CSF neuroinflammatory and injury biomarkers and disease severity support a strong role for neuroinflammation in the progression of FTD.Study Supported by:NIH 2T32 AG023481, National Institutes of Health, 4-Repeat Tauopathy Neuroimaging Initiative (4RTNI, AG03879); the National Center for Advancing Translational Science (NCATS) and National Institute of Neurological Disorders and Stroke (NINDS), Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL, NS09208...
Source: Neurology - April 17, 2017 Category: Neurology Authors: -Martinez, J. R., Calvet, M. S., Karydas, A., Kleinberger, G., Kramer, J., Rosen, H., Rabinovici, G., Miller, B., Fagan, A., Haass, C., Boxer, A. Tags: Aging and Dementia Poster Discussion Session: Novel Approaches in Neurodegenerative Diseases: Genetics, Biomarkers, and Therapies Source Type: research

Improving Cognitive Screening Accuracy and Efficiency for Minimally Impaired Individuals (P6.308)
Conclusions:We demonstrate rapid detection of subtle cognitive impairment in individuals performing in the normal range on a widely used screening tool, offering an opportunity for sensitive, efficient cognitive screening.Disclosure: Dr. Davis has received personal compensation for activities with Digital Cognition Technologies, Inc. Dr. Davis has received royalty payments from Digital Cognition Technologies, Inc. Dr. Davis holds stock and/or stock options in Digital Cognition Technologies, Inc. Dr. Davis has received research support from Foxconn Corp. Dr. Souillard-Mandar has received personal compensation for activities...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Davis, R., Souillard-Mandar, W., Au, R., Penney, D. Tags: Behavioral and Cognitive Neurology: Diagnostic Testing Source Type: research

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