Giordano, I., Harmuth, F., Jacobi, H., Paap, B., Vielhaber, S., Machts, J., Schöls, L., Synofzik, M., Sturm, M., Tallaksen, C., Wedding, I. M., Boesch, S., Eigentler, A., van de Warrenburg, B., van Gaalen, J., Kamm, C., Dudesek, A., Kang, J.-S., Timmann, D., Silvestri, G., Masciullo, M., Klopstock, T., Neuhofer, C., Ganos, C., Filla, A., Bauer, P., Tezenas du Montcel, S., Klockgether, T. September 3, 2017

Objective:

To define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations.

Methods:

The primary measure of disease severity was the Scale for the Assessment and Rating of Ataxia (SARA). DNA samples were screened for mutations using a high-coverage ataxia-specific gene panel in combination with next-generation sequencing.… Read More...

Koton, S., Rexrode, K. M. September 3, 2017

Stroke poses a heavy burden on health systems, with serious implications for societies and economies. At the global level, stroke is the second leading cause of death and the third most common cause of disability.1 In the United States, about 795,000 strokes occur every year: on average, someone has a stroke every 40 seconds and someone dies as a result of a stroke every 4 minutes.… Read More...

Wardlaw, J. M., Chappell, F. M., Valdes Hernandez, M. d. C., Makin, S. D. J., Staals, J., Shuler, K., Thrippleton, M. J., Armitage, P. A., Munoz-Maniega, S., Heye, A. K., Sakka, E., Dennis, M. S. September 3, 2017

Objective:

To assess factors associated with white matter hyperintensity (WMH) change in a large cohort after observing obvious WMH shrinkage 1 year after minor stroke in several participants in a longitudinal study.

Methods:

We recruited participants with minor ischemic stroke and performed clinical assessments and brain MRI.… Read More...

Hehir, M. K., Hobson-Webb, L. D., Benatar, M., Barnett, C., Silvestri, N. J., Howard, J. F., Howard, D., Visser, A., Crum, B. A., Nowak, R., Beekman, R., Kumar, A., Ruzhansky, K., Chen, I.-H. A., Pulley, M. T., LaBoy, S. M., Fellman, M. A., Greene, S. M., Pasnoor, M., Burns, T. M. September 3, 2017

Objective:

To evaluate the efficacy of rituximab in treatment of anti-muscle-specific kinase (MuSK) myasthenia gravis (MG).

Methods:

This was a multicenter, blinded, prospective review, comparing anti-MuSK-positive patients with MG treated with rituximab to those not treated with rituximab. The primary clinical endpoint was the Myasthenia Gravis Status and Treatment Intensity (MGSTI), a novel outcome that combines the Myasthenia Gravis Foundation of America (MGFA) postintervention status (PIS) and the number and dosages of other immunosuppressant therapies used.… Read More...

Bril, V., Kaminski, H. J. September 3, 2017

A report of the Canadian Task Force on the Periodic Health Examination was the first to propose clinical practice recommendations based on evidence in the medical literature, and proposed a rating scheme.1 From that original publication, the categorization of evidence has evolved, with this journal requiring clinical therapeutic studies to provide the level of evidence provided by a report.… Read More...

Naik, N., Shah, A., Wamelink, M. M. C., van der Knaap, M. S., Hingwala, D. September 3, 2017

Ribose 5 phosphate isomerase deficiency (RPID) is a rare inborn error of metabolism in the pentose phosphate pathway (PPP)1 with a single case reported to date.2,3 The previously reported patient had leukoencephalopathy with a mild peripheral neuropathy. The diagnosis was established by demonstration of highly elevated levels of polyols by magnetic resonance spectroscopy (MRS) and body fluid analysis.… Read More...

Ahmad, H., Roberts, R. E., Patel, M., Lobo, R., Seemungal, B., Arshad, Q., Bronstein, A. September 3, 2017

Objective:

To identify in an observational study the neurophysiologic mechanisms that mediate adaptation to oscillopsia in patients with bilateral vestibular failure (BVF).

Methods:

We directly probe the hypothesis that adaptive changes that mediate oscillopsia suppression implicate the early visual-cortex (V1/V2). Accordingly, we investigated V1/V2 excitability using transcranial magnetic stimulation (TMS) in 12 avestibular patients and 12 healthy controls.… Read More...

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