Focal Seizures Induced by Paraneoplastic Syndrome Leading to a Diagnosis of Small Cell Lung Carcinoma.

Paraneoplastic neurological disorders are a rare complication of multiple neoplasms, such as lung, testis, and breast, and can be associated with positive antibody anti-Hu (anti-neuronal nuclear antibody type 1 or ANNA-1), anti-Ta, anti-Ma, and uncharacterized antibody, or be antibody-negative. Early treatment of the underlying tumor is the most likely modality that will lead to regression of the paraneoplastic neurological symptoms. Here, we present a case of a 73-year-old female with new-onset seizure activity from ANNA-1 encephalitis found to have undiagnosed small cell lung cancer to highlight the need for further workup for malignancy.

A Case Report and Literature Review of Nonketotic Hyperglycemic Hemichorea.

Nonketogenic hyperglycemic hemichorea, also recognized as diabetic striatopathy, is a rare manifestation of diabetes mellitus. The diagnosis of nonketotic hyperglycemic hemichorea is usually made through imaging along with a corresponding clinical picture. Early identification and treatment can lead to complete resolution of the symptoms and better patient outcomes.

Systemic Lymphoma Masquerading as Multiple Sclerosis Relapse.

Multiple sclerosis (MS) is a chronic immune-mediated central nervous system disease that can affect both the brain and spinal cord. Given that MS can occur at any location in the brain or spinal cord and can lead to a variety of symptoms, this can lead to difficulty in diagnosing MS versus other conditions mimicking MS. Here we present a case of a 69-year-old female with a history of relapsing-remitting MS diagnosed in 2002 and melanoma status post-excision who exhibited progressive neurological decline over eight weeks characterized by right internuclear ophthalmoplegia, bilateral ataxia, and left hemiparesis sparing the face.

Human-derived neural progenitors functionally replace astrocytes in adult mice.

Astrocytes are integral components of the homeostatic neural network as well as active participants in pathogenesis of and recovery from nearly all neurological conditions. Evolutionarily, compared with lower vertebrates and nonhuman primates, humans have an increased astrocyte-to-neuron ratio; however, a lack of effective models has hindered the study of the complex roles of human astrocytes in intact adult animals. Here, we demonstrated that after transplantation into the cervical spinal cords of adult mice with severe combined immunodeficiency (SCID), human pluripotent stem cell-derived (PSC-derived) neural progenitors migrate a long distance and differentiate to astrocytes that nearly replace their mouse counterparts over a 9-month period.

Modeling ALS with iPSCs reveals that mutant SOD1 misregulates neurofilament balance in motor neurons.

Amyotrophic lateral sclerosis (ALS) presents motoneuron (MN)-selective protein inclusions and axonal degeneration but the underlying mechanisms of such are unknown. Using induced pluripotent cells (iPSCs) from patients with mutation in the Cu/Zn superoxide dismutase (SOD1) gene, we show that spinal MNs, but rarely non-MNs, exhibited neurofilament (NF) aggregation followed by neurite degeneration when glia were not present. These changes were associated with decreased stability of NF-L mRNA and binding of its 3' UTR by mutant SOD1 and thus altered protein proportion of NF subunits.

A simple and efficient system for regulating gene expression in human pluripotent stem cells and derivatives.

Regulatable transgene expression in human pluripotent stem cells (hPSCs) and their progenies is often necessary to dissect gene function in a temporal and spatial manner. However, hPSC lines with inducible transgene expression, especially in differentiated progenies, have not been established due to silencing of randomly inserted genes during stem cell expansion and/or differentiation. Here, we report the use of transcription activator-like effector nucleases-mediated targeting to AAVS1 site to generate versatile conditional hPSC lines.