Arellano and coauthors aim to identify linear determinants of hAQP4 in the context of HLA-DRb1*03:01. See also the editorial by 1561.
Orange and colleagues conducted a retrospective case series of 26 patients with paraneoplastic neurologic disorders (PNDs) to evaluate the short-term use of a combination of prednisone and tacrolimus for acute neurologic worsening in PND in which intracellular antigens are targeted.
Smith and coauthors used an open-label trial to test the hypotheses that deep brain stimulation would increase cerebral glucose metabolism in cortical and hippocampal circuits and that increased metabolism would be correlated with better clinical outcomes.
Takada et al describe the clinical features of a Brazilian kindred with C9orf72 frontotemporal dementia–amyotrophic lateral sclerosis and compare them with other described families with C9orf72 and frontotemporal dementia–amyotrophic lateral sclerosis–causing mutations.
To delineate the molecular basis of amyotrophic lateral sclerosis (ALS) in the Kii peninsula of Japan, Ishiura and colleagues analyzed hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 gene (C9ORF72).
Daoud et al assess the presence of a large hexanucleotide repeat expansion in the first intron of the C9orf72 gene, identified as the genetic cause of chromosome 9p21–linked amyotrophic lateral sclerosis and frontotemporal dementia, in 4 unrelated families.
Savica and colleagues conducted a clinical series to characterize the antemortem characteristics of a family with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS) associated with the GGGGCC repeat expansion in the chromosome 9 open reading frame 72 (C9ORF72) gene.
In a prospective cohort study, Yaffe et al determine if prevalent and incident diabetes mellitus increase risk of cognitive decline and if, among elderly adults with diabetes mellitus, poor glucose control is related to worse cognitive performance.
With a prevalence of approximately 1% to 2% that of multiple sclerosis, neuromyelitis optica (NMO) and its spectrum disorders are rare in the United States. Mealy and coauthors developed a multicenter NMO clinical consortium of 3 tertiary centers to facilitate accurate clinical diagnosis and establish a foundation for future research.
Dorothée and colleagues compare serum antiamyloid-β antibodies in typical and atypical Alzheimer disease using an oligomer-based enzyme-linked immunosorbent assay.
Dassan and coauthors used a cross-sectional study to investigate whether vascular endothelial growth factor (VEGF) levels are associated with the presence of cerebral microbleeds in patients after acute ischemic stroke.
The voltage-gated sodium channel Nav1.7 plays roles in the human sense of smell and perception of pain. Zufall and coauthors review possible links between these sensory functions and sodium channelopathy.
Ash and coauthors report the clinical and molecular features of a case of neutral lipid storage disease with myopathy resulting from a novel mutation in PNPLA2.
Baek et al describe the case of a patient who had been receiving adalimumab for rheumatoid arthritis and died of varicella-zoster virus vasculopathy with multifocal cerebral hemorrhage.
Herskovitz and Schiller describe and characterize patients who experienced lone atrial fibrillation or atrial flutter as a consequence of epileptic seizures.
Kapur and Goldman report a rare case of the coexistence of 2 spinocerebellar ataxia mutations in a single patient.
Meeus and colleagues provide a comprehensive overview of the current studies on dementia with Lewy bodies heritability, genetic etiology, and genetic heterogeneity. They conclude with a critical discussion of the missing heritability in dementia with Lewy bodies.
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