Gottesman et al evaluate the association between midlife (48-67 years of age) hypertension and the 20-year change in cognitive performance among the Atherosclerosis Risk in Communities cohort. See also the editorial by Gorelick.
Mak et al describe a man with extensive tuberous and morbilliform cutaneous xanthomas and exceptionally severe dysbetalipoproteinemia. They aimed to discover the molecular basis of the disorder and to determine the effects of complete absence of apolipoprotein E on neurocognitive and visual function and on lipoprotein metabolism. Lane-Donovan and Herz provide commentary in a related editorial.
Fogel and colleagues investigated the contribution of genetic disease in a population of patients with predominantly adult- and sporadic-onset cerebellar ataxia. Gomez and Das provided a related Article .
King et al determine if peripheral blood telomere length is associated with brain volume. Peripheral blood leukocyte telomere length and brain volumes were measured among 1950 individuals (median age, 50 years) in the Dallas Heart Study. Global and 48 regional brain volumes were assessed from the automated analysis of magnetic resonance imaging.
Pascual et al evaluate the use of triheptanoin in the treatment of glucose transporter type I deficiency in a case series including 14 patients.
Holland et al assessed structural growth trajectories and rates of change in the whole brain and regions of interest in infants during the first 3 months after birth.
Marshall and coauthors use hypercapnic perfusion magnetic resonance imaging to assess cerebrovascular reactivity impairment in patients with multiple sclerosis.
Palmqvist and colleagues studied whether cerebrospinal fluid (CSF) biomarkers, analyzed consecutively in routine clinical practice during 2 years, can predict cortical β-amyloid (Aβ) deposition, and aimed to establish a threshold for Aβ42 abnormality.
DeLong et al suggest that age alone should not be a primary exclusion factor for determining candidacy for deep brain stimulation. Instead, a clear focus on patients with medication-refractory and difficult to control on-off fluctuations with preserved cognition, regardless of age, may allow for an expansion of the traditional therapeutic window.
Sanders et al report 2 cases of severe stiff person syndrome treated with autologous hematopoietic cell transplantation, a novel therapy for this disease.
Naasan and colleagues describe a novel neurocardiac prodrome of voltage-gated potassium channel complex antibody/leucine-glioma rich inactivated 1 encephalitis.
ANO10 mutations have been reported to cause a novel form of autosomal recessive cerebellar ataxia (ARCA). Renaud and coauthors report 9 ataxic patients carrying 8 novel ANO10 mutations to improve the delineation of this form of ARCA and provide genotype-phenotype correlation.
Warner and coauthors chronicle the evolution of preclinical research designed to provide therapeutic interventions.
Turkalp et al review the role of isocitrate dehydrogenase (IDH) in normal physiology and describe aberrations in the IDH pathway that are associated with gliomagenesis, and they review recent work examining the effect of IDH-targeted therapy in cancers harboring IDH mutation and determine how this work has expanded our understanding of the role of IDH in the development and progression of glioma.