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Background: Heart failure has been considered as a potential modifiable risk factor for cognitive impairment and dementia. Left ventricular ejection fraction (LVEF), an indicator of cardiac dysfunction, has also been associated with cognitive aging. However, the effect of LVEF on Alzheimer’s disease (AD) pathology is still less known. Objective: We aimed to investigate the associations of LVEF with cerebrospinal fluid (CSF) biomarkers for AD in cognitively normal elders. Methods: A total of 423 cognitively normal individuals without heart failure were included from the Chinese Alzheimer’s Biomarker and LifestylE (CABLE) study. Participants were divided into low LVEF group (50%≤LVEF

Mutations in the DNAJB6 gene have been identified as rare causes of myofibrillar myopathies. However, the underlying pathophysiologica mechanisms remain elusive. DNAJB6 has two known isoforms, including the nuclear isoform DNAJB6a and the cytoplasmic isoform DNAJB6b, which was thought to be the pathogenic isoform. Here, we report a novel recessive mutation c.695_699del (p. Val 232 Gly fs*7) in the DNAJB6 gene, associated with an apparently recessively inherited late onset distal myofibrillar myopathy in a Chinese family. Notably, the novel mutation localizes to exon 9 and uniquely encodes DNAJB6a. We further identified that this mutation decreases the mRNA and protein levels of DNAJB6a and results in an age-dependent recessive toxic effect on skeletal muscle in knock-in mice. Moreover, the mutant DNAJB6a showed a dose-dependent anti-aggregation effect on polyglutamine-containing proteins in vitro. Taking together, these findings reveal the pathogenic role of DNAJB6a insufficiency in myofibrillar myopathies and expand upon the molecular spectrum of DNAJB6 mutations. Electronic supplementary material The online version of this article (10.1186/s40478-020-01046-w) contains supplementary material, which is available to authorized users.

To report a case of leucine-rich glioma inactivated-1 protein antibody (LGI1-Ab) associated limbic encephalitis.A 76-year-old woman was admitted to the hospital because of cognitive impairment and faciobrachial dystonic seizures for six months. Hyponatremia was also noted in this patient. Antibodies to the LGI1 were positive.(18)F-FDG uptake was measured on the PET-CT scans of this patient.PET-CT showed bilateral putamen hypermetabolism with hypometabolism in other regions. Her symptoms were improved after intravenous immunoglobulin therapy.LGI1-Ab associated encephalitis can manifest as basal ganglia hypermetabolism and faciobrachial dystonic seizures.