Lipid interaction with α-synuclein (αSyn) has been long implicated in the pathogenesis of Parkinson's disease (PD). However, it has not been fully determined which lipids are involved in the initiation of αSyn aggregation in PD. Here exploiting genetic understanding associating the loss-of-function mutation in Synaptojanin 1 (SYNJ1), a phosphoinositide phosphatase, with familial PD and analysis of postmortem PD brains, we identified a novel lipid molecule involved in the toxic conversion of αSyn and its relation to PD.
View Article and Find Full Text PDFErdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis characterized by the infiltration of foamy histiocytes into multiple organs. We herein report a case of ECD with central nervous system (CNS) involvement in a 63-year-old man who also presented a positive result for Toxoplasma gondii nested polymerase chain reaction testing of cerebrospinal fluid. Since anti-Toxoplasma treatment proved completely ineffective, we presumed latent infection of the CNS with T.
View Article and Find Full Text PDFObjective: The aim of this case report was to describe a potential anti-interleukin (IL)-6 treatment for cryptogenic new-onset refractory status epilepticus (C-NORSE).
Background: Although an underlying immune-mediated pathogenesis is considered present in some C-NORSE cases, many cases do not respond to classical immunotherapies.
Case Report: We describe the case of a 46-year-old woman with C-NORSE who achieved cessation of long-lasting status epilepticus following administration of tocilizumab, an IL-6 receptor-blocking antibody, although the final outcome was poor.
A 48-year-old man was admitted to our department with generalized convulsive seizures followed by recurrent partial clonic convulsions in the left face and arm. Convulsions stopped temporarily after administration of diazepam, fosphenytoin, and levetiracetam. However, frequent partial seizures occurred repeatedly and general anesthesia was required to control seizures.
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