The authors provide evidence for the involvement of Vps37A, a member of the endosomal sorting complex required for transport (ESCRT) system, in upper motor neuron disease. The ESCRT system has been shown to play a central role in intracellular trafficking, in the maturation of multivesicular bodies and the sorting of ubiquitinated membrane proteins into internal luminal vesicles. Further investigation of mechanisms by which dysfunction of this gene causes CHSP will contribute to the understanding of intracellular trafficking of vesicles by the ESCRT machinery and its relevance to CHSP.

No abstract

No abstract

No abstract

Reactive plasmacytosis is a rare finding that can obscure the underlying etiological disease, leading to misdiagnosis and inappropriate therapy. Here, we report a case of angioimmunoblastic T cell lymphoma that is represented by a striking amount of reactive plasmacytosis-expressing variable CD138 molecule (Fig. 1). A 79-year-old female was referred to our medical center due to unexplained fever, fatigue, and weakness. She was found to have lymphadenopathy and Epstein-Barr virus/cytomegalovirus (EBV/CMV)-negative serology. Her CBC showed anemia (Hb 5.7 g/dL), thrombocytopenia (13 × 10 3 /μL), and leukocytosis (41.6 × 10 3 /μL). The leukocyte differential was as follows: neutrophils 55.2 %, monocytes 16.2 %, lymphocytes 23.4 %, eosinophils 4.8 %, and basophils 0.4 % (done by Sysmex XN-1000 hematology analyzer). Plasma cells (PCs) with varied morphological appearance were observed in the peripheral blood (PB) smear and raised a suspicion for plasma c e l l l e u k e m i a. S e r u m e l e c t r o p h o r e s i s s h o w s hypergammaglobulinemia with inconclusive clonality by immunofixation. Flow cytometry analysis of the PB showed 20 % CD38++ PCs expressing variable CD138 expression. Further immunophenotyping of the PCs showed no cyto

No abstract