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Background: Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure and various motor symptoms. While MSA‐C (cerebellar type) predominates in East Asia, MSA‐P (parkinsonian type) predominates in Europe and North America. This nationwide patient registry aimed to (1) conduct a prospective natural history study of MSA in Japan, (2) facilitate patient recruitment for clinical trials, and (3) deposit bioresources and clinical information in a biobank. Methods: Thirteen institutions participated in this study. Clinical information was obtained by neurologists from the patients visiting the hospital every 12 months to assess the UMSARS Part 2 scores and by telephone interviews by nurses every 6 months to assess UMSARS Part 1 scores and to determine whether clinical events had occurred. Results: Demographic data from 329 MSA patients (216 MSA‐C and 113 MSA‐P) were analyzed. The mean age at symptom onset was 58.2 years (standard deviation, 8.9); the mean duration of symptoms at enrollment was 3.5 years (standard deviation, 2.2). The mean 12‐month changes in the UMSARS Part 1 and Part 2 scores were 7.9 (standard deviation, 5.6) and 6.4 (standard deviation, 5.9), respectively. The patient registry proved useful in recruiting participants for clinical trials, including those with gene variants. Clinical information and biospecimens were deposited in a biobank. Discussion: The study highlighted the importance of telephone interviews in minimizing drop‐out rates in natural history studies and demonstrated similar MSA progression rates across populations. The deposited bioresources are available to researchers upon request, aiming to contribute to future MSA researches. [ABSTRACT FROM AUTHOR]

A 71‐year‐old woman with a 6‐month history of relapsing bilateral anterior scleritis presented with severe right visual impairment due to posterior scleritis. Despite radiological signs of encephalitis, the patient and her family members noticed no cognitive decline. The patient subsequently developed slight auricular pain without any visual changes such as redness or swelling, which, however, showed increased uptake of 18F‐fluorodeoxyglucose on positron emission tomography. Auricular cartilage biopsy revealed perichondrial inflammation suggesting relapsing polychondritis. Steroid therapy improved her symptoms and radiological findings. This case illustrates that asymptomatic brain inflammatory lesions can precede clinical signs of chondritis in relapsing polychondritis, and that auricular cartilage biopsy should be considered even with mild auricular pain without apparent clinical findings of inflammation. [ABSTRACT FROM AUTHOR]

Embryonal tumor with abundant neuropil and true rosettes ( ETANTR) is a very aggressive embryonal central nervous system ( CNS) tumor, histologically featuring ependymoblastic rosettes and neuronal differentiation in a neuropil-like background. 19q13.42 amplification was identified in ETANTR and epndymoblastoma, suggesting that these tumors constitute a single entity, called embryonal tumor with multilayered rosettes ( ETMR). Here, we report a case involving a 2-year-old boy with a pontine embryonal tumor composed of clusters of poorly differentiated neuroepithelial cells, and smaller neuroblastic/neurocytic cells in a fibrillary and paucicellular neuropil-like matrix, where clear ependymoblastic rosettes were not detected but only one structure suggestive of an ependymoblastic multilayered rosette was found. Fluorescence in situ hybridazation analysis revealed 19q13.42 amplification, supporting the diagnosis of ETANTR. This report indicates that rare ependymoblasic rosettes found in embryonal tumors, which are otherwise CNS primitive neuroectodermal tumors or medulloblastomas, are significant for considering the examination of 19q13.42 amplification to confirm the diagnosis of ETMR. [ABSTRACT FROM AUTHOR]