Evaluation of CSF1R‐related adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria

2021 ◽  
Author(s):  
X Ayrignac ◽  
C Carra Dallière ◽  
P Codjia ◽  
K Mouzat ◽  
G Castelnovo ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Adult Onset ◽  
Axonal Spheroids

scholarly journals Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation

2017 ◽  
Vol 25 (1) ◽  
pp. 142-147 ◽  
Author(s):  
T. Konno ◽  
K. Yoshida ◽  
I. Mizuta ◽  
T. Mizuno ◽  
T. Kawarai ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Adult Onset ◽  
Axonal Spheroids

scholarly journals Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: A case report

2019 ◽  
Vol 14 (4) ◽  
pp. 514-517 ◽  
Author(s):  
Seongsu Kang ◽  
Da Mi Kim ◽  
In Ho Lee ◽  
Chang June Song
Keyword(s):  
Case Report ◽  
Adult Onset ◽  
Axonal Spheroids

NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Neurology ◽  
2018 ◽  
Vol 91 (16) ◽  
pp. 755-757 ◽  
Author(s):  
Stefanie N. Hayer ◽  
Ilona Krey ◽  
Christian Barro ◽  
Franziska Rössler ◽  
Peter Körtvelyessy ◽  
...  
Keyword(s):  
Adult Onset ◽  
Axonal Spheroids

Sporadic Japanese case of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a de novo p.Phe849del mutation in CSF1R

2020 ◽  
Vol 8 (2) ◽  
pp. 96-98
Author(s):  
Kensuke Senzaki ◽  
Shiroh Miura ◽  
Masayuki Ochi ◽  
Takeaki Katoh ◽  
Yoko Okada ◽  
...  
Keyword(s):  
De Novo ◽  
Adult Onset ◽  
Axonal Spheroids ◽  
Japanese Case

scholarly journals Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

2016 ◽  
Vol 38 (1) ◽  
pp. 77-83 ◽  
Author(s):  
T. Konno ◽  
D.F. Broderick ◽  
N. Mezaki ◽  
A. Isami ◽  
D. Kaneda ◽  
...  
Keyword(s):  
Diagnostic Value ◽  
Adult Onset ◽  
Axonal Spheroids

scholarly journals Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Nicola Foulds ◽  
Reuben J. Pengelly ◽  
Simon R. Hammans ◽  
James A. R. Nicoll ◽  
David W. Ellison ◽  
...  
Keyword(s):  
Adult Onset ◽  
Axonal Spheroids

scholarly journals An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications

2013 ◽  
Vol 260 (10) ◽  
pp. 2665-2668 ◽  
Author(s):  
Shinsuke Fujioka ◽  
Daniel F. Broderick ◽  
Christina Sundal ◽  
Matthew C. Baker ◽  
Rosa Rademakers ◽  
...  
Keyword(s):  
Adult Onset ◽  
Axonal Spheroids

scholarly journals Diagnosis and Treatment of Adult-Onset Still’s Disease

2021 ◽  
Vol 96 (1) ◽  
pp. 30-35
Author(s):  
Sehee Kim ◽  
Hae-Rim Kim ◽  
Sang-Heon Lee ◽  
Hong Ki Min
Keyword(s):  
Clinical Trials ◽  
Diagnostic Criteria ◽  
Treatment Guidelines ◽  
Diagnosis And Treatment ◽  
Adult Onset Still’S Disease ◽  
Adult Onset ◽  
Malignant Diseases ◽  
Still’S Disease ◽  
Still's Disease ◽  
Adult Onset Still's Disease

Adult-onset Still’s disease (AOSD) is an obscure disease that is usually diagnosed after the exclusion of other febrile diseases, including other autoimmune, infectious, and malignant diseases. Although definitive diagnostic criteria and treatment guidelines for AOSD are thus far lacking, the typical manifestations of AOSD have been identified and effective medications for remission and maintenance have been proposed. The pathophysiology of the AOSD is unclear, but diagnostic criteria and treatment guidelines for AOSD can be established by determining its core etiology and conducting clinical trials of previously tested immunosuppressants and biologics.

scholarly journals Amyloid-β PET and CSF in an autopsy confirmed cohort

2020 ◽  
Author(s):  
Juhan Reimand ◽  
Baayla D.C. Boon ◽  
Lyduine E. Collij ◽  
Charlotte E. Teunissen ◽  
Annemieke J.M. Rozemuller ◽  
...  
Keyword(s):  
Granulomatosis With Polyangiitis ◽  
Amyloid Β ◽  
Emission Tomography ◽  
Adult Onset ◽  
Type B ◽  
Memory Clinic ◽  
Axonal Spheroids ◽  
Positron Emission ◽  
Neuropathological Diagnosis

AbstractObjectiveAccumulation of amyloid-β is among the earliest changes in Alzheimer’s disease (AD). Amyloid-β positron emission tomography (PET) and Aβ42 in cerebrospinal fluid (CSF) both assess amyloid-β pathology in-vivo, but 10–20% of cases show discordant (CSF+/PET- or CSF-/PET+) results. The neuropathological correspondence with amyloid-β CSF/PET discordance is unknown.MethodsWe included 21 patients from our tertiary memory clinic who had undergone both CSF Aβ42 analysis and amyloid-β PET, and had neuropathological data available. Amyloid-β PET and CSF results were compared with neuropathological ABC scores (comprising of Thal (A), Braak (B) and CERAD (C) stage, all ranging from 0 [low] to 3 [high]) and neuropathological diagnosis.ResultsNeuropathological diagnosis was AD in 11 (52%) patients. Amyloid-β PET was positive in all A3, C2 and C3 cases and in one of the two A2 cases. CSF Aβ42 was positive in 92% of A2/A3 and 90% of C2/C3 cases. PET and CSF were discordant in 3/21 (14%) cases: CSF+/PET- in a patient with granulomatosis with polyangiitis (A0B0C0), CSF+/PET- in a patient with FTLD-TDP type B (A2B1C1), and CSF-/PET+ in a patient with AD (A3B3C3). Two CSF+/PET+ cases had a non-AD neuropathological diagnosis, i.e. FTLD-TDP type E (A3B1C1) and adult-onset leukoencephalopathy with axonal spheroids (A1B1C0).InterpretationOur findings confirm amyloid-β CSF/PET discordance with a range of possible reasons. Furthermore, amyloid-β biomarker positivity on both PET and CSF did not invariably result in an AD diagnosis at autopsy, illustrating the importance of considering relevant co-morbidities when evaluating amyloid-β biomarker results.

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