Synemin is expressed in reactive astrocytes and Rosenthal fibers in Alexander disease

Apmis ◽  
2013 ◽  
Vol 122 (1) ◽  
pp. 76-80 ◽  
Author(s):  
Tulen Pekny ◽  
Maryam Faiz ◽  
Ulrika Wilhelmsson ◽  
Maurice A. Curtis ◽  
Radoslav Matej ◽  
...  
Keyword(s):  
Reactive Astrocytes ◽  
Alexander Disease ◽  
Rosenthal Fibers

scholarly journals The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease

2017 ◽  
Vol 5 (1) ◽  
Author(s):  
Alexander A. Sosunov ◽  
Guy M. McKhann ◽  
James E. Goldman
Keyword(s):  
Alexander Disease ◽  
Rosenthal Fibers

ROSENTHAL FIBERS (RF) AND THE DIAGNOSIS OF ALEXANDER DISEASE

1997 ◽  
Vol 56 (5) ◽  
pp. 595
Author(s):  
A. B. Johnson ◽  
K. M. Weidenheim ◽  
L. A. Goodman ◽  
S. J. Horwitz
Keyword(s):  
Alexander Disease ◽  
Rosenthal Fibers

scholarly journals Abnormal Ca2+ Signals in Reactive Astrocytes as a Common Cause of Brain Diseases

2021 ◽  
Vol 23 (1) ◽  
pp. 149
Author(s):  
Schuichi Koizumi ◽  
Eiji Shigetomi ◽  
Fumikazu Sano ◽  
Kozo Saito ◽  
Sun Kwang Kim ◽  
...  
Keyword(s):  
Neuropathic Pain ◽  
Reactive Astrocytes ◽  
Alexander Disease ◽  
Sensory Cortex ◽  
Brain Diseases ◽  
Pain Model ◽  
Primary Sensory Cortex ◽  
Neuropathic Pain Model ◽  
Hippocampal Astrocytes ◽  
Underlying Pathology

In pathological brain conditions, glial cells become reactive and show a variety of responses. We examined Ca2+ signals in pathological brains and found that reactive astrocytes share abnormal Ca2+ signals, even in different types of diseases. In a neuropathic pain model, astrocytes in the primary sensory cortex became reactive and showed frequent Ca2+ signals, resulting in the production of synaptogenic molecules, which led to misconnections of tactile and pain networks in the sensory cortex, thus causing neuropathic pain. In an epileptogenic model, hippocampal astrocytes also became reactive and showed frequent Ca2+ signals. In an Alexander disease (AxD) model, hGFAP-R239H knock-in mice showed accumulation of Rosenthal fibers, a typical pathological marker of AxD, and excessively large Ca2+ signals. Because the abnormal astrocytic Ca2+ signals observed in the above three disease models are dependent on type II inositol 1,4,5-trisphosphate receptors (IP3RII), we reanalyzed these pathological events using IP3RII-deficient mice and found that all abnormal Ca2+ signals and pathologies were markedly reduced. These findings indicate that abnormal Ca2+ signaling is not only a consequence but may also be greatly involved in the cause of these diseases. Abnormal Ca2+ signals in reactive astrocytes may represent an underlying pathology common to multiple diseases.

Advanced glycation modification of Rosenthal fibers in patients with Alexander disease

1997 ◽  
Vol 231 (2) ◽  
pp. 79-82 ◽  
Author(s):  
R.J Castellani ◽  
G Perry ◽  
P.L.R Harris ◽  
V.M Monnier ◽  
M.L Cohen ◽  
...  
Keyword(s):  
Alexander Disease ◽  
Rosenthal Fibers ◽  
Advanced Glycation

scholarly journals Phenotypic Conversions of "Protoplasmic" to "Reactive" Astrocytes in Alexander Disease

2013 ◽  
Vol 33 (17) ◽  
pp. 7439-7450 ◽  
Author(s):  
A. A. Sosunov ◽  
E. Guilfoyle ◽  
X. Wu ◽  
G. M. McKhann ◽  
J. E. Goldman
Keyword(s):  
Reactive Astrocytes ◽  
Alexander Disease

scholarly journals Composition of Rosenthal Fibers, the Protein Aggregate Hallmark of Alexander Disease

2016 ◽  
Vol 15 (7) ◽  
pp. 2265-2282 ◽  
Author(s):  
Michael R. Heaven ◽  
Daniel Flint ◽  
Shan M. Randall ◽  
Alexander A. Sosunov ◽  
Landon Wilson ◽  
...  
Keyword(s):  
Alexander Disease ◽  
Rosenthal Fibers ◽  
Protein Aggregate

Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy

2020 ◽  
Author(s):  
Roberta Battini ◽  
Enrico Bertini ◽  
Roberta Milone ◽  
Chiara Aiello ◽  
Rosa Pasquariello ◽  
...  
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Features ◽  
Neurodevelopmental Disorder ◽  
Recurrent Mutation ◽  
Clinical Suspicion ◽  
Alexander Disease ◽  
Brain Anomalies ◽  
Progressive Encephalopathy ◽  
Core Features

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

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