Alexander disease (AxD) is a rare neurodegenerative disease that is pathologically
characterized by the presence of Rosenthal fibers in astrocytes. Ninety-eight percentage
of AxD patients have detectable pathogenic variants in glial fibrillary acidic protein
(GFAP) gene. Clinically, AxD is categorized into subtypes based on the age of onset,
and the adult-onset AxD (AOAD) constitutes approximately 33% of affected individuals
[
[1]
]. As a radiological finding in AxD, “tadpole appearance,” which is characterized
by the presence of relatively preserved pons and severely atrophied medulla oblongata
on magnetic resonance imaging (MRI) [
[2]
], is well known. In addition, some patients with signal abnormalities in the anterior
portion of the medulla oblongata have been reported, and Yoshida et al. called the
findings the “eye spot” of the Taenaris sign [
[3]
]. The pathological background resulting in this “eye spot” sign is not well identified.
Herein, we report the case of an autopsied patient with AxD, presenting the “eye spot”
sign on MRI.Keywords
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References
- Alexander Disease. GeneReviews®[Internet].University of Washington, Seattle, Seattle (WA)1993–2017 (2002 Nov 15 [updated 2015 Jan 8])
- Identification of GFAP gene mutation in hereditary adult-onset Alexander disease.Ann. Neurol. 2002; 52: 779-785
- Characteristic abnormal signals in medulla oblongata-“eye spot” sign.Neurol. Clin. Pract. 2015; 5: 259-262
- A case of Alexander disease with dropped head syndrome.Clin. Neurol. 2018; 58 (Article in Japanese): 198-201
- JAPAN Alexander Disease Study Group. Quantitative evaluation of brain stem atrophy using magnetic resonance imaging in adult patients with Alexander disease.Eur. Neurol. 2017; 77: 296-302
- CSF and blood levels of GFAP in Alexander disease.in: ENEURO 0080-15. 2015
- Can MR imaging diagnose adult-onset Alexander disease?.Am. J. Neuroradiol. 2008; 29: 1190-1196
- Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.Brain. 2008; 131: 2321-2331
- Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.J. Neurol. Sci. 2013; 331: 161-164
- Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene.Clin. Neurol. 2009; 49: 358-363
- An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.J. Neurol. 2007; 254: 1390-1394
- Teaching video neuroimages: palatal tremor in adult-onset Alexander disease.Neurology. 2016; 86: e252
Article Info
Publication History
Published online: July 01, 2019
Accepted:
June 27,
2019
Received in revised form:
June 18,
2019
Received:
May 9,
2019
Identification
Copyright
© 2019 Elsevier B.V. All rights reserved.
