scholarly journals A Case of Adult-Onset Alexander Disease Featuring Severe Atrophy of the Medulla Oblongata and Upper Cervical Cord on Magnetic Resonance Imaging

2012 ◽  
Vol 4 (3) ◽  
pp. 202-206 ◽  
Author(s):  
Tadahiro Yonezu ◽  
Shoichi Ito ◽  
Kazuaki Kanai ◽  
Saeko Masuda ◽  
Kazumoto Shibuya ◽  
...  
2021 ◽  
pp. 355-360
Author(s):  
Tongjia Cai ◽  
Sisi Jing ◽  
Ying Li ◽  
Jianjun Wu

Adult-onset Alexander disease (AOAD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (<i>GFAP</i>). Individuals with this disorder often present with a typical neuroradiologic pattern, including frontal white matter abnormality with contrast enhancement, atrophy and signal intensity changes of the medulla oblongata and upper cervical cord on MRI. Focal lesions are rarely seen in AOAD, which causes concern for primary malignancies. This study aimed to present the case of a 37-year-old male patient initially diagnosed with an astrocytoma in the lateral ventricle that was later identified as GFAP mutation-confirmed AOAD. <i>GFAP</i> sequencing revealed a heterogeneous missense mutation point c.236G&#x3e;A. Hence, AOAD should be considered in patients with tumor-like lesion brain lesion in association with atrophy of medulla oblongata and upper cervical spinal cord, and frontal white matter abnormality with contrast enhancement.


Spine ◽  
2006 ◽  
Vol 31 (17) ◽  
pp. E579-E583 ◽  
Author(s):  
Yasuyuki Kuwazawa ◽  
Malcolm H. Pope ◽  
Waseem Bashir ◽  
Keisuke Takahashi ◽  
Francis W. Smith

2013 ◽  
Vol 13 (2) ◽  
pp. 206-207
Author(s):  
David A. Cavanaugh ◽  
Phillip A. Utter ◽  
Ajay Jawahar ◽  
James A. Harper ◽  
Pierce D. Nunley

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