AUTHOR=Kang You-Ri , Nam Tai-Seung , Kim Jae-Myung , Kang Kyung Wook , Lee Seung-Han , Choi Seong-Min , Kim Myeong-Kyu 

TITLE=Older adult-onset Alexander disease with atypical clinicoradiological features: a case report

JOURNAL=Frontiers in Neurology

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1139047

DOI=10.3389/fneur.2023.1139047

ISSN=1664-2295

ABSTRACT=Alexander disease (AxD) is a rare autosomal dominant astrogliopathy caused by mutations in the gene encoding for the glial fibrillary acidic protein. AxD is divided into 2 clinical subtypes: type I and type II AxD. Type II AxD usually manifests bulbospinal symptoms and occurs in the second decade of life or later, and its radiologic features include a tadpole-like appearance of the brainstem, ventricular garlands, and pial signal changes along the brainstem. Recently, eye-spot sign in the anterior medulla oblongata (MO) has been reported in patients with elderly-onset AxD. An 82-year-old woman presented with mild gait disturbance and urinary incontinence without bulbar symptoms. The patient died 3 years after symptom onset because of rapid neurological deterioration after a minor head injury. MRI showed the signal abnormalities resembling angel-wings in the middle portion of the MO along with hydromyelia of the cervicomedullary junction. Herein, we report the case of this patient with older adult-onset AxD with an atypical clinical course and distinct MRI findings.