Alexander disease

is not a myth

It is a rare, genetic, progressive astrocytopathy that often presents as a leukodystrophy in children and as a neurodegenerative disease in adults.^1,2

An MRI and genetic testing can conﬁrm an Alexander disease diagnosis.¹

VERY RARE. VERY REAL.

MRI, magnetic resonance imaging.

Symptomology

Alexander disease is an astrocytopathy that presents as a leukodystrophy in young children and a progressive neurodegenerative disorder in adults.^2,5-8 Symptoms vary significantly depending on age of onset.^1,4,9,10 Many pediatricians and general neurologists may not be familiar with the characteristic features of Alexander disease due to the rare nature of the condition.^1,11 However, with raised awareness and education, the clinical constellation of symptoms and MRI features of Alexander disease can be recognized.

Understand symptomology

A man with a beard lies on his back about to enter an MRI machine. [66]

Four stock black and white photos appear in equal squares, from left to right: a man entering an MRI machine, an infant girl held and holding hands with her mother, a boy leaning on his father’s back, and a young girl lying on an adult’s chest. [245]

MRI features

When a leukodystrophy or Alexander disease is suspected, prompt referral to a neurologist for a brain MRI and genetic testing is critical for timely diagnosis.^10-13 Neuroimaging findings of frontally predominant white matter abnormalities, consistent with a leukodystrophy, are observed in those with earlier age of onset.^1,15 In those with a later age of onset, neurodegenerative features with brainstem lesions and/or atrophy of the brainstem, cerebellum, and/or cervical spinal cord are typically observed.^4,14,16

Review MRI features

Standard of care

Current approaches to disease management can mitigate symptoms but do not address the underlying cause of disease^1,8,17; however, ongoing research and a clinical trial are exploring potential disease-modifying therapies.^18,19

Learn about disease management