GFAP mutations, age at onset and clinical subtypes in Alexander disease

Posted by & filed under Part 28: NEUROGENETICS.

Prust et al, characterized 30 patients with Alexander disease and reviewed 185 previously reported cases in an effort to better determine the disease’s phenotypes and correlations with age at onset and genetic mutation. Based on their results, they propose to revise the Alexander’s disease subtypes from three to only two. Type I is characterized by early age at onset, seizures, encephalopathy, paroxysmal deterioration, failure to thrive, developmental delay and hallmark radiological features. In contrast, type II manifests across the lifespan and is characterized by autonomic dysfunction, bulbar symptoms, ocular movement abnormalities and palatal myoclonus and is largely without neurocognitive or developmental deficits.

Periklis Makrythanasis MD, PhD

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