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Journal of Clinical Neuroscience 2020-Mar

Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.

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Chiara Benzoni
Domenico Aquino
Daniela Di Bella
Elisa Sarto
Marco Moscatelli
Davide Pareyson
Franco Taroni
Ettore Salsano

Keywords

Abstract

Alexander disease (ALXDRD) is a rare astrocytic leukodystrophy caused by GFAP mutations. The adult-onset (AO) variant is usually characterized by gradual onset of spastic ataxia and bulbar symptoms with slowly progressive course. We report two AO-ALXDRD cases with rapid worsening after minor head trauma. In one of them, the only post-traumatic neuroimaging change was revealed by diffusion tensor imaging study. Our observations support the link between head trauma and ALXDRD progression, and suggest that this progression may be ascribed to microstructural changes. Clinicians should inform ALXDRD patients to minimize the risk of head trauma.

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