Progressive Spastic Paraparesis as the Dominant Manifestation of Adolescent-Onset Alexander Disease: Case Report and Literature Review.

ABSTRACT: Objectives: Alexander disease (AxD) is a rare neurodegenerative disorder that represents a group of leukodystrophies with severe disability and premature death, mostly with an infancy/childhood onset. In rare cases of late-onset phenotypes, symptoms are often milder and difficult to diagnose. We present a diagnostic journey of a teenage male patient with a progressive gait disorder starting at the age of 13 years, with a final diagnosis of Alexander disease. Early in the course of the disease, the boy exhibited distinctive cognitive involvement and neuropsychological deterioration characterized by selective impairment of visual and long-term auditory memory, along with a decline in IQ but preserved reasoning abilities. Methods: The patient underwent an extensive neurological

SUBMITTER: Smolka KA 

PROVIDER: S-EPMC12653588 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature