Article
Adult-onset Alexander disease among patients of Jewish Syrian descent.
Neurogenetics - 1 Oct 2023
Anis Saar, Fay-Karmon Tsvia, Lassman Simon, Shbat Fadi, Lesman-Segev Orit, Mor Nofar, Barel Ortal, Dominissini Dan, Chorin Odelia, Pras Elon, Greenbaum Lior, Hassin-Baer Sharon
Abstract excerpt
Alexander disease (AxD) is a rare autosomal dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acid protein (GFAP) gene. The age of symptoms onset ranges from infancy to adulthood, with variable clinical and radiological manifestations. Adult-onset AxD manifests as a chronic and progressive condition, characterized by bulbar, motor, cerebellar, and other clinical signs and symptoms....
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