Article
Recessively-Inherited Adult-Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene.
Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2020
Fu Mu-Hui, Chang Yung-Yee, Lin Ni-Hsuan, Yang Ai-Wen, Chang Chiung-Chih, Liu Jia-Shou, Peng Cheng-Huei, Wu Kay L H, Perng Ming-Der, Lan Min-Yu
Abstract excerpt
BACKGROUND: Alexander disease (AxD) is an autosomal-dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene. OBJECTIVES: The objective of this report is to characterize the clinical phenotype and identify the genetic mutation associated with adult-onset AxD. METHODS: A man presented with progressive unsteadiness since age 16. Magnetic resonance imaging findings...
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