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  • Title: Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor.
    Author: Gass JM, Cheema A, Jackson J, Blackburn PR, Van Gerpen J, Atwal PS.
    Journal: Neurologist; 2017 Nov; 22(6):247-248. PubMed ID: 29095329.
    Abstract:
    INTRODUCTION: Alexander disease is a rare neurodegenerative disease caused by variants in the glial fibrillary acidic protein gene (GFAP). This disorder can develop as an infantile, juvenile or adult-onset form and is characterized by several clinical features, including macrocephaly, seizures, ataxia, and bulbar/pseudobulbar signs. While the majority of these patients have the more progressive infantile form which causes severe leukodystrophy and early death; the less common adult form is more variable (ie, onset age, symptoms), with bulbar dysfunction as the primary feature. CASE REPORT: In our investigation, we describe a patient with progressive neuromuscular issues including dyspnea, dysphagia, dysarthria and progressive ataxia with palatal tremor. CONCLUSIONS: Through genetic testing, we determined that our patient has a novel variant in GFAP typical of Alexander disease.
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