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.
*Center for Individualized Medicine
Departments of †Clinical Genomics
‡Neurology, Mayo Clinic, Jacksonville, FL
The authors declare no conflict of interest.
Reprints: Jennifer M. Gass, PhD, Center for Individualized Medicine, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224. E-mail: email@example.com.
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