Novel GFAP Variant in Adult-onset Alexander Disease with Progressive Ataxia and Palatal Tremor

Jennifer M. Gass, Anvir Cheema, Jessica Jackson, Patrick R. Blackburn, Jay Van Gerpen, Paldeep S. Atwal

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)247-248
Number of pages2
JournalNeurologist
Volume22
Issue number6
DOIs
StatePublished - 2017

Keywords

  • Alexander disease
  • GFAP variant
  • progressive ataxia with palatal tremor
  • syncope

ASJC Scopus subject areas

  • Clinical Neurology

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