Open AccessNovel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor
Author(s) -
Jennifer Gass,
Anvir Cheema,
Jessica L. Jackson,
Patrick R. Blackburn,
Jay Van Gerpen,
Paldeep S. Atwal
Publication year - 2017
Publication title -
the neurologist/the neurologist
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.43
H-Index - 60
eISSN - 2331-2637
pISSN - 1074-7931
DOI - 10.1097/nrl.0000000000000153
Subject(s) - medicine , ataxia , dysarthria , macrocephaly , leukodystrophy , pseudobulbar palsy , dysphagia , disease , pediatrics , age of onset , pathology , audiology , surgery , psychiatry
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.