Abstract
Alexander disease (AxD) is a leukodystrophy, described in infantile, juvenile and adult onset forms, due to mutations in the glial fibrillary acid protein (GFAP) gene. Adult-onset AxD (AOAD) has a range of clinical and radiographic phenotypes with the oldest reported onset in the seventh decade.We report a case of AOAD, with onset in the eighth decade, presenting with slow variant orthostatic tremor, which has not been previously described. Genetic analysis revealed a GFAP variant (c.1158C>A) that has not been previously reported. Our case serves to expand the diagnostic spectrum of AOAD both clinically and genetically.
Original language | English (US) |
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Pages (from-to) | 266-268 |
Number of pages | 3 |
Journal | Neurocase |
Volume | 24 |
Issue number | 5-6 |
DOIs | |
State | Published - Nov 2 2018 |
Keywords
- Genetics
- electrophysiology
- leukodystrophy
- magnetic resonance imaging
- orthostatic tremor
ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology