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Neurocase. 2019 Feb 12:1-3. doi: 10.1080/13554794.2019.1580749. [Epub ahead of print]

An unusual presentation of late-onset Alexander's disease with slow orthostatic tremor and a novel GFAP variant.

Author information

1
a Department of Neurology , Mayo Clinic , Rochester , MN , USA.
2
b Department of Medical Genetics , Mayo Clinic , Rochester , MN , USA.
3
c Division of Neuroradiology , Mayo Clinic , Rochester , MN , USA.

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.

KEYWORDS:

Genetics; electrophysiology; leukodystrophy; magnetic resonance imaging; orthostatic tremor

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