Alexander disease (AD) is a rare neurodegenerative disorder caused by mutations in
the gene encoding the glial fibrillary acidic protein (GFAP).
1
AD was first described in an infant in 1949
2
,
3
and characterized by the presence of Rosenthal fibers (RFs)—eosinophilic inclusions
localized in astrocytic cytoplasms—found in perivascular, periventricular, and subpial
spaces of the cerebral hemispheres, the cerebellum, and the brainstem.
4
Brainstem involvement may cause otorhinolaryngologic manifestations, including dysphonia,
dysphagia, tremulous voice, nasal dysarthria, and palatal tremor (PT). There is no
cure for this condition and support is aimed at medical management of symptoms. We
present a case of a 51-year-old man with AD who initially presented to the laryngology
clinic with dysphonia, dysphagia, and PT and benefited from periodic Botox injection.
To our knowledge, this is the first report of Botox injection for dysphonia and dysphagia
in a patient with AD.To read this article in full you will need to make a payment
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References
- Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.J Neurol Sci. 2013; 331: 161-164
- Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant.Brain. 1949; 72 (373 pl): 373-381
- Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.Ann Neurol. 2002; 52: 779-785
- GFAP and its role in Alexander disease.Exp Cell Res. 2007; 313: 2077-2087
- Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset Alexander disease.Arch Ophthalmol. 1999; 117: 265-267
- Neuroimaging and clinical features in type II (late-onset) Alexander disease.Neurology. 2014; 82: 49-56
- Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.Brain. 2008; 131: 2321-2331
- Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.Arch Neurol. 2003; 60: 1307-1312
- Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.J Neurol Sci. 2004; 225: 125-127
- Alexander disease.J Neurosci. 2012; 32: 5017-5023
- Botulinum toxin for essential tremor of the voice with multiple anatomical sites of tremor: a crossover design study of unilateral versus bilateral injection.Laryngoscope. 2000; 110: 1366-1374
Article info
Publication history
Published online: July 15, 2018
Accepted:
February 1,
2018
Identification
Copyright
© 2018 The Voice Foundation. Published by Elsevier Inc. All rights reserved.
