Autonomic dysfunction in adult-onset alexander disease: A case report and review of the literature

Scott D. Spritzer, Srijana Zarkou, Stephen P. Ireland, Jonathon L. Carter, Brent P. Goodman

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Background: Alexander disease (AxD) is an astrogliopathy, resulting from a mutation in the glial fibrillary astrocytic protein gene. Different clinical subtypes have been described, including infantile, juvenile, and adult onset, based upon the age at which symptoms begin. Patients with the adult-onset form, develop a progressive, spastic paraparesis, palatal myoclonus, ataxia, and bulbar weakness. Autonomic nervous system (ANS) dysfunction has been reported as a potential manifestation of adult-onset AxD, but has not been well characterized. Objective: We report a case of adult-onset AxD with symptomatic orthostatic hypotension (OH) and heat intolerance that underwent formal autonomic testing. In addition, a comprehensive literature search was conducted to review the frequency and pattern of autonomic dysfunction in this patient population. Results: A 51-year-old patient was diagnosed with AxD at the age of 47, following an 8-year history of vertigo, intermittent diplopia, and sleep disturbance. The patient developed symptoms of OH, erectile dysfunction, and heat intolerance soon after his diagnosis. Autonomic testing demonstrated OH on tilt-table testing (47 mmHg decrease in BP with 18 BPM heart rate increment) with absent late phase II and IV responses during the Valsalva maneuver, severe cardiovagal impairment, and preserved postganglionic sympathetic sudomotor function. These findings were interpreted as being consistent with central autonomic failure. The most common autonomic symptoms reported in other AxD cases include constipation, urinary incontinence, and sphincter dysfunction. To our knowledge, this is the first report of formal autonomic testing in AxD. Conclusion: Signs and symptoms of ANS impairment can occur in patients with AxD, and can include orthostatic hypotension and bowel/bladder dysfunction. Autonomic testing in our patient suggests impairment in central autonomic pathways.

Original languageEnglish (US)
Pages (from-to)333-338
Number of pages6
JournalClinical Autonomic Research
Volume23
Issue number6
DOIs
StatePublished - Dec 2013

Fingerprint

Alexander Disease
Orthostatic Hypotension
Autonomic Nervous System
Hot Temperature
Spastic Paraparesis
Valsalva Maneuver
Autonomic Pathways
Myoclonus
Diplopia
Vertigo
Urinary Incontinence
Erectile Dysfunction
Constipation
Neuroglia
Signs and Symptoms
Sleep
Urinary Bladder
Heart Rate
Mutation

Keywords

  • Alexander disease
  • Autonomic nervous system
  • Dysautonomia
  • Orthostatic hypotension

ASJC Scopus subject areas

  • Clinical Neurology
  • Endocrine and Autonomic Systems

Cite this

Autonomic dysfunction in adult-onset alexander disease : A case report and review of the literature. / Spritzer, Scott D.; Zarkou, Srijana; Ireland, Stephen P.; Carter, Jonathon L.; Goodman, Brent P.

In: Clinical Autonomic Research, Vol. 23, No. 6, 12.2013, p. 333-338.

Research output: Contribution to journalArticle

Spritzer, Scott D. ; Zarkou, Srijana ; Ireland, Stephen P. ; Carter, Jonathon L. ; Goodman, Brent P. / Autonomic dysfunction in adult-onset alexander disease : A case report and review of the literature. In: Clinical Autonomic Research. 2013 ; Vol. 23, No. 6. pp. 333-338.
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