Utilization of screening for cerebrotendinous xanthomatosis in adult patients with idiopathic ataxia
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Published on: January 11, 2019
Rebeka Sipma1, Marissa Dean1, Andrea DeBarber2,3
1Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, United States.
Introduction:
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder. Early diagnosis and bile acid replacement therapy can improve prognosis. While clinical presentation typically occurs at a young age, recent data suggests patients presenting as adults may predominately have neurological symptoms, including ataxia. CTX prevalence among adults with idiopathic ataxia is unknown.
Methods:
In this study, we examined the prevalence of CTX among adult patients with idiopathic ataxia referred to a specialized ataxia clinic. We used serum blood 7α,12α-dihydroxy-4-cholesten-3-one to screen for CTX in adults presenting to our tertiary care ataxia clinic with progressive cerebellar ataxia of unknown etiology. Clinical assessment included the Scale for Assessment and Rating of Ataxia (SARA) and the CTX suspicion index score. 51 participants enrolled, and 50 samples were able to be analyzed.
Results:
All 50 usable blood samples showed normal 7α,12α-dihydroxy-4-cholesten-3-one levels.
Discussion:
CTX is a very rare cause of progressive cerebellar ataxia in a tertiary care adult ataxia clinic.
