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A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor

Rossi, Malco; Cesarini, Martin; Gatto, Emilia; Cammarota, Angel; Merello, Marcelo

Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms.

Case Report: An adult patient with cerebrotendinous xanthomatosis exhibited ataxia and palatal tremor in the absence of tendon xanthomas and cataracts.

Discussion: The importance of this case resides on the fact that cerebrotendinous xanthomatosis should be considered as a possible etiology of the syndrome of progressive ataxia with palatal tremor, even in the absence of tendon xanthomas and cataracts. Early diagnosis is critical to the institution of specific treatment with chenodeoxycholic acid.

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Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D8X07Q2N

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
February 13, 2019
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