Cerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings

Movement Disorders : Official Journal of the Movement Disorder Society
Chen-San SuChiung-Chih Chang

Abstract

Parkinsonism in cerebrotendinous xanthomatosis (CTX) is rare. There are no published studies with imaging findings of dopamine transporter using (99m)Tc-[2-[[2-[[[3-(4-chlorophenyl)-8-methyl-8-azabicyclo [3,2,1] oct-2-yl] methyl] (2-mercaptoethyl) amino] ethyl] amino]-ethanethiolato(3-)-N2,N2,S2,S2]oxo-[1R-(exo-exo)] ((99m)Tc-TRODAT-1) SPECT in CTX patients. This report is on the clinical details of five genetically-proven CTX patients (two with and three without parkinsonism). Imaging findings using cranial magnetic resonance (MR) imaging and (99m)Tc-TRODAT-1 SPECT are also shown. Clinical correlation of neuroimaging findings and clinical presentations was made. A literature review of the clinical and neuroimaging features of eight CTX patients with parkinsonism reported in the English literature is also presented. The parkinsonian features of our two cases and the other eight reported cases occurred before the age of 50 years. The MR imaging study showed variable findings, in which, besides the common diffuse cerebral and cerebellar white matter lesions shown in CTX, several focal brain lesions were also noted. Of the focal lesions, substantia nigra abnormalities were seen only in the two cases with parkinsonism. The (99m)Tc-...Continue Reading

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Citations

May 24, 2013·Journal of Inherited Metabolic Disease·Mark WalterfangDennis Velakoulis
Nov 19, 2011·Brain : a Journal of Neurology·Chiung-Chih ChangJiun-Jie Wang
Jan 21, 2014·Journal of Inherited Metabolic Disease·Andrea MignarriAntonio Federico
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Apr 30, 2013·Parkinsonism & Related Disorders·Julien LagardeBertrand Degos
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