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. 2019 Oct 31;7(1):115-116.
doi: 10.1002/mdc3.12846. eCollection 2020 Jan.

Parkinsonism with Normal Dopaminergic Presynaptic Terminals in Cerebrotendinous Xanthomatosis

Jun Li  1   2 , Er-He Xu  2   3 , Wei Mao  2   3 , Hong-Wen Qiao  2   3   4 , Yong-Tao Zhou  2   3 , Qi Yang  5   6 , Shu-Ying Liu  2   3   6 , Piu Chan  2   3   6
Affiliations

Parkinsonism with Normal Dopaminergic Presynaptic Terminals in Cerebrotendinous Xanthomatosis

Jun Li et al. Mov Disord Clin Pract. .
No abstract available

Keywords: cerebrotendinous xanthomatosis; dopaminergic presynaptic terminals; iron deposition; parkinsonian syndrome.

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Conflict of interest statement

This study was funded by the Beijing Municipal Administration of Hospitals’ Mission Plan (Grant SML20150803), the Beijing Municipal Science & Technology Commission (Grant Z171100000117013), and the National Key R&D Program of China (Grants 2017YFC0840105 and 2018YFC1312000). The authors declare that there are no conflicts of interest relevant to this work.

Figures

Figure 1
Figure 1
Imaging results. (A,B) [18F]‐9‐fluoropropyl‐(+)‐dihydrotetrabenazine positron emission tomography revealed normal striatal uptake of [18F]‐9‐fluoropropyl‐(+)‐dihydrotetrabenazine (arrows). Susceptibility‐weighted imaging (C,E) and quantitative susceptibility mapping (D,F) revealed iron deposition within several brain regions (arrows). T1‐weighted brain magnetic resonance imaging revealed abnormal, symmetric signals in the cerebellar dentate nucleus (G) as well as white matter degeneration (H). T1‐weighted right‐ankle magnetic resonance imaging revealed fusiform thickening (I,J; arrows). (K) Photograph of the enlarged Achilles tendon. Hematoxylin‐and‐eosin stained biopsy specimen of the Achilles tendon shows multinucleated giant cells (L; arrow), xanthoma cells (M; thick arrow), and dispersed lipid crystal clefts (M; thin arrow). Magnifications: G, 200×; H, 100×.
See this image and copyright information in PMC

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