Cerebrotendinous xanthomatosis in a 22-year-old Indian woman

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Cerebrotendinous xanthomatosis in a 22-year-old Indian woman

The video demonstrates ataxic speech, facial dystonia, square wave jerks, saccadic intrusions, palatal tremor, impaired bilateral finger-nose test and heel-shin test, and ataxic gait. Bilateral Achilles tendon xanthomas can be seen in the segments demonstrating the heel-shin test and while walking. The video was taken after written informed consent for video recording and publication. (Source: Katragadda P, Holla VV, Kamble N, Saini J, Yadav R, Pal PK. Clinical and imaging profile of patients with cerebrotendinous xanthomatosis - a video case series from India. Tremor Other Hyperkinet Mov [N Y] 2024;14:10. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)