@article {Baghbanian243, author = {Seyed Mohammad Baghbanian and Mohammad Reza Mahdavi Amiri and Hadi Majidi}, title = {Cerebrotendinous xanthomatosis revisited}, volume = {21}, number = {3}, pages = {243--245}, year = {2021}, doi = {10.1136/practneurol-2020-002895}, publisher = {BMJ Publishing Group Ltd}, abstract = {Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia.}, issn = {1474-7758}, URL = {https://pn.bmj.com/content/21/3/243}, eprint = {https://pn.bmj.com/content/21/3/243.full.pdf}, journal = {Practical Neurology} }