A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene

A 61-year-old Japanese man with the pure spinal form of cerebrotendinous xanthomatosis developed dysesthesia of the lower limbs and gait disturbance at 57 years of age. At 61 years old, he was unable to walk without support. A neurological examination showed spasticity and sensory disturbance in the...

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Detalles Bibliográficos
Autores principales: Takasone, Ken, Morizumi, Teruya, Nakamura, Katsuya, Mochizuki, Yusuke, Yoshinaga, Tsuneaki, Koyama, Shingo, Sekijima, Yoshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7662043/
https://www.ncbi.nlm.nih.gov/pubmed/32581172
http://dx.doi.org/10.2169/internalmedicine.5037-20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7662043/
https://www.ncbi.nlm.nih.gov/pubmed/32581172
http://dx.doi.org/10.2169/internalmedicine.5037-20

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