Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention
Antonio Edvan Camelo-Filho, Pedro Lucas Grangeiro Sá Barreto Lima, Francisco Luciano Honório Barreto Cavalcante, Oliver Reiks Miyajima, Carolina Figueiredo Santos, Rodrigo Fagundes da Rosa, André Luiz Santos Pessoa, Pedro Braga-Neto, Paulo Ribeiro Nóbrega · 2024
Read Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention by Antonio Edvan Camelo-Filho, Pedro Lucas Grangeiro Sá Barreto Lima, Francisco Luciano Honório Barreto Cavalcante, Oliver Reiks Miyajima, Carolina Figueiredo Santos, Rodrigo Fagundes da Rosa, André Luiz Santos Pessoa, Pedro Braga-Neto, Paulo Ribeiro Nóbrega (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11591590.txt.
Description
Nine reviewers assess nerve damage in a rare metabolic disorder, in a 2024 article. The disorder, cerebrotendinous xanthomatosis, stems from gene faults that let a fat-like substance, cholestanol, build up in tissues including nerves. Its nerve damage, polyneuropathy, is under-recognized and varies a lot between patients.
The team sifted nearly nine hundred articles and kept fifty-nine for close analysis. Across case series, half to over three quarters of patients showed nerve damage. Electrical tests gave mixed patterns: fiber loss in some, insulation damage in others, both in many. Signs included wasted lower legs, high foot arches, and weak feet, with numbness less often reported. A treatment drug improved nerve readings in some studies, with timing mattering. Nerve ultrasound is flagged as a promising extra tool. The authors call for standard test protocols.
Catalog record
| CREATOR | Antonio Edvan Camelo-Filho, Pedro Lucas Grangeiro Sá Barreto Lima, Francisco Luciano Honório Barreto Cavalcante, Oliver Reiks Miyajima, Carolina Figueiredo Santos, Rodrigo Fagundes da Rosa, André Luiz Santos Pessoa, Pedro Braga-Neto, Paulo Ribeiro Nóbrega |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 39 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |