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Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder represents a key potentially treatable neurogenetic condition due to the wide spect...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9816572/ https://www.ncbi.nlm.nih.gov/pubmed/36619921 http://dx.doi.org/10.3389/fneur.2022.1049850 |
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author | Nóbrega, Paulo Ribeiro Bernardes, Anderson Moura Ribeiro, Rodrigo Mariano Vasconcelos, Sophia Costa Araújo, David Augusto Batista Sá Gama, Vitor Carneiro de Vasconcelos Fussiger, Helena Santos, Carolina de Figueiredo Dias, Daniel Aguiar Pessoa, André Luíz Santos Pinto, Wladimir Bocca Vieira de Rezende Saute, Jonas Alex Morales de Souza, Paulo Victor Sgobbi Braga-Neto, Pedro |
author_facet | Nóbrega, Paulo Ribeiro Bernardes, Anderson Moura Ribeiro, Rodrigo Mariano Vasconcelos, Sophia Costa Araújo, David Augusto Batista Sá Gama, Vitor Carneiro de Vasconcelos Fussiger, Helena Santos, Carolina de Figueiredo Dias, Daniel Aguiar Pessoa, André Luíz Santos Pinto, Wladimir Bocca Vieira de Rezende Saute, Jonas Alex Morales de Souza, Paulo Victor Sgobbi Braga-Neto, Pedro |
author_sort | Nóbrega, Paulo Ribeiro |
collection | PubMed |
description | Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder represents a key potentially treatable neurogenetic condition due to the wide spectrum of neurological presentations in which it most commonly occurs. Cerebellar ataxia, peripheral neuropathy, spastic paraparesis, epilepsy, parkinsonism, cognitive decline, intellectual disability, and neuropsychiatric disturbances represent some of the most common neurological signs observed in this condition. Despite representing key features to increase diagnostic index suspicion, multisystemic involvement does not represent an obligatory feature and can also be under evaluated during diagnostic work-up. Chenodeoxycholic acid represents a well-known successful therapy for this inherited metabolic disease, however its unavailability in several contexts, high costs and common use in patients at late stages of disease course limit more favorable neurological outcomes for most individuals. This review article aims to discuss and highlight the most recent and updated knowledge regarding clinical, pathophysiological, neuroimaging, genetic and therapeutic aspects related to Cerebrotendinous Xanthomatosis. |
format | Online Article Text |
id | pubmed-9816572 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-98165722023-01-07 Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment Nóbrega, Paulo Ribeiro Bernardes, Anderson Moura Ribeiro, Rodrigo Mariano Vasconcelos, Sophia Costa Araújo, David Augusto Batista Sá Gama, Vitor Carneiro de Vasconcelos Fussiger, Helena Santos, Carolina de Figueiredo Dias, Daniel Aguiar Pessoa, André Luíz Santos Pinto, Wladimir Bocca Vieira de Rezende Saute, Jonas Alex Morales de Souza, Paulo Victor Sgobbi Braga-Neto, Pedro Front Neurol Neurology Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder represents a key potentially treatable neurogenetic condition due to the wide spectrum of neurological presentations in which it most commonly occurs. Cerebellar ataxia, peripheral neuropathy, spastic paraparesis, epilepsy, parkinsonism, cognitive decline, intellectual disability, and neuropsychiatric disturbances represent some of the most common neurological signs observed in this condition. Despite representing key features to increase diagnostic index suspicion, multisystemic involvement does not represent an obligatory feature and can also be under evaluated during diagnostic work-up. Chenodeoxycholic acid represents a well-known successful therapy for this inherited metabolic disease, however its unavailability in several contexts, high costs and common use in patients at late stages of disease course limit more favorable neurological outcomes for most individuals. This review article aims to discuss and highlight the most recent and updated knowledge regarding clinical, pathophysiological, neuroimaging, genetic and therapeutic aspects related to Cerebrotendinous Xanthomatosis. Frontiers Media S.A. 2022-12-23 /pmc/articles/PMC9816572/ /pubmed/36619921 http://dx.doi.org/10.3389/fneur.2022.1049850 Text en Copyright © 2022 Nóbrega, Bernardes, Ribeiro, Vasconcelos, Araújo, Gama, Fussiger, Santos, Dias, Pessoa, Pinto, Saute, Souza and Braga-Neto. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Nóbrega, Paulo Ribeiro Bernardes, Anderson Moura Ribeiro, Rodrigo Mariano Vasconcelos, Sophia Costa Araújo, David Augusto Batista Sá Gama, Vitor Carneiro de Vasconcelos Fussiger, Helena Santos, Carolina de Figueiredo Dias, Daniel Aguiar Pessoa, André Luíz Santos Pinto, Wladimir Bocca Vieira de Rezende Saute, Jonas Alex Morales de Souza, Paulo Victor Sgobbi Braga-Neto, Pedro Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment |
title | Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment |
title_full | Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment |
title_fullStr | Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment |
title_full_unstemmed | Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment |
title_short | Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment |
title_sort | cerebrotendinous xanthomatosis: a practice review of pathophysiology, diagnosis, and treatment |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9816572/ https://www.ncbi.nlm.nih.gov/pubmed/36619921 http://dx.doi.org/10.3389/fneur.2022.1049850 |
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