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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
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.
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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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