Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment

被引：26

作者：

Nobrega, Paulo Ribeiro ^{[1
,2
]}

Bernardes, Anderson Moura ^{[1
]}

Ribeiro, Rodrigo Mariano ^{[1
]}

Vasconcelos, Sophia Costa ^{[1
]}

Batista Sa Araujo, David Augusto ^{[1
]}

de Vasconcelos Gama, Vitor Carneiro ^{[1
]}

Fussiger, Helena ^{[3
,4
]}

Santos, Carolina de Figueiredo ^{[5
,6
]}

Dias, Daniel Aguiar ^{[7
]}

Santos Pessoa, Andre Luiz ^{[6
,8
]}

Vieira de Rezende Pinto, Wladimir Bocca ^{[9
]}

Morales Saute, Jonas Alex ^{[4
,10
,11
,12
]}

Sgobbi de Souza, Paulo Victor ^{[9
]}

Braga-Neto, Pedro ^{[1
,8
]}

机构：

[1] Univ Fed Ceara, Dept Clin Med, Div Neurol, Fortaleza, Ceara, Brazil

[2] Univ Sao Paulo, Dept Neurol, Neurogenet Unit, Sch Med, Sao Paulo, Brazil

[3] Univ Federacao Estabelecimentos Ensino Super Novo, Sch Med, Novo Hamburgo, Brazil

[4] Univ Fed Rio Grande do Sul, Grad Program Med Med Sci, Porto Alegre, RS, Brazil

[5] Univ Fortaleza, Pediat Neurol, Fortaleza, Ceara, Brazil

[6] Hosp Infantil Albert Sabin, Fortaleza, Ceara, Brazil

[7] Univ Fed Ceara, Div Radiol, Fortaleza, Ceara, Brazil

[8] Univ Estadual Ceara, Ctr Hlth Sci, Fortaleza, Ceara, Brazil

[9] Univ Fed Sao Paulo, Dept Neurol & Neurosurg, Div Neuromuscular Dis, Neurometab Unit, Sao Paulo, Brazil

[10] Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil

[11] Hosp Clin Porto Alegre, Neurol Serv, Porto Alegre, RS, Brazil

[12] Univ Fed Rio Grande do Sul, Dept Internal Med, Porto Alegre, RS, Brazil

来源：

FRONTIERS IN NEUROLOGY | 2022年 / 13卷

关键词：

Cerebrotendinous Xanthomatosis; lipid storage disease; chenodeoxycholic acid; inherited metabolic disorders; inborn errors of metabolism; CHENODEOXYCHOLIC ACID; CHRONIC DIARRHEA; BILE-ACIDS; CHOLESTANOL; CTX; PARKINSONISM; SIMVASTATIN; METABOLISM; GENETICS; DISEASE;

D O I：

10.3389/fneur.2022.1049850

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页数：15

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