2021
DOI: 10.1111/cge.14079
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First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

Abstract: Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism caused by recessive variants in the cytochrome P450 CYP27A1 gene. CTX is said to manifest with childhood-onset chronic diarrhea and the classic triad of juvenile-onset cataracts, Achilles tendons xanthomas, and progressive ataxia. It is currently one of the few inherited neurometabolic disorders amenable to a specific treatment. The diagnosis may be significantly delayed resulting in permanent neurological impairment. A retrospective review … Show more

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Cited by 7 publications
(9 citation statements)
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References 302 publications
(176 reference statements)
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“…There is scienti c consensus that CTX is clinically not well recognized, frequently has delayed diagnosis [17], and has a prevalence likely underestimated in the general population [20,39], with less than 600 cases reported worldwide [12,28]. In order to facilitate early diagnosis of this disease, we sought to calculate the most updated conservative and accurate estimates for CTX prevalence.…”
Section: Discussionmentioning
confidence: 99%
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“…There is scienti c consensus that CTX is clinically not well recognized, frequently has delayed diagnosis [17], and has a prevalence likely underestimated in the general population [20,39], with less than 600 cases reported worldwide [12,28]. In order to facilitate early diagnosis of this disease, we sought to calculate the most updated conservative and accurate estimates for CTX prevalence.…”
Section: Discussionmentioning
confidence: 99%
“…Finally, we present a map of worldwide geographic estimate disease distribution using a novel approach based on CYP27A1 variant queries performed by clinicians across six continents. The map and CTX prevalence estimate results indicate that the number of individuals with this treatable disorder worldwide should greatly exceed the few hundred currently reported [12,28].…”
Section: Introductionmentioning
confidence: 93%
See 1 more Smart Citation
“…Neurological dysfunction may be present in childhood with intellectual disability and/or autism spectrum disorder and frequently develops in adulthood with epilepsy, pyramidal and extrapyramidal signs, cerebellar syndrome, peripheral neuropathy and intellectual disability/cognitive decline and progressive neurodegeneration [ 4 10 ]. Because of the pleiotropic phenotypes, accurate diagnosis may be delayed 10–20 years [ 11 , 12 ] and is often achieved only after irreversible neurological involvement has ensued. Treatment with bile acid replacement in the form of CDCA has been successfully used for decades [ 2 , 13 ] and, alternatively, cholic acid treatment has been reported in a modest number of cases.…”
Section: Introductionmentioning
confidence: 99%
“…Finally, we present a map of worldwide geographic estimate disease distribution using a novel approach based on CYP27A1 variant queries performed by clinicians across six continents. The map and CTX prevalence estimate results indicate that the number of individuals with this treatable disorder worldwide should greatly exceed the few hundred currently reported [ 12 , 28 ].…”
Section: Introductionmentioning
confidence: 99%