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Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2014
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  • Good Attention Score compared to outputs of the same age (74th percentile)
  • Good Attention Score compared to outputs of the same age and source (74th percentile)

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1 X user
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2 Wikipedia pages

Citations

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243 Dimensions

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242 Mendeley
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Title
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
Published in
Orphanet Journal of Rare Diseases, November 2014
DOI 10.1186/s13023-014-0179-4
Pubmed ID
Authors

Shuke Nie, Guiqin Chen, Xuebing Cao, Yunjian Zhang

Abstract

Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on chromosome 2q33-qter and contains nine exons. A CYP27A1 mutation leads to decreased synthesis of bile acid, excess production of cholestanol, and consequent accumulation of cholestanol in tissues. Currently there is no consensus on the prevalence of CTX, one estimate being <5/100,000 worldwide. The prevalence of CTX due to the CYP27A1 mutation R362C alone is approximately 1/50,000 in Caucasians. Patients with CTX have an average age of 35 years at the time of diagnosis and a diagnostic delay of 16 years. Clinical signs and symptoms include adult-onset progressive neurological dysfunction (i.e., ataxia, dystonia, dementia, epilepsy, psychiatric disorders,peripheral neuropathy, and myopathy) and premature non-neurologic manifestations (i.e., tendon xanthomas, childhood-onset cataracts, infantile-onset diarrhea, premature atherosclerosis, osteoporosis, and respiratory insufficiency). Juvenile cataracts, progressive neurologic dysfunction, and mild pulmonary insufficiency are unique symptoms that distinguish CTX from other lipid storage disorders including familial dysbetalipoproteinemia, homozygous familial hypercholesterolemia, and sitosterolemia, all of which might also present with xanthomas and cardiovascular diseases. Brain magnetic resonance imaging (MRI) shows bilateral lesions in the dentate nucleus of the cerebellum and mild white matter lesions. The classical symptoms and signs, namely elevated levels of cholestanol and bile alcohols in serum and urine, brain MRI, and the mutation in the CYP27A1 gene confirm the diagnosis of CTX. Early diagnosis and long-term treatment with chenodeoxycholic acid (750 mg/d) improve neurological symptoms and contribute to a better prognosis.

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X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 242 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 <1%
Unknown 240 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 33 14%
Student > Bachelor 30 12%
Student > Master 28 12%
Other 21 9%
Student > Ph. D. Student 20 8%
Other 46 19%
Unknown 64 26%
Readers by discipline Count As %
Medicine and Dentistry 63 26%
Biochemistry, Genetics and Molecular Biology 24 10%
Neuroscience 21 9%
Pharmacology, Toxicology and Pharmaceutical Science 16 7%
Chemistry 9 4%
Other 25 10%
Unknown 84 35%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 10 May 2019.
All research outputs
#6,409,166
of 22,771,140 outputs
Outputs from Orphanet Journal of Rare Diseases
#869
of 2,613 outputs
Outputs of similar age
#89,717
of 361,957 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#24
of 98 outputs
Altmetric has tracked 22,771,140 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 2,613 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one has gotten more attention than average, scoring higher than 64% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 361,957 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 74% of its contemporaries.
We're also able to compare this research output to 98 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 74% of its contemporaries.