| Title |
Cerebrotendinous xanthomatosis: Neuropathological findings
|
|---|---|
| Published in |
Journal of Neurology, May 2008
|
| DOI | 10.1007/s00415-008-0729-6 |
| Pubmed ID | |
| Authors |
B. Pilo de la Fuente, I. Ruiz, A. Lopez de Munain, A. Jimenez-Escrig |
| Abstract |
Cerebrotendinous xanthomatosis is an inherited autosomal recessive lipid storage disease caused by a 27-hydroxylase enzyme deficiency, characterised clinically by tendon xanthomas, premature cataracts, chronic diarrhoea and progressive neurologic dysfunction. The disease is very uncommon and there are very few pathological descriptions. We report a 52-year-old male who presented with a neuropsychiatric disorder and cognitive decline. Despite treatment the patient developed optic atrophy, parkinsonism and dementia and died. The autopsy revealed a nonspecific brain and cerebellar atrophy. Under microscopic examination, lipid crystal clefts, neuronal loss, demyelination, reactive astrocytosis and perivascular macrophages were found. These findings suggest the limited reversibility of the disease, and its poor prognosis, specially if treatment is not started early. |
Mendeley readers
The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Canada | 1 | 4% |
| Unknown | 27 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 5 | 18% |
| Student > Ph. D. Student | 4 | 14% |
| Student > Master | 4 | 14% |
| Student > Bachelor | 2 | 7% |
| Professor | 2 | 7% |
| Other | 5 | 18% |
| Unknown | 6 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 9 | 32% |
| Agricultural and Biological Sciences | 3 | 11% |
| Biochemistry, Genetics and Molecular Biology | 2 | 7% |
| Nursing and Health Professions | 2 | 7% |
| Neuroscience | 2 | 7% |
| Other | 3 | 11% |
| Unknown | 7 | 25% |
Attention Score in Context
This research output has an Altmetric Attention Score of 9. 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 28 September 2023.
All research outputs
#3,647,640
of 24,654,416 outputs
Outputs from Journal of Neurology
#930
of 4,839 outputs
Outputs of similar age
#10,225
of 81,831 outputs
Outputs of similar age from Journal of Neurology
#3
of 21 outputs
Altmetric has tracked 24,654,416 research outputs across all sources so far. Compared to these this one has done well and is in the 84th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 4,839 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.5. This one has done well, scoring higher than 80% of its peers.
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We're also able to compare this research output to 21 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 90% of its contemporaries.